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

    Gene ID: 84908, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:25911
    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
    mouse all
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    Genomic context

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    See FAM136A in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70295976..70302067, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70307726..70313817, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 11609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11610 Neighboring gene prenylcysteine oxidase 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70519630-70520537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16007 Neighboring gene uncharacterized LOC124906023 Neighboring gene small nuclear ribonucleoprotein polypeptide G Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70527535-70528484 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70528485-70529433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11612 Neighboring gene Sharpr-MPRA regulatory region 10868 Neighboring gene bromodomain containing 7 pseudogene 6 Neighboring gene tRNA-undetermined (NNN) 9-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. FAM136A immunoreactivity is associated with nodal involvement and survival in lung adenocarcinoma in a Chinese case series. Zhao L, et al. Bioengineered, 2020 Dec. PMID 32098576, Free PMC Article
    2. Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease. Requena T, et al. Hum Mol Genet, 2015 Feb 15. PMID 25305078, Free PMC Article
    3. Genetics of vestibular disorders: pathophysiological insights. Frejo L, et al. J Neurol, 2016 Apr. PMID 27083884, Free PMC Article
    4. The SWI/SNF chromatin remodeling factor DPF3 regulates metastasis of ccRCC by modulating TGF-β signaling. Cui H, et al. Nat Commun, 2022 Aug 9. PMID 35945219, Free PMC Article
    5. AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation. Hülsmann J, et al. Mol Cell Proteomics, 2018 Jul. PMID 29599191, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM136A immunoreactivity is associated with nodal involvement and survival in lung adenocarcinoma in a Chinese case series.
      Title: FAM136A immunoreactivity is associated with nodal involvement and survival in lung adenocarcinoma in a Chinese case series.
    2. This study showed that FAM136A genes have been identified in familial Meniere's disease.
      Title: Genetics of vestibular disorders: pathophysiological insights.
    3. our findings suggest that novel mutations in FAM136A and DTNA genes are probably causal variants in FMD.
      Title: Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein FAM136A

    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_001329752.2 → NP_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:132 → 234
      DUF842; Eukaryotic protein of unknown function (DUF842)

    2. NM_001329753.2 → NP_001316682.1  protein FAM136A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK225151, BC026293, BE313508, HY161689

    3. NM_001329755.2 → NP_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:1 → 96
      DUF842; Eukaryotic protein of unknown function (DUF842)

    4. NM_001329757.2 → NP_001316686.1  protein FAM136A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK225151, AK315877, BC026293, BP334741
      UniProtKB/TrEMBL
      B0AZT6
      Conserved Domains (1) summary
      pfam05811
      Location:1 → 96
      DUF842; Eukaryotic protein of unknown function (DUF842)

    5. NM_001329758.2 → NP_001316687.1  protein FAM136A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK225151, BC026293, BP334741, CB108776
      UniProtKB/TrEMBL
      B0AZT6
      Conserved Domains (1) summary
      pfam05811
      Location:1 → 96
      DUF842; Eukaryotic protein of unknown function (DUF842)

    6. NM_032822.3 → NP_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, Q96SS3
      Related
      ENSP00000037869.3, ENST00000037869.8
      Conserved Domains (1) summary
      pfam05811
      Location:5 → 127
      DUF842; Eukaryotic protein of unknown function (DUF842)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      70307726..70313817 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96C01.1 GenPept UniProtKB/Swiss-Prot:Q96C01

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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