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    FAM160A2 family with sequence similarity 160 member A2 [ Homo sapiens (human) ]

    Gene ID: 84067, updated on 12-Aug-2018

    Summary

    Official Symbol
    FAM160A2provided by HGNC
    Official Full Name
    family with sequence similarity 160 member A2provided by HGNC
    Primary source
    HGNC:HGNC:25378
    See related
    Ensembl:ENSG00000051009 Vega:OTTHUMG00000133379
    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
    Also known as
    FHIP; C11orf56
    Summary
    The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in small intestine (RPKM 16.8), duodenum (RPKM 16.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See FAM160A2 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (6211334..6234711, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6232564..6255941, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 52 subfamily B member 2 Neighboring gene olfactory receptor family 52 subfamily W member 1 Neighboring gene chromosome 11 open reading frame 42 Neighboring gene cyclic nucleotide gated channel alpha 4 Neighboring gene cholecystokinin B receptor

    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 Jun 15 11:32:44 2016

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22665, KIAA1759, DKFZp566M1046

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    FHF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    FTS and Hook-interacting protein

    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_052832.1 RefSeqGene

      Range
      5001..28378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098794.1NP_001092264.1  FTS and Hook-interacting protein isoform 2

      See identical proteins and their annotated locations for NP_001092264.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AB051546, BC030825, DA389621
      Consensus CDS
      CCDS44530.1
      UniProtKB/Swiss-Prot
      Q8N612
      Related
      ENSP00000416918.2, OTTHUMP00000229564, ENST00000449352.6, OTTHUMT00000383759
      Conserved Domains (2) summary
      pfam04814
      Location:454567
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
      pfam10257
      Location:97426
      RAI16-like; Retinoic acid induced 16-like protein
    2. NM_032127.3NP_115503.2  FTS and Hook-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_115503.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB051546, AL136723, BC030825, DA389621
      Consensus CDS
      CCDS7760.1
      UniProtKB/Swiss-Prot
      Q8N612
      Related
      ENSP00000265978.4, OTTHUMP00000164536, ENST00000265978.8, OTTHUMT00000257229
      Conserved Domains (2) summary
      pfam04814
      Location:454581
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
      pfam10257
      Location:97426
      RAI16-like; Retinoic acid induced 16-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      6211334..6234711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718343.3XP_006718406.1  FTS and Hook-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_006718406.1

      UniProtKB/Swiss-Prot
      Q8N612
      Conserved Domains (2) summary
      pfam04814
      Location:454581
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
      pfam10257
      Location:97426
      RAI16-like; Retinoic acid induced 16-like protein
    2. XM_011520397.2XP_011518699.1  FTS and Hook-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_011518699.1

      UniProtKB/Swiss-Prot
      Q8N612
      Conserved Domains (2) summary
      pfam04814
      Location:454581
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
      pfam10257
      Location:97426
      RAI16-like; Retinoic acid induced 16-like protein
    3. XM_024448710.1XP_024304478.1  FTS and Hook-interacting protein isoform X3

      Conserved Domains (2) summary
      pfam04814
      Location:454567
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
      pfam10257
      Location:97426
      RAI16-like; Retinoic acid induced 16-like protein
    4. XM_011520398.3XP_011518700.1  FTS and Hook-interacting protein isoform X2

      Conserved Domains (2) summary
      pfam04814
      Location:454581
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
      pfam10257
      Location:97426
      RAI16-like; Retinoic acid induced 16-like protein

    RNA

    1. XR_002957205.1 RNA Sequence

    2. XR_001747999.2 RNA Sequence

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