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

Gene ID: 10061, updated on 8-Jan-2023

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; AllianceGenome:HGNC:71
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
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151211484..151227205, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152384598..152400321, complement)
105.20220307 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-H2BK1 readthrough Neighboring gene H2B.K variant histone 1 Neighboring gene uncharacterized LOC124901779 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

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Pathways from PubChem

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 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
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
    Q96TE8, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    152384598..152400321 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)