FANCG
MCID: FNC030
MIFTS: 37

Fanconi Anemia, Complementation Group G (FANCG)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group G

MalaCards integrated aliases for Fanconi Anemia, Complementation Group G:

Name: Fanconi Anemia, Complementation Group G 57 29 13 6 40
Fanconi Anemia Complementation Group G 12 75 15 73
Fancg 57 12 75

Classifications:



Summaries for Fanconi Anemia, Complementation Group G

OMIM : 57 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 e. An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (FA Complementation Group G), and among its related pathways/superpathways are Regulation of TP53 Activity and DNA Double-Strand Break Repair. Affiliated tissues include bone and bone marrow, and related phenotypes are microcephaly and anemia

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 : 75 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 anemia 32 HP:0001903
3 myelodysplasia 32 HP:0002863
4 abnormality of the thumb 32 HP:0001172
5 growth delay 32 very rare (1%) HP:0001510
6 thrombocytopenia 32 HP:0001873
7 microphthalmia 32 very rare (1%) HP:0000568
8 abnormality of chromosome stability 32 HP:0003220
9 multiple cafe-au-lait spots 32 HP:0007565
10 neutropenia 32 HP:0001875
11 leukemia 32 HP:0001909

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group G according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.55 CHEK1
2 Decreased substrate adherent cell growth GR00193-A-2 9.55 CHEK1
3 Decreased substrate adherent cell growth GR00193-A-3 9.55 CHEK1 CHEK2
4 Decreased substrate adherent cell growth GR00193-A-4 9.55 CHEK2
5 Decreased telomerase activity GR00156-A 8.96 CHEK1 CHEK2
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 CHEK1 CHEK2 FANCG

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 29 FANCG

Anatomical Context for Fanconi Anemia, Complementation Group G

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

41
Bone, Bone Marrow

Publications for Fanconi Anemia, Complementation Group G

Variations for Fanconi Anemia, Complementation Group G

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

75
# Symbol AA change Variation ID SNP ID
1 FANCG p.Leu71Pro VAR_017495

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

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCG NM_004629.1(FANCG): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121434425 GRCh37 Chromosome 9, 35078335: 35078335
2 FANCG NM_004629.1(FANCG): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121434425 GRCh38 Chromosome 9, 35078338: 35078338
3 FANCG FANCG, IVS13, G-C, -1 single nucleotide variant Pathogenic
4 FANCG NM_004629.1(FANCG): c.307+1G> C single nucleotide variant Pathogenic rs200479612 GRCh37 Chromosome 9, 35078601: 35078601
5 FANCG NM_004629.1(FANCG): c.307+1G> C single nucleotide variant Pathogenic rs200479612 GRCh38 Chromosome 9, 35078604: 35078604
6 FANCG NM_004629.1(FANCG): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs121434426 GRCh37 Chromosome 9, 35076439: 35076439
7 FANCG NM_004629.1(FANCG): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs121434426 GRCh38 Chromosome 9, 35076442: 35076442
8 FANCG NM_004629.1(FANCG): c.925-2A> G single nucleotide variant Pathogenic rs397507561 GRCh37 Chromosome 9, 35076582: 35076582
9 FANCG NM_004629.1(FANCG): c.925-2A> G single nucleotide variant Pathogenic rs397507561 GRCh38 Chromosome 9, 35076585: 35076585
10 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh37 Chromosome 9, 35075275: 35075275
11 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh38 Chromosome 9, 35075278: 35075278
12 FANCG NM_004629.1(FANCG): c.1795_1804del (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh37 Chromosome 9, 35074171: 35074180
13 FANCG NM_004629.1(FANCG): c.1795_1804del (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh38 Chromosome 9, 35074174: 35074183
14 FANCG NM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs) deletion Pathogenic rs587776640 GRCh37 Chromosome 9, 35077264: 35077270
15 FANCG NM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs) deletion Pathogenic rs587776640 GRCh38 Chromosome 9, 35077267: 35077273
16 FANCG NM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs) deletion Pathogenic rs397507559 GRCh37 Chromosome 9, 35075703: 35075712
17 FANCG NM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs) deletion Pathogenic rs397507559 GRCh38 Chromosome 9, 35075706: 35075715

Expression for Fanconi Anemia, Complementation Group G

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group G.

Pathways for Fanconi Anemia, Complementation Group G

Pathways related to Fanconi Anemia, Complementation Group G according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 ATRIP CHEK1 CHEK2
2
Show member pathways
12.56 ATRIP CHEK1 CHEK2 FANCG VCP
3
Show member pathways
12.23 ATRIP CHEK1 CHEK2 FANCG
4
Show member pathways
12.18 ATRIP CHEK1 CHEK2
5
Show member pathways
11.91 ATRIP CHEK1 CHEK2
6
Show member pathways
11.87 CHEK1 CHEK2
7
Show member pathways
11.84 CHEK1 CHEK2
8 11.79 CHEK1 CHEK2
9 11.76 CHEK1 CHEK2
10 11.73 ATRIP CHEK1 CHEK2 VCP
11 11.53 ATRIP FANCG
12 11.49 CHEK1 FANCG
13
Show member pathways
11.48 CHEK1 CHEK2
14
Show member pathways
11.35 CHEK1 CHEK2 FANCG
15 11.34 CHEK1 CHEK2
16 11.28 CHEK1 CHEK2
17 11.16 CHEK1 CHEK2
18 11.14 CHEK1 CHEK2
19
Show member pathways
11.11 CHEK1 CHEK2
20 10.77 CHEK1 CHEK2
21 10.44 ATRIP CHEK1 CHEK2

GO Terms for Fanconi Anemia, Complementation Group G

Cellular components related to Fanconi Anemia, Complementation Group G according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.02 ATRIP CHEK1 CHEK2 FANCG VCP
2 chromosome, telomeric region GO:0000781 8.96 CHEK1 CHEK2

Biological processes related to Fanconi Anemia, Complementation Group G according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.48 ATRIP CHEK1
2 G2/M transition of mitotic cell cycle GO:0000086 9.46 CHEK1 CHEK2
3 regulation of signal transduction by p53 class mediator GO:1901796 9.43 CHEK1 CHEK2
4 double-strand break repair GO:0006302 9.4 CHEK2 VCP
5 interstrand cross-link repair GO:0036297 9.37 ATRIP FANCG
6 cellular response to DNA damage stimulus GO:0006974 9.35 ATRIP CHEK1 CHEK2 FANCG VCP
7 DNA damage checkpoint GO:0000077 9.33 ATRIP CHEK1 CHEK2
8 replicative senescence GO:0090399 9.32 CHEK1 CHEK2
9 DNA damage induced protein phosphorylation GO:0006975 9.26 CHEK1 CHEK2
10 DNA repair GO:0006281 9.02 ATRIP CHEK1 CHEK2 FANCG VCP

Sources for Fanconi Anemia, Complementation Group G

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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