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

    Gene ID: 84908, updated on 17-Jun-2019

    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

    Genomic context

    See FAM136A in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70295976..70302067, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70523108..70529293, 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 transfer RNA-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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ14668

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     

    NCBI Reference Sequences (RefSeq)

    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
      5001..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
      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 Annotation Release 109

    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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