TRPM1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRPM1 (HGNC:7146) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transient receptor potential cation channel subfamily M member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MLSN1
Alias symbols
LTRPC1, CSNB1C
%HI
57.82(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.84(Read more about gnomAD LOEUF score)
Cytoband
15q13.3
Genomic Coordinates
GRCh37/hg19: chr15:31293268-31453363 NCBI Ensembl UCSC
GRCh38/hg38: chr15:31001065-31161160 NCBI Ensembl UCSC
MANE Select Transcript
NM_001252024.2 ENST00000256552.11 (Read more about MANE Select)
Function
Forms nonselective divalent cation-conducting channels which mediate the influx of Na(+), Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization (PubMed:19436059, PubMed:21278253). Impermeable to zinc ions (PubMed:21278253). In addition, forms heteromultimeric ion channels with TRPM3 which are permeable for calcium and zinc ions (PubMed:21278253). Essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26872
ClinGen Curation ID:
CCID:008049
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital stationary night blindness 1C Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)