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)
Triplosensitivity:
Not Yet Evaluated
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)