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)