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AGFG2 ArfGAP with FG repeats 2 [ Homo sapiens (human) ]

Gene ID: 3268, updated on 3-Apr-2024

Summary

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Official Symbol
AGFG2provided by HGNC
Official Full Name
ArfGAP with FG repeats 2provided by HGNC
Primary source
HGNC:HGNC:5177
See related
Ensembl:ENSG00000106351 MIM:604019; AllianceGenome:HGNC:5177
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
HRBL; RABR
Summary
This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013]
Expression
Broad expression in salivary gland (RPKM 40.8), skin (RPKM 8.2) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100539203..100568220)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101779276..101808302)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100136826..100165843)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26370 Neighboring gene RNA, 7SL, cytoplasmic 416, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr7.3530 Neighboring gene NANOG hESC enhancer GRCh37_chr7:100136176-100136677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18443 Neighboring gene uncharacterized LOC124901708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100166771-100167442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100168785-100169455 Neighboring gene insulin receptor substrate 3, pseudogene Neighboring gene Sin3A associated protein 25

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. The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport. Doria M, et al. J Cell Biol, 1999 Dec 27. PMID 10613896, Free PMC Article
  2. A protein-binding domain, EH, identified in the receptor tyrosine kinase substrate Eps15 and conserved in evolution. Wong WT, et al. Proc Natl Acad Sci U S A, 1995 Oct 10. PMID 7568168, Free PMC Article
  3. Rev-ing up post-transcriptional HIV-1 RNA expression. Yedavalli VS, et al. RNA Biol, 2011 Mar-Apr. PMID 21358275, Free PMC Article
  4. Cellular proteins and HIV-1 Rev function. Suhasini M, et al. Curr HIV Res, 2009 Jan. PMID 19149558
  5. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. Glöckner G, et al. Genome Res, 1998 Oct. PMID 9799793, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies HRBL, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
Rev rev The proposed interaction of RAB-R with Rev is based on its similarity to HIV-1 Rev binding protein (hRip/RAB) PubMed
rev RAB-R is a proposed cellular cofactor for Rev function through a binding interaction with the Rev activation domain (amino acids 75-83) PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
arf-GAP domain and FG repeat-containing protein 2
Names
HIV-1 Rev-binding protein-like protein
Rev/Rex activation domain binding protein-related
arf-GAP domain and FG repeats-containing protein 2
nucleoporin
rev/Rex activation domain-binding protein related

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_006076.5 → NP_006067.3  arf-GAP domain and FG repeat-containing protein 2

    See identical proteins and their annotated locations for NP_006067.3

    Status: REVIEWED

    Source sequence(s)
    AC069281, AK090744, AK314954, BC017329, BC047227, BF310674
    Consensus CDS
    CCDS5697.1
    UniProtKB/Swiss-Prot
    O75429, O95081, Q96AB9, Q96GL4
    UniProtKB/TrEMBL
    A4D2D6
    Related
    ENSP00000300176.4, ENST00000300176.9
    Conserved Domains (1) summary
    cl02464
    Location:40 → 147
    ArfGap; Putative GTPase activating protein for Arf

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100539203..100568220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250306.3 → XP_005250363.1  arf-GAP domain and FG repeat-containing protein 2 isoform X1

    Conserved Domains (1) summary
    cl02464
    Location:40 → 147
    ArfGap; Putative GTPase activating protein for Arf

  2. XM_047420307.1 → XP_047276263.1  arf-GAP domain and FG repeat-containing protein 2 isoform X3

  3. XM_047420308.1 → XP_047276264.1  arf-GAP domain and FG repeat-containing protein 2 isoform X2

    Related
    ENSP00000388594.1, ENST00000429987.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101779276..101808302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358073.1 → XP_054214048.1  arf-GAP domain and FG repeat-containing protein 2 isoform X1

  2. XM_054358074.1 → XP_054214049.1  arf-GAP domain and FG repeat-containing protein 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95081.2 GenPept UniProtKB/Swiss-Prot:O95081

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