TMEM237

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TMEM237 (HGNC:14432) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane protein 237
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ALS2CR4
Alias symbols
JBTS14
%HI
49.64(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.25(Read more about gnomAD LOEUF score)
Cytoband
2q33.1
Genomic Coordinates
GRCh37/hg19: chr2:202484909-202508226 NCBI Ensembl UCSC
GRCh38/hg38: chr2:201620186-201643503 NCBI Ensembl UCSC
MANE Select Transcript
NM_001044385.3 ENST00000409883.7 (Read more about MANE Select)
Function
Component of the transition zone in primary cilia. Required for ciliogenesis. {ECO:0000269|PubMed:22152675}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36994
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/09/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in TMEM237 have been described in Joubert syndrome, and autosomal recessive condition.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)