SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 10
Autism Reports / Total Reports
4 / 10Rare Variants / Common Variants
23 / 0Aliases
SLC4A10, NBCn2, NCBEAssociated Syndromes
-Chromosome Band
2q24.2Associated Disorders
-Relevance to Autism
A rare CNV in the SLC4A10 gene has been identified with autism in AGRE, NIMH and additional cohorts (Sebat et al., 2007). In addition, a rare translocation involving the SLC4A10 gene has been identified with epilepsy and cognitive impairment in a patient (Gurnett et al., 2008). More recently, biallelic variants in the SLC4A10 gene have been found to cause an autosomal recessive neurodevelopmental disorder in which a subset of affected individuals presented with autistic features or stereotypy (Fasham et al., 2023; Maroofian et al., 2024).
Molecular Function
inorganic anion exchanger activity
External Links
SFARI Genomic Platforms
Reports related to SLC4A10 (10 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | A SCL4A10 gene product maps selectively to the basolateral plasma membrane of choroid plexus epithelial cells | Praetorius J , et al. (2003) | No | - |
2 | Recent Recommendation | Sodium coupled bicarbonate transporters in the kidney, an update | Aalkjaer C , et al. (2004) | No | - |
3 | Primary | Strong association of de novo copy number mutations with autism | Sebat J , et al. (2007) | Yes | - |
4 | Recent Recommendation | Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability | Jacobs S , et al. (2008) | No | - |
5 | Recent Recommendation | Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation | Gurnett CA , et al. (2008) | No | MR |
6 | Support | Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation | Nilsson D , et al. (2016) | Yes | - |
7 | Support | - | Zhou X et al. (2022) | Yes | - |
8 | Support | - | James Fasham et al. (2023) | No | Stereotypy, epilepsy/seizures |
9 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
10 | Recent Recommendation | - | Reza Maroofian et al. (2024) | No | Autistic features, epilepsy/seizures |
Rare Variants (23)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | translocation | De novo | - | - | 27862604 | Nilsson D , et al. (2016) | |
- | - | translocation | De novo | - | - | 18413482 | Gurnett CA , et al. (2008) | |
- | - | copy_number_loss | De novo | - | Simplex | 17363630 | Sebat J , et al. (2007) | |
c.577+1G>T | - | splice_site_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1195G>T | p.Val399Leu | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1366C>G | p.Pro456Ala | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
- | - | copy_number_loss | Familial | Both parents | Multiplex | 37459438 | James Fasham et al. (2023) | |
c.1570del | p.Val524SerfsTer16 | frameshift_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1052G>C | p.Arg351Thr | missense_variant | De novo | - | Simplex | 38054405 | Reza Maroofian et al. (2024) | |
c.1570del | p.Val524SerfsTer16 | frameshift_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.767-2A>G | - | splice_site_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.2269C>T | p.Arg757Ter | stop_gained | Familial | Both parents | Simplex | 37459438 | James Fasham et al. (2023) | |
c.2863-2A>C | - | splice_site_variant | Familial | Both parents | Multiplex | 37459438 | James Fasham et al. (2023) | |
c.81+2T>C | - | splice_site_variant | Familial | Both parents | Multiplex | 38054405 | Reza Maroofian et al. (2024) | |
c.1612C>T | p.Arg538Cys | missense_variant | Familial | Paternal | Simplex | 38054405 | Reza Maroofian et al. (2024) | |
c.1864C>T | p.Arg622Trp | missense_variant | Familial | Maternal | Simplex | 38054405 | Reza Maroofian et al. (2024) | |
c.2118G>T | p.Leu706Phe | missense_variant | Familial | Maternal | Simplex | 38054405 | Reza Maroofian et al. (2024) | |
c.1730A>T | p.Lys577Met | missense_variant | Familial | Both parents | Multiplex | 37459438 | James Fasham et al. (2023) | |
c.3308A>T | p.Asn1103Ile | missense_variant | Familial | Both parents | Multiplex | 37459438 | James Fasham et al. (2023) | |
c.667C>T | p.His223Tyr | missense_variant | Familial | Both parents | Multiplex | 38054405 | Reza Maroofian et al. (2024) | |
c.2162A>G | p.Tyr721Cys | missense_variant | Familial | Both parents | Multiplex | 38054405 | Reza Maroofian et al. (2024) | |
c.2894C>T | p.Pro965Leu | missense_variant | Familial | Both parents | Multiplex | 38054405 | Reza Maroofian et al. (2024) | |
c.2619G>A | p.Trp873Ter | stop_gained | Familial | Both parents | Extended multiplex | 37459438 | James Fasham et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


A single individual with a deletion was reported by Sebat et al., 2007 (PMID: 17363630).
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
A single individual with a deletion was reported by Sebat et al., 2007 (PMID: 17363630).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
A single individual with a deletion was reported by Sebat et al., 2007 (PMID: 17363630).
Reports Added
[New Scoring Scheme]1/1/2017

Decreased from 4 to 4
Description
A single individual with a deletion was reported by Sebat et al., 2007 (PMID: 17363630).
7/1/2014

Increased from No data to 4
Description
A single individual with a deletion was reported by Sebat et al., 2007 (PMID: 17363630).
4/1/2014

Increased from No data to 4
Description
A single individual with a deletion was reported by Sebat et al., 2007 (PMID: 17363630).
Krishnan Probability Score
Score 0.4969506655495
Ranking 2473/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.0026355437261549
Ranking 11092/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.9415065632116
Ranking 14958/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.5753268837689
Ranking 151/20870 scored genes
[Show Scoring Methodology]