FAM136A

Protein identityUniProt · HPA

UniProt accession

Q96C01

Gene

FAM136A

Ensembl

ENSG00000035141

Chromosome

2

Canonical length

138 aa

Protein class

Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

138 residues, UniProt reviewed canonical sequence.

>Q96C01|FAM136A
     1  MAELQQLRVQ EAVESMVKSL ERENIRKMQG LMFRCSASCC EDSQASMKQV HQCIERCHVP
    61  LAQAQALVTS ELEKFQDRLA RCTMHCNDKA KDSIDAGSKE LQVKQQLDSC VTKCVDDHMH
   121  LIPTMTKKMK EALLSIGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM136A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM136A.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 29 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Meniere disease

Disease | ImmuneIEDB

Conditions an epitope on FAM136A was assayed in.

• skin melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.73

gnomAD pLI

0

gnomAD missense Z

-0.06

DepMap mean gene effect

-0.52

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• cytoplasm
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Protein of unknown function DUF842, eukaryotic
• Eukaryotic protein of unknown function (DUF842)

KeywordsUniProt

• Acetylation
• Phosphoprotein