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

Gene ID: 84908, updated on 5-Mar-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
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Genomic context

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Location:
2p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70295976..70302067, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70307726..70313817, complement)
105.20220307 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 (38) 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)

Genotypes

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
  

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_2023_10

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

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