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:
- Joubert syndrome 14 Monarch
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)