SLC16A2 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC16A2 (HGNC:10923) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 16 member 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DXS128, AHDS, MRX22
- Alias symbols
- XPCT, MCT8, MCT7, DXS128E
- %HI
- 25.73(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.22(Read more about gnomAD LOEUF score)
- Cytoband
- Xq13.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:73641328-73753751 NCBI Ensembl UCSC GRCh38/hg38: chrX:74421493-74533916 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006517.5 ENST00000587091.6 (Read more about MANE Select)
- Function
- Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3- diiodothyronine (3,3'-T2) (PubMed:23550058, PubMed:26426690, PubMed:16887882, PubMed:27805744, PubMed:20628049, PubMed:18337592, PubMed:31436139). Acts as an important mediator of thyroid hormone transport, especially T3, through the blood... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Allan-Herndon-Dudley syndrome Monarch
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.