Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 83959
MIM: 610206
HGNC: 16438
Ensembl: ENSG00000088836
Variants:
dbSNP: 83959
ClinVar: 83959
TCGA: ENSG00000088836
COSMIC: SLC4A11
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38252645 | 2024 | Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells. | 0 |
| 38252645 | 2024 | Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells. | 0 |
| 37787991 | 2023 | Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy. | 0 |
| 37788993 | 2023 | Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP(2). | 5 |
| 37787991 | 2023 | Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy. | 0 |
| 37788993 | 2023 | Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP(2). | 5 |
| 33879471 | 2022 | Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families. | 2 |
| 35291925 | 2022 | Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family. | 1 |
| 35993514 | 2022 | Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport. | 0 |
| 36037197 | 2022 | Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan. | 4 |
| 36115991 | 2022 | Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy. | 4 |
| 33879471 | 2022 | Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families. | 2 |
| 35291925 | 2022 | Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family. | 1 |
| 35993514 | 2022 | Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport. | 0 |
| 36037197 | 2022 | Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan. | 4 |
Citation
Dessen P
SLC4A11 (solute carrier family 4 member 11)
Atlas Genet Cytogenet Oncol Haematol. 2018-02-01
Online version: http://atlasgeneticsoncology.org/gene/57323/slc4a11-(solute-carrier-family-4-member-11)
