FAM136A
Sign in to saveAlso known as family with sequence similarity 136 member A
Protein FAM136A is a protein that in humans is encoded by the FAM136A gene.
Gene data
TIMCC- Name
- TIM double twin CX3C motif chaperone
- Type
- protein-coding
- Position
- 70,295,975–70,302,086 (−)
- Aliases
- FAM136A
- Ensembl
- ENSG00000035141
- RefSeq RNA
- NM_001329752.2, NM_001329753.2, NM_001329755.2, NM_001329757.2, NM_001329758.2
- RefSeq protein
- NP_001316681.1, NP_001316682.1, NP_001316684.1, NP_001316686.1, NP_001316687.1
This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016].
Gene Ontology
Molecular function
via MyGene.info
Gene · Ensembl
family with sequence similarity 136 member A
- Symbol
- FAM136A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:70,295,975-70,302,086
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- exact match
- identifiers.org/ncbigene/84908
- HomoloGene ID
- 135942
- found in taxon
- Homo sapiens
- genomic end
- 70529222
- chromosome
- human chromosome 2
- genomic start
- 70523107
- cytogenetic location
- 2p13.3
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- Clinical significance
- References
- Further reading
Protein FAM136A is a protein that in humans is encoded by the FAM136A gene.
== Clinical significance == Mutations in FAM136A are associated to Ménière's disease.
Excerpted from Wikipedia’s “FAM136A” article, available under the CC BY-SA 4.0 licence.