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)