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)

Dosage ID:
ISCA-9463
ClinGen Curation ID:
CCID:007862
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/28/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence Comments:
Loss of function mutations (including whole and partial gene deletion, nonsense, and frameshift) are associated with MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency (Allan-Herndon-Dudley Syndrome) in males. Female carriers often show some thyroid test abnormalities but do not have psychomotor findings. See GeneReviews.
NOTE:

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

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

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.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)