TMCO1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TMCO1 (HGNC:18188) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane and coiled-coil domains 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TMCC4
Alias symbols
HP10122
%HI
14.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.41(Read more about gnomAD LOEUF score)
Cytoband
1q24.1
Genomic Coordinates
GRCh37/hg19: chr1:165693528-165738159 NCBI Ensembl UCSC
GRCh38/hg38: chr1:165724291-165768922 NCBI Ensembl UCSC
MANE Select Transcript
NM_019026.6 ENST00000367881.11 (Read more about MANE Select)
Function
Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum (ER) overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239). Component of the multi- pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of m... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26228
ClinGen Curation ID:
CCID:008011
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:
  • craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)