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FAM136A family with sequence similarity 136 member A [ Homo sapiens (human) ]

Gene ID: 84908, updated on 4-Jul-2021

Summary

Official Symbol
FAM136Aprovided by HGNC
Official Full Name
family with sequence similarity 136 member Aprovided by HGNC
Primary source
HGNC:HGNC:25911
See related
Ensembl:ENSG00000035141 MIM:616275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Ubiquitous expression in duodenum (RPKM 18.8), thyroid (RPKM 18.0) and 25 other tissues See more
Orthologs
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Genomic context

See FAM136A in Genome Data Viewer
Location:
2p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70295976..70302067, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70523108..70529199, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene prenylcysteine oxidase 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G Neighboring gene bromodomain containing 7 pseudogene 6 Neighboring gene tRNA-undetermined (NNN) 9-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14668

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051290.1 RefSeqGene

    Range
    5022..11113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329752.2NP_001316681.1  protein FAM136A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC022201, AK225151, BC026293, BU186527, CB108776
    Consensus CDS
    CCDS86849.1
    UniProtKB/TrEMBL
    E7EQY1
    Related
    ENSP00000397269.1, ENST00000430566.6
    Conserved Domains (1) summary
    pfam05811
    Location:132234
    DUF842; Eukaryotic protein of unknown function (DUF842)
  2. NM_001329753.2NP_001316682.1  protein FAM136A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK225151, BC026293, BE313508, HY161689
  3. NM_001329755.2NP_001316684.1  protein FAM136A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK225151, BC026293, BP334741, CB108776
    UniProtKB/TrEMBL
    B0AZT6
    Related
    ENST00000460307.1
    Conserved Domains (1) summary
    pfam05811
    Location:196
    DUF842; Eukaryotic protein of unknown function (DUF842)
  4. NM_001329757.2NP_001316686.1  protein FAM136A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK225151, AK315877, BC026293, BP334741
    UniProtKB/TrEMBL
    B0AZT6
    Conserved Domains (1) summary
    pfam05811
    Location:196
    DUF842; Eukaryotic protein of unknown function (DUF842)
  5. NM_001329758.2NP_001316687.1  protein FAM136A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK225151, BC026293, BP334741, CB108776
    UniProtKB/TrEMBL
    B0AZT6
    Conserved Domains (1) summary
    pfam05811
    Location:196
    DUF842; Eukaryotic protein of unknown function (DUF842)
  6. NM_032822.3NP_116211.2  protein FAM136A isoform 1

    See identical proteins and their annotated locations for NP_116211.2

    Status: REVIEWED

    Source sequence(s)
    AK027574, AK225151, CB853567, DB266394
    Consensus CDS
    CCDS1904.1
    UniProtKB/Swiss-Prot
    Q96C01
    Related
    ENSP00000037869.3, ENST00000037869.7
    Conserved Domains (1) summary
    pfam05811
    Location:5127
    DUF842; Eukaryotic protein of unknown function (DUF842)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    70295976..70302067 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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