Identity
HGNC
LOCATION
5q32
LOCUSID
ALIAS
D5S1708,DTD,DTDST,EDM4,MST153,MSTP157
FUSION GENES
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: 1836
MIM: 606718
HGNC: 10994
Ensembl: ENSG00000155850
Variants:
dbSNP: 1836
ClinVar: 1836
TCGA: ENSG00000155850
COSMIC: SLC26A2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000155850 | ENST00000286298 | P50443 |
| ENSG00000155850 | ENST00000433184 | C9JAN6 |
| ENSG00000155850 | ENST00000503336 | H0YA38 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38956600 | 2024 | Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis. | 0 |
| 38956600 | 2024 | Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis. | 0 |
| 36007841 | 2022 | Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias. | 1 |
| 36140680 | 2022 | Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4. | 2 |
| 36007841 | 2022 | Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias. | 1 |
| 36140680 | 2022 | Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4. | 2 |
| 31880411 | 2020 | Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. | 1 |
| 31880411 | 2020 | Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. | 1 |
| 30423444 | 2019 | Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. | 8 |
| 30462520 | 2019 | Role of N-glycosylation in the expression of human SLC26A2 and A3 anion transport membrane glycoproteins (1). | 1 |
| 30423444 | 2019 | Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. | 8 |
| 30462520 | 2019 | Role of N-glycosylation in the expression of human SLC26A2 and A3 anion transport membrane glycoproteins (1). | 1 |
| 29024831 | 2018 | Multiple SLC26A2 mutations occurring in a three-generational family. | 6 |
| 29724173 | 2018 | Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report. | 3 |
| 29024831 | 2018 | Multiple SLC26A2 mutations occurring in a three-generational family. | 6 |
Citation
Dessen P
SLC26A2 (solute carrier family 26 member 2)
Atlas Genet Cytogenet Oncol Haematol. 2008-01-01
Online version: http://atlasgeneticsoncology.org/gene/49972/slc26a2
