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FANCG FA complementation group G [ Homo sapiens (human) ]

Gene ID: 2189, updated on 20-Dec-2019

Summary

Official Symbol
FANCGprovided by HGNC
Official Full Name
FA complementation group Gprovided by HGNC
Primary source
HGNC:HGNC:3588
See related
Ensembl:ENSG00000221829 MIM:602956
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
FAG; XRCC9
Summary
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 5.8), testis (RPKM 5.2) and 25 other tissues See more
Orthologs

Genomic context

See FANCG in Genome Data Viewer
Location:
9p13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35073839..35079942, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35073833..35080043, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 338, pseudogene Neighboring gene valosin containing protein Neighboring gene phosphatidylinositol glycan anchor biosynthesis class O Neighboring gene stomatin like 2

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: VCP

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
damaged DNA binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
response to radiation IEA
Inferred from Electronic Annotation
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
Fanconi anemia group G protein
Names
DNA repair protein XRCC9
Fanconi anemia complementation group G
X-ray repair complementing defective repair in Chinese hamster cells 9
X-ray repair, complementing defective, in Chinese hamster, 9
truncated Fanconi anemia group G 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_007312.1 RefSeqGene

    Range
    5001..11179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_499

mRNA and Protein(s)

  1. NM_004629.2NP_004620.1  Fanconi anemia group G protein

    See identical proteins and their annotated locations for NP_004620.1

    Status: REVIEWED

    Source sequence(s)
    AJ007669
    Consensus CDS
    CCDS6574.1
    UniProtKB/Swiss-Prot
    O15287
    UniProtKB/TrEMBL
    Q53XM5
    Related
    ENSP00000367910.3, ENST00000378643.7
    Conserved Domains (1) summary
    sd00006
    Location:213237
    TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    35073839..35079942 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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