SLC16A12 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC16A12 (HGNC:23094) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 16 member 12
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MCT12, CRT2
- %HI
- 29.69(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.49(Read more about gnomAD pLI score)
- LOEUF
- 0.48(Read more about gnomAD LOEUF score)
- Cytoband
- 10q23.31
- Genomic Coordinates
-
GRCh37/hg19: chr10:91190056-91295351 NCBI Ensembl UCSC GRCh38/hg38: chr10:89430299-89556704 NCBI Ensembl UCSC - MANE Select Transcript
- NM_213606.4 ENST00000371790.5 (Read more about MANE Select)
- Function
- Functions as a transporter for creatine and as well for its precursor guanidinoacetate. Transport of creatine and GAA is independent of resting membrane potential and extracellular Na(+), Cl(-), or pH. Contributes to the process of creatine biosynthesis and distribution. {ECO:0000269|PubMed:23578822, ECO:0000269|PubMed:26376857, ECO:0000269|PubMed:31784090, ECO:0000269|PubMed:32249133, ECO:0000269|PubMed:32781157}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-14945
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
12/21/2011
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- juvenile cataract-microcornea-renal glucosuria syndrome Monarch
HI Evidence:
-
PUBMED:
PMID: 18304496
Kloeckener-Gruissem (2008): One family with juvenile cataract, microcornea, and renal glucosuria had a nonsense mutation that was predicted to cause a truncated protein.
HI Evidence Comments:
Juvenile cataract with microcornea and renal glucosuria
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)