TMEM231
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TMEM231 (HGNC:37234) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane protein 231
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ22167, ALYE870, PRO1886, JBTS20, MKS11
%HI
40.93(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
16q23.1
Genomic Coordinates
GRCh37/hg19: chr16:75570639-75590184 NCBI Ensembl UCSC
GRCh38/hg38: chr16:75536741-75556286 NCBI Ensembl UCSC
MANE Select Transcript
NM_001077418.3 ENST00000258173.11 (Read more about MANE Select)
Function
Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16950
ClinGen Curation ID:
CCID:008014
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
  • Joubert syndrome and related disorders Monarch
HI Evidence Comments:
Variants in TMEM231 have been associated with Joubert Syndrome and Meckel syndrome. These diseases have significant phenotypic overlap, so the term Joubert syndrome and related disorders has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)