TOP3BTopoisomerase (DNA) III beta
Autism Reports / Total Reports
3 / 7Rare Variants / Common Variants
6 / 1Aliases
-Associated Syndromes
-Chromosome Band
22q11.22Associated Disorders
-Relevance to Autism
The gene product of TOP3B, TOP3b, was recently shown to interact with FMRP, the protein deficient in Fragile X syndrome, a syndromic form of autism, and that this interaction was abolished by a disease-associated mutation of FMRP (Xu et al., 2013). Furthermore, this report demonstrated that Top3b binds mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism, and that synapse formation was defective in both TOP3B mutant files and mice. A subsequent report showed that enrichment of a rare chromosome 22q11.22 deletion in a Northern Finnish isolate allowed for the detection of association between the TOP3B gene and both schizophrenia and intellectual disability (Stoll et al., 2013).
Molecular Function
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Recently, this enzyme was shown to also have RNA topoisomerase activity (Xu et al., 2013; Stoll et al., 2013).
External Links
SFARI Genomic Platforms
Reports related to TOP3B (7 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | De novo gene disruptions in children on the autistic spectrum | Iossifov I , et al. (2012) | Yes | - |
2 | Primary | Top3? is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation | Xu D , et al. (2013) | No | - |
3 | Recent Recommendation | Deletion of TOP3?, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders | Stoll G , et al. (2013) | No | - |
4 | Support | Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism | Kaufman CS , et al. (2016) | Yes | - |
5 | Recent Recommendation | Topoisomerase 3? is the major topoisomerase for mRNAs and linked to neurodevelopment and mental dysfunction | Ahmad M , et al. (2017) | No | - |
6 | Recent Recommendation | An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders | Chen S , et al. (2018) | No | - |
7 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (6)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.781C>G | p.Arg261Gly | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1621G>A | p.Gly541Ser | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1682G>A | p.Arg561His | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
- | - | copy_number_loss | Unknown | - | Multi-generational | 27880953 | Kaufman CS , et al. (2016) | |
c.2269T>C | p.Cys757Arg | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.1996T>C | p.Cys666Arg | missense_variant | De novo | - | Simplex | 22542183 | Iossifov I , et al. (2012) |
Common Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | - | - | - | 23912948 | Stoll G , et al. (2013) |
SFARI Gene score
Strong Candidate
The gene product of TOP3B, TOP3b, has been shown to interact with FMRP, the protein deficient in Fragile X syndrome, a syndromic form of autism, and that this interaction was abolished by a disease-associated mutation of FMRP (Xu et al., 2013). Furthermore, this report demonstrated that Top3b binds mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism, and that synapse formation was defective in both TOP3B mutant files and mice. A subsequent report showed that enrichment of a rare chromosome 22q11.22 deletion in a Northern Finnish isolate allowed for the detection of association between the TOP3B gene and both schizophrenia and intellectual disability (Stoll et al., 2013). A de novo missense variant in TOP3B was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012); functional characterization of this variant in Ahmad et al., 2016 demonstrated defects in RNA topoisomerase activity, reduced mRNA binding activity, and reduced interaction with FMRP, as well as reduced ability to rescue the increased number of synaptic branches and boutons observed at the neuromuscular junctions of Drosophila in the top3b deletion background, indicating a partial loss-of-function effect.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
The gene product of TOP3B, TOP3b, has been shown to interact with FMRP, the protein deficient in Fragile X syndrome, a syndromic form of autism, and that this interaction was abolished by a disease-associated mutation of FMRP (Xu et al., 2013). Furthermore, this report demonstrated that Top3b binds mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism, and that synapse formation was defective in both TOP3B mutant files and mice. A subsequent report showed that enrichment of a rare chromosome 22q11.22 deletion in a Northern Finnish isolate allowed for the detection of association between the TOP3B gene and both schizophrenia and intellectual disability (Stoll et al., 2013). A de novo missense variant in TOP3B was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012); functional characterization of this variant in Ahmad et al., 2016 demonstrated defects in RNA topoisomerase activity, reduced mRNA binding activity, and reduced interaction with FMRP, as well as reduced ability to rescue the increased number of synaptic branches and boutons observed at the neuromuscular junctions of Drosophila in the top3b deletion background, indicating a partial loss-of-function effect.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
The gene product of TOP3B, TOP3b, has been shown to interact with FMRP, the protein deficient in Fragile X syndrome, a syndromic form of autism, and that this interaction was abolished by a disease-associated mutation of FMRP (Xu et al., 2013). Furthermore, this report demonstrated that Top3b binds mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism, and that synapse formation was defective in both TOP3B mutant files and mice. A subsequent report showed that enrichment of a rare chromosome 22q11.22 deletion in a Northern Finnish isolate allowed for the detection of association between the TOP3B gene and both schizophrenia and intellectual disability (Stoll et al., 2013). A de novo missense variant in TOP3B was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012); functional characterization of this variant in Ahmad et al., 2016 demonstrated defects in RNA topoisomerase activity, reduced mRNA binding activity, and reduced interaction with FMRP, as well as reduced ability to rescue the increased number of synaptic branches and boutons observed at the neuromuscular junctions of Drosophila in the top3b deletion background, indicating a partial loss-of-function effect.
Reports Added
[New Scoring Scheme]7/1/2018
Decreased from 4 to 4
Description
The gene product of TOP3B, TOP3b, has been shown to interact with FMRP, the protein deficient in Fragile X syndrome, a syndromic form of autism, and that this interaction was abolished by a disease-associated mutation of FMRP (Xu et al., 2013). Furthermore, this report demonstrated that Top3b binds mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism, and that synapse formation was defective in both TOP3B mutant files and mice. A subsequent report showed that enrichment of a rare chromosome 22q11.22 deletion in a Northern Finnish isolate allowed for the detection of association between the TOP3B gene and both schizophrenia and intellectual disability (Stoll et al., 2013). A de novo missense variant in TOP3B was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012); functional characterization of this variant in Ahmad et al., 2016 demonstrated defects in RNA topoisomerase activity, reduced mRNA binding activity, and reduced interaction with FMRP, as well as reduced ability to rescue the increased number of synaptic branches and boutons observed at the neuromuscular junctions of Drosophila in the top3b deletion background, indicating a partial loss-of-function effect.
1/1/2017
Increased from to 4
Description
The gene product of TOP3B, TOP3b, has been shown to interact with FMRP, the protein deficient in Fragile X syndrome, a syndromic form of autism, and that this interaction was abolished by a disease-associated mutation of FMRP (Xu et al., 2013). Furthermore, this report demonstrated that Top3b binds mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism, and that synapse formation was defective in both TOP3B mutant files and mice. A subsequent report showed that enrichment of a rare chromosome 22q11.22 deletion in a Northern Finnish isolate allowed for the detection of association between the TOP3B gene and both schizophrenia and intellectual disability (Stoll et al., 2013). A de novo missense variant in TOP3B was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012); functional characterization of this variant in Ahmad et al., 2016 demonstrated defects in RNA topoisomerase activity, reduced mRNA binding activity, and reduced interaction with FMRP, as well as reduced ability to rescue the increased number of synaptic branches and boutons observed at the neuromuscular junctions of Drosophila in the top3b deletion background, indicating a partial loss-of-function effect.
Krishnan Probability Score
Score 0.44807977964602
Ranking 11773/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.11452801261758
Ranking 7717/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.79165623784622
Ranking 2071/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 4
Ranking 325/461 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.46856594084529
Ranking 759/20870 scored genes
[Show Scoring Methodology]
External PIN Data
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
A4GALT | ADA | Human | Protein Binding | 53947 | Q9NPC4 |
ABCA7 | ADCY5 | Human | Protein Binding | 10347 | B3KUJ3 |
ABHD6 | ALDH5A1 | Human | Protein Binding | 57406 | Q9BV23 |
ACBD7 | AP1S2 | Human | Protein Binding | 414149 | Q8N6N7 |
ACTR5 | ARHGAP24 | Human | Protein Binding | 79913 | Q9H9F9 |
ADAMTS15 | ASMT | Human | Protein Binding | 170689 | Q8TE58 |
ADAMTS5 | ASTN2 | Human | Protein Binding | 11096 | Q9UNA0 |
ADAMTSL5 | ATP2B2 | Human | Protein Binding | 339366 | Q0VD77 |
AKNA | CACNA1D | Human | Protein Binding | 80709 | Q64FY1 |
ALDH1L2 | CACNA1G | Human | Protein Binding | 160428 | B4DTU7 |
ALG1 | CACNA1H | Human | Protein Binding | 56052 | Q9BT22 |
ALPPL2 | CCDC64 | Human | Protein Binding | 251 | P10696 |
ANTXR1 | CHRM3 | Human | Protein Binding | 84168 | Q96EC6 |
APOL6 | CHST5 | Human | Protein Binding | 80830 | B3KTP4 |
ASAM | CNTNAP2 | Human | Protein Binding | 79827 | Q9H6B4 |
ATAD3C | CTNNB1 | Human | Protein Binding | 219293 | Q5T2N8 |
ATP13A1 | DAPK1 | Human | Protein Binding | 57130 | Q9HD20 |
ATP6V1C2 | DEPDC5 | Human | Protein Binding | 245973 | Q8NEY4 |
AXL | DLG4 | Human | Protein Binding | 558 | P30530 |
BARX1 | DRD3 | Human | Protein Binding | 56033 | Q9HBU1 |
BMP1 | EPHB6 | Human | Protein Binding | 649 | P13497 |
BMP8A | ESR2 | Human | Protein Binding | 353500 | Q7Z5Y6 |
BTN3A1 | FGD1 | Human | Protein Binding | 11119 | O00481 |
C10orf54 | FOXG1 | Human | Protein Binding | 64115 | Q9H7M9 |
C12orf59 | FOXP2 | Human | Protein Binding | 120939 | Q4KMG9 |
C15orf42 | FRMPD4 | Human | Protein Binding | 90381 | Q7Z2Z1 |
C17orf68 | GABRA4 | Human | Protein Binding | 80169 | Q2NKJ3 |
C1orf69 | GALNT14 | Human | Protein Binding | 200205 | Q5T440 |
C1QTNF6 | GAS2 | Human | Protein Binding | 114904 | Q9BXI9 |
C1S | GLO1 | Human | Protein Binding | 716 | P09871 |
C22orf30 | GNAS | Human | Protein Binding | 253143 | Q5THK1 |
C22orf9 | GNB1L | Human | Protein Binding | 23313 | Q6ICG6 |
C2orf18 | GPC6 | Human | Protein Binding | 54978 | Q8N357 |
C4B | complement component 4B (Chido blood group) | Human | Protein Binding | 721 | P0C0L4 |
C6orf89 | GRID2 | Human | Protein Binding | 221477 | Q6UWU4 |
C7orf27 | GRIK2 | Human | Protein Binding | 221927 | Q6PJG6 |
C8orf30A | GRIN2B | Human | Protein Binding | 51236 | Q9BTY7 |
C8orf79 | GRM5 | Human | Protein Binding | 57604 | Q9P272 |
CCL22 | HTR2A | Human | Protein Binding | 6367 | O00626 |
CD24 | IL1R2 | Human | Protein Binding | 100133941 | B6EC88 |
CD82 | ITGB3 | Human | Protein Binding | 3732 | P27701 |
CHID1 | LEP | Human | Protein Binding | 66005 | Q9BWS9 |
CHML | LMX1B | Human | Protein Binding | 1122 | P26374 |
CHPF | LRFN5 | Human | Protein Binding | 79586 | B4DXU0 |
CHST6 | MACROD2 | Human | Protein Binding | 4166 | Q9GZX3 |
COL4A5 | MET | Human | Protein Binding | 1287 | A7MBN3 |
CORO2A | MSR1 | Human | Protein Binding | 7464 | A8K9S3 |
CPM | MTX2 | Human | Protein Binding | 1368 | P14384 |
CRELD2 | NCKAP5 | Human | Protein Binding | 79174 | Q6UXH1 |
CRLF1 | NDUFA5 | Human | Protein Binding | 9244 | O75462 |
CTAG1A | NFIA | Human | Protein Binding | 246100 | P78358 |
CTAG1B | NIPA1 | Human | Protein Binding | 1485 | P78358 |
CTAG2 | NIPA2 | Human | Protein Binding | 30848 | O75638 |
CTSF | NLGN4Y | Human | Protein Binding | 8722 | Q9UBX1 |
CYB561 | NRXN1 | Human | Protein Binding | 1534 | B3KTA1 |
CYB561D2 | NRXN2 | Human | Protein Binding | 11068 | O14569 |
CYP20A1 | NTRK3 | Human | Protein Binding | 57404 | Q6UW02 |
DDR2 | PCDH10 | Human | Protein Binding | 4921 | Q16832 |
DHRSX | PCDHA4 | Human | Protein Binding | 207063 | Q8N5I4 |
DKFZp761E198 | PDE4A | Human | Protein Binding | 91056 | Q2VPB7 |
DNAJC15 | PHF8 | Human | Protein Binding | 29103 | Q9Y5T4 |
DNASE2 | PLAUR | Human | Protein Binding | 1777 | O00115 |
DNHD1 | PLCB1 | Human | Protein Binding | 144132 | B0I1S4 |
DSEL | PON1 | Human | Protein Binding | 92126 | Q8IZU8 |
DUSP9 | PRSS38 | Human | Protein Binding | 1852 | B2RAL9 |
ECE2 | PSMD10 | Human | Protein Binding | 9718 | O60344 |
ECEL1 | PTCHD1 | Human | Protein Binding | 9427 | O95672 |
EDIL3 | PTPRT | Human | Protein Binding | 10085 | O43854 |
EMP2 | RGS7 | Human | Protein Binding | 2013 | P54851 |
EMR2 | RHOXF1 | Human | Protein Binding | 30817 | A0JNV7 |
EPHX1 | SBF1 | Human | Protein Binding | 2052 | P07099 |
EVPL | SHANK1 | Human | Protein Binding | 2125 | Q92817 |
FADS3 | SLC24A2 | Human | Protein Binding | 3995 | Q9Y5Q0 |
FAM119A | SLC25A14 | Human | Protein Binding | 151194 | Q8WXB1 |
FAM21B | SLC4A10 | Human | Protein Binding | 55747 | Q5SNT6 |
FAM21C | SLC6A4 | Human | Protein Binding | 253725 | Q9Y4E1 |
FAM38B | SLC9A6 | Human | Protein Binding | 63895 | Q6ZS91 |
FAM86A | STK39 | Human | Protein Binding | 196483 | Q96G04 |
FAM86B1 | STXBP1 | Human | Protein Binding | 85002 | Q4KMP3 |
FBXL6 | SYT17 | Human | Protein Binding | 26233 | Q8N531 |
FGFR4 | TBC1D5 | Human | Protein Binding | 2264 | G3JVM2 |
FKBP9 | TDO2 | Human | Protein Binding | 11328 | A7YQ73 |
FLJ39632 | THRA | Human | Protein Binding | 642477 | N/A |
FSTL3 | TRPM1 | Human | Protein Binding | 10272 | O95633 |
GIT2 | ZNF407 | Human | Protein Binding | 9815 | Q14161 |
GLP2R | glucagon-like peptide 2 receptor | Human | Protein Binding | 9340 | O95838 |
GLT8D2 | glycosyltransferase 8 domain containing 2 | Human | Protein Binding | 83468 | Q9H1C3 |
GPR172A | solute carrier family 52 (riboflavin transporter), member 2 | Human | Protein Binding | 79581 | Q9HAB3 |
GPR64 | G protein-coupled receptor 64 | Human | Protein Binding | 10149 | Q8IZP9 |
GPRC5C | G protein-coupled receptor, family C, group 5, member C | Human | Protein Binding | 55890 | Q9BSP0 |
HES2 | hairy and enhancer of split 2 (Drosophila) | Human | Protein Binding | 54626 | Q9Y543 |
HIST1H2AH | histone cluster 1, H2ah | Human | Protein Binding | 85235 | A3KPC7 |
HIST1H2AJ | histone cluster 1, H2aj | Human | Protein Binding | 8331 | Q99878 |
HIST1H2BE | histone cluster 1, H2be | Human | Protein Binding | 8344 | B2R4S9 |
HIST1H3G | histone cluster 1, H3g | Human | Protein Binding | 8355 | P68431 |
HIST2H2AA4 | histone cluster 2, H2aa4 | Human | Protein Binding | 723790 | Q6FI13 |
HIST2H3A | histone cluster 2, H3a | Human | Protein Binding | 333932 | Q71DI3 |
HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Human | Protein Binding | 80270 | Q9H2F3 |
HSPG2 | heparan sulfate proteoglycan 2 | Human | Protein Binding | 3339 | P98160 |
ICOSLG | inducible T-cell co-stimulator ligand | Human | Protein Binding | 23308 | A0N0L8 |
IL17RC | interleukin 17 receptor C | Human | Protein Binding | 84818 | A8BWC9 |
IL1RAP | interleukin 1 receptor accessory protein | Human | Protein Binding | 3556 | A8K6K4 |
IL27RA | interleukin 27 receptor, alpha | Human | Protein Binding | 9466 | Q6UWB1 |
IL4R | interleukin 4 receptor | Human | Protein Binding | 3566 | P24394 |
INHBB | inhibin, beta B | Human | Protein Binding | 3625 | P09529 |
ITGB8 | integrin, beta 8 | Human | Protein Binding | 3696 | P26012 |
KIAA0247 | KIAA0247 | Human | Protein Binding | 9766 | Q92537 |
KIAA0562 | centrosomal protein 104kDa | Human | Protein Binding | 9731 | O60308 |
KIAA0754 | KIAA0754 | Human | Protein Binding | 643314 | O94854 |
KIAA1161 | KIAA1161 | Human | Protein Binding | 57462 | Q6NSJ0 |
KIAA1644 | KIAA1644 | Human | Protein Binding | 85352 | Q3SXP7 |
KMT2A | lysine (K)-specific methyltransferase 2A | Human | Protein Binding | 4297 | Q03164 |
KREMEN2 | kringle containing transmembrane protein 2 | Human | Protein Binding | 79412 | Q53F67 |
LAMC3 | laminin, gamma 3 | Human | Protein Binding | 10319 | Q8N2D6 |
LAMP1 | lysosomal-associated membrane protein 1 | Human | Protein Binding | 3916 | P11279 |
LASS4 | ceramide synthase 4 | Human | Protein Binding | 79603 | Q53HF9 |
LEPREL1 | leprecan-like 1 | Human | Protein Binding | 55214 | D3DNV8 |
LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Human | Protein Binding | 3955 | Q8NES3 |
LGMN | legumain | Human | Protein Binding | 5641 | Q53XC6 |
LOC256374 | Human | Protein Binding | 256374 | N/A | |
LOC390791 | Human | Protein Binding | 390791 | N/A | |
LOC440345 | nuclear pore complex interacting protein family, member B4 | Human | Protein Binding | 440345 | N/A |
LOC440563 | heterogeneous nuclear ribonucleoprotein C pseudogene 5 | Human | Protein Binding | 440563 | B2RXH8 |
LOC441528 | Human | Protein Binding | 441528 | N/A | |
LOC645317 | coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6 | Human | Protein Binding | 645317 | N/A |
LOC646851 | family with sequence similarity 227, member A | Human | Protein Binding | 646851 | F5H4B4 |
LOC646960 | ABAT | Human | Protein Binding | 646960 | P0CW18 |
LOC650157 | Human | Protein Binding | 650157 | N/A | |
LOC728888 | nuclear pore complex interacting protein family, member B11 | Human | Protein Binding | 728888 | N/A |
LOC729086 | Human | Protein Binding | 729086 | N/A | |
LOC729737 | Human | Protein Binding | 729737 | N/A | |
LOC729739 | Human | Protein Binding | 729739 | N/A | |
LOC730268 | Human | Protein Binding | 730268 | N/A | |
LPPR2 | Lipid phosphate phosphatase-related protein type 2 | Human | Protein Binding | 64748 | Q96GM1 |
LRG1 | leucine-rich alpha-2-glycoprotein 1 | Human | Protein Binding | 116844 | P02750 |
LTBR | lymphotoxin beta receptor (TNFR superfamily, member 3) | Human | Protein Binding | 4055 | P36941 |
LY6K | lymphocyte antigen 6 complex, locus K | Human | Protein Binding | 54742 | Q17RY6 |
MAN2B1 | mannosidase, alpha, class 2B, member 1 | Human | Protein Binding | 4125 | O00754 |
MAP3K11 | mitogen-activated protein kinase kinase kinase 11 | Human | Protein Binding | 4296 | Q16584 |
METRN | meteorin, glial cell differentiation regulator | Human | Protein Binding | 79006 | Q9UJH8 |
METRNL | meteorin, glial cell differentiation regulator-like | Human | Protein Binding | 284207 | Q641Q3 |
METTL7A | methyltransferase like 7A | Human | Protein Binding | 25840 | Q9H8H3 |
MGC39584 | Human | Protein Binding | 441058 | N/A | |
MST1R | macrophage stimulating 1 receptor (c-met-related tyrosine kinase) | Human | Protein Binding | 4486 | B4E058 |
MT1G | metallothionein 1G | Human | Protein Binding | 4495 | P13640 |
MUC17 | mucin 17, cell surface associated | Human | Protein Binding | 140453 | Q685J3 |
MXRA7 | matrix-remodelling associated 7 | Human | Protein Binding | 439921 | P84157 |
MYPN | myopalladin | Human | Protein Binding | 84665 | Q86TC9 |
NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Human | Protein Binding | 51172 | Q9UK23 |
NBPF1 | neuroblastoma breakpoint family, member 1 | Human | Protein Binding | 55672 | Q3BBV0 |
NBPF8 | neuroblastoma breakpoint family, member 8 | Human | Protein Binding | 728841 | Q3BBV2 |
NFKBIL2 | tonsoku-like, DNA repair protein | Human | Protein Binding | 4796 | Q96HA7 |
NOMO3 | NODAL modulator 3 | Human | Protein Binding | 408050 | P69849 |
NPR1 | natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) | Human | Protein Binding | 4881 | P16066 |
NXPH4 | neurexophilin 4 | Human | Protein Binding | 11247 | O95158 |
OLFML2A | olfactomedin-like 2A | Human | Protein Binding | 169611 | Q68BL7 |
OPA3 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) | Human | Protein Binding | 80207 | Q9H6K4 |
P2RX5 | purinergic receptor P2X, ligand-gated ion channel, 5 | Human | Protein Binding | 5026 | Q93086 |
P2RY6 | pyrimidinergic receptor P2Y, G-protein coupled, 6 | Human | Protein Binding | 5031 | Q15077 |
PABPC3 | poly(A) binding protein, cytoplasmic 3 | Human | Protein Binding | 5042 | Q5VX58 |
PAGE1 | P antigen family, member 1 (prostate associated) | Human | Protein Binding | 8712 | O75459 |
PAPLN | papilin, proteoglycan-like sulfated glycoprotein | Human | Protein Binding | 89932 | B3KXI1 |
PAPPA | pregnancy-associated plasma protein A, pappalysin 1 | Human | Protein Binding | 5069 | Q13219 |
PBXIP1 | pre-B-cell leukemia homeobox interacting protein 1 | Human | Protein Binding | 57326 | Q96AQ6 |
PCOLCE2 | procollagen C-endopeptidase enhancer 2 | Human | Protein Binding | 26577 | Q9UKZ9 |
PCSK7 | proprotein convertase subtilisin/kexin type 7 | Human | Protein Binding | 9159 | Q16549 |
PCSK9 | proprotein convertase subtilisin/kexin type 9 | Human | Protein Binding | 255738 | Q8NBP7 |
PDIA5 | protein disulfide isomerase family A, member 5 | Human | Protein Binding | 10954 | Q14554 |
PGAM4 | phosphoglycerate mutase family member 4 | Human | Protein Binding | 441531 | Q8N0Y7 |
PHC1 | polyhomeotic homolog 1 (Drosophila) | Human | Protein Binding | 1911 | P78364 |
PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta | Human | Protein Binding | 5293 | A7E2E0 |
PLAC8 | placenta-specific 8 | Human | Protein Binding | 51316 | Q9NZF1 |
PLCXD1 | phosphatidylinositol-specific phospholipase C, X domain containing 1 | Human | Protein Binding | 55344 | Q9NUJ7 |
PMP22 | peripheral myelin protein 22 | Human | Protein Binding | 5376 | Q01453 |
POMZP3 | POM121 and ZP3 fusion | Human | Protein Binding | 22932 | Q6PJE2 |
PPAP2C | phosphatidic acid phosphatase type 2C | Human | Protein Binding | 8612 | O43688 |
PPIC | peptidylprolyl isomerase C (cyclophilin C) | Human | Protein Binding | 5480 | P45877 |
PPP1R16A | protein phosphatase 1, regulatory subunit 16A | Human | Protein Binding | 84988 | Q96I34 |
PPT2 | palmitoyl-protein thioesterase 2 | Human | Protein Binding | 9374 | Q9UMR5 |
PRIC285 | helicase with zinc finger 2, transcriptional coactivator | Human | Protein Binding | 85441 | Q9BYK8 |
PRKX | protein kinase, X-linked | Human | Protein Binding | 5613 | P51817 |
PRR7 | proline rich 7 (synaptic) | Human | Protein Binding | 80758 | Q8TB68 |
PTGES | prostaglandin E synthase | Human | Protein Binding | 9536 | O14684 |
PVRL2 | poliovirus receptor-related 2 (herpesvirus entry mediator B) | Human | Protein Binding | 5819 | Q92692 |
PXMP4 | peroxisomal membrane protein 4, 24kDa | Human | Protein Binding | 11264 | Q9Y6I8 |
RASD2 | RASD family, member 2 | Human | Protein Binding | 23551 | Q96D21 |
REEP6 | receptor accessory protein 6 | Human | Protein Binding | 92840 | Q96HR9 |
RGPD2 | RANBP2-like and GRIP domain containing 2 | Human | Protein Binding | 729857 | B4DYH0 |
RGPD3 | RANBP2-like and GRIP domain containing 3 | Human | Protein Binding | 653489 | A6NKT7 |
RGPD5 | RANBP2-like and GRIP domain containing 5 | Human | Protein Binding | 84220 | Q99666 |
RGPD6 | RANBP2-like and GRIP domain containing 6 | Human | Protein Binding | 729540 | Q99666 |
RGPD8 | RANBP2-like and GRIP domain containing 8 | Human | Protein Binding | 727851 | O14715 |
RHBDD2 | rhomboid domain containing 2 | Human | Protein Binding | 57414 | Q6NTF9 |
RTN4RL1 | reticulon 4 receptor-like 1 | Human | Protein Binding | 146760 | Q86UN2 |
SELS | VCP-interacting membrane protein | Human | Protein Binding | 55829 | Q9BQE4 |
SEMA3B | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B | Human | Protein Binding | 7869 | Q13214 |
SEMA4B | sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B | Human | Protein Binding | 10509 | J3KNP4 |
SH3TC1 | SH3 domain and tetratricopeptide repeats 1 | Human | Protein Binding | 54436 | B3KWX8 |
SLC16A3 | solute carrier family 16, member 3 (monocarboxylic acid transporter 4) | Human | Protein Binding | 9123 | O15427 |
SLC1A4 | solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 | Human | Protein Binding | 6509 | P43007 |
SLC22A5 | solute carrier family 22 (organic cation/carnitine transporter), member 5 | Human | Protein Binding | 6584 | O76082 |
SLC24A6 | solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 | Human | Protein Binding | 80024 | Q6J4K2 |
SLC26A11 | solute carrier family 26 (anion exchanger), member 11 | Human | Protein Binding | 284129 | Q86WA9 |
SLC2A14 | solute carrier family 2 (facilitated glucose transporter), member 14 | Human | Protein Binding | 144195 | Q8TDB8 |
SLC35C2 | solute carrier family 35 (GDP-fucose transporter), member C2 | Human | Protein Binding | 51006 | Q9NQQ7 |
SLC35E4 | solute carrier family 35, member E4 | Human | Protein Binding | 339665 | Q6ICL7 |
SLC45A3 | solute carrier family 45, member 3 | Human | Protein Binding | 85414 | A8K2U9 |
SLC45A4 | solute carrier family 45, member 4 | Human | Protein Binding | 57210 | Q5BKX6 |
SLC5A3 | solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 | Human | Protein Binding | 6526 | P53794 |
SLCO3A1 | solute carrier organic anion transporter family, member 3A1 | Human | Protein Binding | 28232 | Q9UIG8 |
SMPD1 | sphingomyelin phosphodiesterase 1, acid lysosomal | Human | Protein Binding | 6609 | P17405 |
SNX22 | sorting nexin 22 | Human | Protein Binding | 79856 | Q96L94 |
SPARC | secreted protein, acidic, cysteine-rich (osteonectin) | Human | Protein Binding | 6678 | P09486 |
SRGN | serglycin | Human | Protein Binding | 5552 | P10124 |
ST5 | suppression of tumorigenicity 5 | Human | Protein Binding | 6764 | P78524 |
ST8SIA1 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Human | Protein Binding | 6489 | Q92185 |
STEAP4 | STEAP family member 4 | Human | Protein Binding | 79689 | Q687X5 |
SUMF2 | sulfatase modifying factor 2 | Human | Protein Binding | 25870 | Q8NBJ7 |
SUSD2 | sushi domain containing 2 | Human | Protein Binding | 56241 | Q9UGT4 |
SVEP1 | sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 | Human | Protein Binding | 79987 | B3KQM1 |
TBXA2R | thromboxane A2 receptor | Human | Protein Binding | 6915 | P21731 |
TICAM1 | toll-like receptor adaptor molecule 1 | Human | Protein Binding | 148022 | Q8IUC6 |
TMC6 | transmembrane channel-like 6 | Human | Protein Binding | 11322 | Q7Z403 |
TMEM127 | transmembrane protein 127 | Human | Protein Binding | 55654 | O75204 |
TMEM180 | transmembrane protein 180 | Human | Protein Binding | 79847 | Q14CX5 |
TMEM183B | transmembrane protein 183B | Human | Protein Binding | 653659 | Q1AE95 |
TMEM62 | transmembrane protein 62 | Human | Protein Binding | 80021 | Q0P6H9 |
TMSL3 | thymosin beta 4, X-linked pseudogene 8 | Human | Protein Binding | 7117 | N/A |
TNXB | tenascin XB | Human | Protein Binding | 7148 | O95680 |
TP53I13 | tumor protein p53 inducible protein 13 | Human | Protein Binding | 90313 | Q8NBR0 |
TPD52L1 | tumor protein D52-like 1 | Human | Protein Binding | 7164 | F6V707 |
TPP1 | tripeptidyl peptidase I | Human | Protein Binding | 1200 | O14773 |
TRIM47 | tripartite motif containing 47 | Human | Protein Binding | 91107 | Q96LD4 |
TSKU | tsukushi, small leucine rich proteoglycan | Human | Protein Binding | 25987 | Q8WUA8 |
UNC93B1 | unc-93 homolog B1 (C. elegans) | Human | Protein Binding | 81622 | Q05BS6 |
VASN | vasorin | Human | Protein Binding | 114990 | Q6EMK4 |
WISP2 | WNT1 inducible signaling pathway protein 2 | Human | Protein Binding | 8839 | O76076 |
YIPF2 | Yip1 domain family, member 2 | Human | Protein Binding | 78992 | Q9BWQ6 |
ZAK | Mitogen-activated protein kinase kinase kinase MLT | Human | Protein Binding | 51776 | Q9NYL2 |
ZFPM1 | zinc finger protein, FOG family member 1 | Human | Protein Binding | 161882 | Q8IX07 |