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

Gene ID: 10061, updated on 8-Jul-2018
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 Ensembl:ENSG00000285292 MIM:612510; Vega:OTTHUMG00000154570
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. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in testis (RPKM 10.6), brain (RPKM 8.3) and 25 other tissues See more
Orthologs
See ABCF2 in Genome Data Viewer
Location:
7q36.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (151207837..151227374, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150904923..150924460, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SOCS box containing 10 Neighboring gene IQ motif containing with AAA domain 1 like 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

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp586K1823

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
membrane HDA PubMed 
mitochondrial envelope TAS
Traceable Author Statement
more info
PubMed 
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

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_005692.4NP_005683.2  ATP-binding cassette sub-family F member 2 isoform b

    See identical proteins and their annotated locations for NP_005683.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (b) has a longer and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC021097, AL050291, BG720644, HY165500
    Consensus CDS
    CCDS5922.1
    UniProtKB/Swiss-Prot
    Q9UG63
    UniProtKB/TrEMBL
    A0A090N7Y2
    Related
    ENSP00000222388.2, OTTHUMP00000206141, ENST00000222388.6, OTTHUMT00000336088
    Conserved Domains (3) summary
    cd03221
    Location:86302
    ABCF_EF-3; ATP-binding cassette domain of elongation factor 3, subfamily F
    COG0488
    Location:83603
    Uup; ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]
    pfam12848
    Location:296366
    ABC_tran_Xtn; ABC transporter
  2. NM_007189.2NP_009120.1  ATP-binding cassette sub-family F member 2 isoform a

    See identical proteins and their annotated locations for NP_009120.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript variant but encodes the shorter isoform (a).
    Source sequence(s)
    AC021097, BC001661, BG720644, HY165500
    Consensus CDS
    CCDS5923.1
    UniProtKB/Swiss-Prot
    Q9UG63
    UniProtKB/TrEMBL
    A0A090N7X1
    Related
    ENSP00000287844.2, OTTHUMP00000206140, ENST00000287844.6, OTTHUMT00000336086
    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 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_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    151207837..151227374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011639.1XP_016867128.1  ATP-binding cassette sub-family F member 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9UG63
    UniProtKB/TrEMBL
    A0A090N7X1
    Conserved Domains (1) summary
    COG0488
    Location:83603
    Uup; ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]
  2. XM_017011640.1XP_016867129.1  ATP-binding cassette sub-family F member 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9UG63
    UniProtKB/TrEMBL
    A0A090N7X1
    Conserved Domains (1) summary
    COG0488
    Location:83603
    Uup; ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]
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