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    ABCF2 ATP binding cassette subfamily F member 2 [ Homo sapiens (human) ]

    Gene ID: 10061, updated on 5-Sep-2021

    Summary

    Official Symbol
    ABCF2provided by HGNC
    Official Full Name
    ATP binding cassette subfamily F member 2provided by HGNC
    Primary source
    HGNC:HGNC:71
    See related
    Ensembl:ENSG00000033050 MIM:612510
    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
    ABC28; HUSSY18; HUSSY-18; EST133090
    Summary
    This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Mar 2019]
    Expression
    Ubiquitous expression in testis (RPKM 10.6), brain (RPKM 8.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ABCF2 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (151211484..151227205, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150908570..150924291, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene IQ motif containing with AAA domain 1 like Neighboring gene ABCF2-H2BE1 readthrough Neighboring gene H2B.E variant histone 1 Neighboring gene chondroitin polymerizing factor 2 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 Neighboring gene microRNA 671

    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 meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    GeneReviews: Not available
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp586K1823

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    ATP-binding cassette sub-family F member 2
    Names
    ABC-type transport protein
    ATP-binding cassette, sub-family F (GCN20), member 2
    iron-inhibited ABC transporter 2

    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.

    mRNA and Protein(s)

    1. NM_007189.3NP_009120.1  ATP-binding cassette sub-family F member 2

      See identical proteins and their annotated locations for NP_009120.1

      Status: REVIEWED

      Source sequence(s)
      AC021097, BC001661, BG720644, HY165500
      Consensus CDS
      CCDS5923.1
      UniProtKB/Swiss-Prot
      Q9UG63
      UniProtKB/TrEMBL
      A0A090N7X1
      Related
      ENSP00000287844.2, ENST00000287844.7
      Conserved Domains (1) summary
      COG0488
      Location:83603
      Uup; ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]

    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_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      151211484..151227205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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