SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 9
Autism Reports / Total Reports
10 / 17Rare Variants / Common Variants
17 / 6Aliases
SLC9A9, NHE9Associated Syndromes
-Chromosome Band
3q24Associated Disorders
IDRelevance to Autism
Rare variants in the SLC9A9 gene have been identified with autism in the HMCA cohort (Morrow et al., 2008). In addition, rare variants in SLC9A9 have been identified with ADHD and genetic association has been found with age of onset of ADHD.
Molecular Function
enzyme involved in pH regulation
External Links
SFARI Genomic Platforms
Reports related to SLC9A9 (17 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype | de Silva MG , et al. (2003) | No | ID |
2 | Recent Recommendation | Vestibular hair bundles control pH with (Na+, K+)/H+ exchangers NHE6 and NHE9 | Hill JK , et al. (2006) | No | - |
3 | Recent Recommendation | Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1 | Ohgaki R , et al. (2007) | No | - |
4 | Primary | Identifying autism loci and genes by tracing recent shared ancestry | Morrow EM , et al. (2008) | Yes | - |
5 | Recent Recommendation | Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder | Lasky-Su J , et al. (2008) | No | - |
6 | Support | Genes for endosomal NHE6 and NHE9 are misregulated in autism brains | Schwede M , et al. (2013) | Yes | - |
7 | Recent Recommendation | Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder | Vardarajan BN , et al. (2013) | No | - |
8 | Recent Recommendation | Functional evaluation of autism-associated mutations in NHE9 | Kondapalli KC , et al. (2013) | Yes | - |
9 | Support | Exonic deletion of SLC9A9 in autism with epilepsy | Cardon M , et al. (2016) | Yes | - |
10 | Support | SLC9A9 Co-expression modules in autism-associated brain regions | Patak J , et al. (2016) | No | - |
11 | Support | A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry | Ullman JC , et al. (2018) | No | - |
12 | Support | Effect of disease-associated SLC9A9 mutations on protein-protein interaction networks: implications for molecular mechanisms for ADHD and autism | Zhang-James Y , et al. (2019) | Yes | - |
13 | Support | - | Mir A et al. (2021) | Yes | - |
14 | Support | - | Woodbury-Smith M et al. (2022) | Yes | - |
15 | Support | - | Zhou X et al. (2022) | Yes | - |
16 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
17 | Support | - | Sheth F et al. (2023) | Yes | DD, ID |
Rare Variants (17)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | inversion | Familial | - | Multiplex | 14569117 | de Silva MG , et al. (2003) | |
A>G | - | splice_site_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.1195G>A | p.Gly399Arg | missense_variant | De novo | - | - | 34797406 | Mir A et al. (2021) | |
- | - | copy_number_loss | Familial | Both parents | Simplex | 18621663 | Morrow EM , et al. (2008) | |
c.63G>C | p.Ala21%3D | synonymous_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.992-2A>G | p.? | splice_site_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.1485G>A | p.Leu495= | missense_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.1583T>C | p.Met528Thr | missense_variant | Unknown | - | Multiplex | 37543562 | Sheth F et al. (2023) | |
- | - | copy_number_loss | Familial | Paternal | Multi-generational | 27123481 | Cardon M , et al. (2016) | |
c.349C>A | p.Pro117Thr | missense_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.526G>A | p.Val176Ile | missense_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.707T>C | p.Leu236Ser | missense_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.171G>T | p.Val57%3D | synonymous_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.1312T>C | p.Ser438Pro | missense_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.1824C>A | p.Asp608Glu | missense_variant | Unknown | - | Unknown | 18621663 | Morrow EM , et al. (2008) | |
c.1267C>T | p.Arg423Ter | stop_gained | Familial | Maternal | Multiplex | 18621663 | Morrow EM , et al. (2008) | |
c.1267C>T | p.Arg423Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants (6)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | intergenic_variant | - | - | - | 18937294 | Lasky-Su J , et al. (2008) | |
- | N/A | downstream_gene_variant | - | - | - | 18937294 | Lasky-Su J , et al. (2008) | |
c.534-25975A>G | - | intron_variant | - | - | - | 18937294 | Lasky-Su J , et al. (2008) | |
c.534-30711G>A | N/A | intron_variant | - | - | - | 18937294 | Lasky-Su J , et al. (2008) | |
c.756-16398A>G;c.108-16398A>G | - | intron_variant | - | - | - | 18937294 | Lasky-Su J , et al. (2008) | |
c.755+12312T>C;c.107+12312T>C | N/A | intron_variant | - | - | - | 18937294 | Lasky-Su J , et al. (2008) |
SFARI Gene score
Strong Candidate
Rare sequence variants in the SLC9A9 gene were observed in autism.
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
Rare sequence variants in the SLC9A9 gene were observed in autism.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
Rare sequence variants in the SLC9A9 gene were observed in autism.
Reports Added
[New Scoring Scheme]4/1/2019
Decreased from 4 to 4
Description
Rare sequence variants in the SLC9A9 gene were observed in autism.
7/1/2016
Decreased from 4 to 4
Description
Rare sequence variants in the SLC9A9 gene were observed in autism.
4/1/2016
Decreased from 4 to 4
Description
Rare sequence variants in the SLC9A9 gene were observed in autism.
Reports Added
[Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like ph...2003] [Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.2008] [Identifying autism loci and genes by tracing recent shared ancestry.2008] [Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.2013] [Functional evaluation of autism-associated mutations in NHE9.2013] [Vestibular hair bundles control pH with (Na, K)/H exchangers NHE6 and NHE9.2006] [Cell surface levels of organellar Na? exchanger isoform 6 are regulated by interaction with RACK1.2007] [Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.2013] [Exonic deletion of SLC9A9 in autism with epilepsy.2016]7/1/2014
Increased from No data to 4
Description
Rare sequence variants in the SLC9A9 gene were observed in autism.
4/1/2014
Increased from No data to 4
Description
Rare sequence variants in the SLC9A9 gene were observed in autism.
Krishnan Probability Score
Score 0.48603578662928
Ranking 7256/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 2.4774052099267E-8
Ranking 16012/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.69134306423758
Ranking 1104/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 38
Ranking 56/461 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.15653683105804
Ranking 14324/20870 scored genes
[Show Scoring Methodology]