SLC4A10 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC4A10 (HGNC:13811) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 4 member 10
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- NBCn2, NCBE
- %HI
- 5.94(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.13(Read more about gnomAD pLI score)
- LOEUF
- 0.38(Read more about gnomAD LOEUF score)
- Cytoband
- 2q24.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:162480926-162841780 NCBI Ensembl UCSC GRCh38/hg38: chr2:161624416-161985270 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001178015.2 ENST00000446997.6 (Read more about MANE Select)
- Function
- Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH (PubMed:18319254). Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been shown to act as a sodium/biocarbonate cotransporter which does not couple net influx of bicarbonate to net efflux of chloride, with the observed chloride efflux being due to chloride self-exchange (PubMed:18319254). Controls neuronal pH and may contribute t... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30089
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/11/2012
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
PMID:17363630
Sebat et al. (2007) identified a de novo intragenic deletion of SLC4A10 in a set of monozygotic twins concordant for autism.
HI Evidence Comments:
Loss of function mutations of SLC4A10 result in neurological disorders including autism, epilepsy, and intellectual disability. Gurnett et al. (2008) reported a de novo balanced translocation that disrupted the coding region of SLC4A10 on chromosome 2 and no genes on chromosome 13. The patient had complex partial epilepsy and moderate intellectual disability (PMID:18413482).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)