Human Gene Module / Chromosome 22 / TOP3B

TOP3BTopoisomerase (DNA) III beta

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 6
Rare Variants / Common Variants
2 / 1
Aliases
-
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Genetic Association, Functional
Chromosome Band
22q11.22
Associated 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).

Reports related to TOP3B (6 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 -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss Unknown - Multi-generational 27880953 Kaufman CS , et al. (2016)
c.1996T>C p.Cys666Arg missense_variant De novo NA 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
3

Suggestive Evidence

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 4

3

Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.

10/1/2019
4
icon
3

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
4.5
icon
4

Decreased from 4.5 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
icon
4

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]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.11452801261758

Ranking 7717/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.79165623784622

Ranking 2071/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Larsen Cumulative Evidence Score

Score 4

Ranking 325/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score 0.46856594084529

Ranking 759/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
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
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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