MCID: FNC030
MIFTS: 29

Fanconi Anemia, Complementation Group G

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group G

MalaCards integrated aliases for Fanconi Anemia, Complementation Group G:

Name: Fanconi Anemia, Complementation Group G 53 28 13
Fanconi Anemia Complementation Group G 12 71 69
Fancg 53 12 71

Classifications:



Summaries for Fanconi Anemia, Complementation Group G

OMIM : 53 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (614082)

MalaCards based summary : Fanconi Anemia, Complementation Group G, also known as fanconi anemia complementation group g, is related to fanconi anemia, complementation group a and fanconi anemia, complementation group b, and has symptoms including microcephaly, microphthalmia and abnormality of the thumb. An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (Fanconi Anemia Complementation Group G). Affiliated tissues include bone and bone marrow.

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.

UniProtKB/Swiss-Prot : 71 Fanconi anemia complementation group G: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group G

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group G:



Diseases related to Fanconi Anemia, Complementation Group G

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group G

Clinical features from OMIM:

614082

Human phenotypes related to Fanconi Anemia, Complementation Group G:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 microphthalmia 31 very rare (1%) HP:0000568
3 abnormality of the thumb 31 HP:0001172
4 growth delay 31 very rare (1%) HP:0001510
5 thrombocytopenia 31 HP:0001873
6 neutropenia 31 HP:0001875
7 anemia 31 HP:0001903
8 leukemia 31 HP:0001909
9 myelodysplasia 31 HP:0002863
10 abnormality of chromosome stability 31 HP:0003220
11 multiple cafe-au-lait spots 31 HP:0007565

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group G

Genetic Tests for Fanconi Anemia, Complementation Group G

Genetic tests related to Fanconi Anemia, Complementation Group G:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group G 28 FANCG

Anatomical Context for Fanconi Anemia, Complementation Group G

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group G:

38
Bone, Bone Marrow

Publications for Fanconi Anemia, Complementation Group G

Articles related to Fanconi Anemia, Complementation Group G:

(show all 33)
# Title Authors Year
1
Characterization of two novel FANCG mutations in Indian Fanconi anemia patients. ( 28024295 )
2017
2
Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi anemia. ( 25477267 )
2015
3
Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant. ( 25703136 )
2015
4
K63-linked ubiquitination of FANCG is required for its association with the Rap80-BRCA1 complex to modulate homologous recombination repair of DNA interstand crosslinks. ( 25132264 )
2014
5
Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation. ( 24300640 )
2013
6
FANCA and FANCG are the major Fanconi anemia genes in the Korean population. ( 23067021 )
2013
7
Areca nut induces miR-23a and inhibits repair of DNA double-strand breaks by targeting FANCG. ( 21750350 )
2011
8
The Fanconi anemia protein, FANCG, binds to the ERCC1-XPF endonuclease via its tetratricopeptide repeats and the central domain of ERCC1. ( 20518486 )
2010
9
Several tetratricopeptide repeat (TPR) motifs of FANCG are required for assembly of the BRCA2/D1-D2-G-X3 complex, FANCD2 monoubiquitylation and phleomycin resistance. ( 20450923 )
2010
10
RAD51D- and FANCG-dependent base substitution mutagenesis at the ATP1A1 locus in mammalian cells. ( 19427512 )
2009
11
The SH3 domain of alphaII spectrin is a target for the Fanconi anemia protein, FANCG. ( 19102630 )
2009
12
FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3. ( 18212739 )
2008
13
Role of the Fancg gene in protecting cells from particulate chromate-induced chromosome instability. ( 17097336 )
2007
14
Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2. ( 16621732 )
2006
15
Four human FANCG polymorphic variants show normal biological function in hamster CHO cells. ( 17010390 )
2006
16
Phosphorylation of fanconi anemia (FA) complementation group G protein, FANCG, at serine 7 is important for function of the FA pathway. ( 15299017 )
2004
17
FANCG is phosphorylated at serines 383 and 387 during mitosis. ( 15367677 )
2004
18
The genetics of FANCC and FANCG in familial pancreatic cancer. ( 14726700 )
2004
19
Telomere dynamics in Fancg-deficient mouse and human cells. ( 15319283 )
2004
20
Multiple TPR motifs characterize the Fanconi anemia FANCG protein. ( 14697762 )
2004
21
Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1. ( 12915460 )
2003
22
Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells. ( 12861027 )
2003
23
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. ( 12552564 )
2003
24
The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage. ( 11756225 )
2002
25
Characterization, expression and complex formation of the murine Fanconi anaemia gene product Fancg. ( 11918676 )
2002
26
Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment. ( 11181053 )
2001
27
Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links. ( 11401546 )
2001
28
The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. ( 11063725 )
2000
29
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. ( 10807541 )
2000
30
The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex. ( 11050007 )
2000
31
Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system. ( 10627486 )
2000
32
Resistance to mitomycin C requires direct interaction between the Fanconi anemia proteins FANCA and FANCG in the nucleus through an arginine-rich domain. ( 10567393 )
1999
33
The Fanconi anaemia group G gene FANCG is identical with XRCC9. ( 9806548 )
1998

Variations for Fanconi Anemia, Complementation Group G

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group G:

71
# Symbol AA change Variation ID SNP ID
1 FANCG p.Leu71Pro VAR_017495

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group G:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCG NM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs) deletion Pathogenic rs397507559 GRCh37 Chromosome 9, 35075703: 35075712
2 FANCG NM_004629.1(FANCG): c.307+1G> C single nucleotide variant Pathogenic rs200479612 GRCh38 Chromosome 9, 35078604: 35078604
3 FANCG NM_004629.1(FANCG): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121434425 GRCh37 Chromosome 9, 35078335: 35078335
4 FANCG FANCG, IVS13, G-C, -1 single nucleotide variant Pathogenic
5 FANCG NM_004629.1(FANCG): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs121434426 GRCh37 Chromosome 9, 35076439: 35076439
6 FANCG NM_004629.1(FANCG): c.925-2A> G single nucleotide variant Pathogenic rs397507561 GRCh37 Chromosome 9, 35076582: 35076582
7 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh37 Chromosome 9, 35075275: 35075275
8 FANCG NM_004629.1(FANCG): c.1794_1803delCTGGATCCGT (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh37 Chromosome 9, 35074171: 35074180
9 FANCG NM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs) deletion Pathogenic rs587776640 GRCh37 Chromosome 9, 35077264: 35077270

Expression for Fanconi Anemia, Complementation Group G

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Pathways for Fanconi Anemia, Complementation Group G

GO Terms for Fanconi Anemia, Complementation Group G

Sources for Fanconi Anemia, Complementation Group G

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