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FLASH GENE

Symbol

FANCG

contributors: mct - updated : 13-02-2011

HGNC name	Fanconi anemia, complementation group G
HGNC id	3588

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	6.18 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D9S1817 - D9S1805 - FANCG FANCG - D9S1804 - D9S1794 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004629 14 - 2649 NP_004620 68.6 622 - -

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus       highly Reproductive female system ovary     highly   female system uterus cervix   highly   male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Lymphoid

cell lineage	lymphoblasts
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal two-thirds of FANCG binds to the N terminal NLS of FANCA
	two putative leucine zipper domains at the N terminus
	a motif that interacts directly with the SH3 domain of SPTAN1
	seven tetratricopeptide repeat motifs

conjugated

PhosphoP

mono polymer

complex

HOMOLOGY

interspecies	ortholog to Fancg, Mus musculus
	ortholog to fancg, Danio rerio
	ortholog to Fancg, Rattus norvegicus
	ortholog to FANCG, Pan troglodytes

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,chromatin/chromosome
text	found in mitochondria

basic FUNCTION	putatively involved in DNA-post replication repair or cell cycle checkpoint control
	may have a role in protection against oxidative DNA damage
	protection of the genomic integrity of cells and maintenance of normal chromosome stability
	required to prevent accumulation of replication-associated DNA double-strand breaks
	Fanconi anemia proteins, including FANCG are functionally involved in several complex cellular pathways including transcription regulation, cell signaling, oxidative metabolism, and cellular transport
	predicted to play a key role in the assembly and/or stabilization of the nuclear FA protein core complex
	phosphorylation of serine 7 in FANCG is functionally important in the FA pathway
	may have a role independent of the FA core complex
	a critical role in neural stem and progenitor cells during developmental and adult neurogenesis
	promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3

CELLULAR PROCESS	cell cycle
	nucleotide, repair
	nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

development , neurogenesis

text	cell cycle control

PATHWAY

metabolism

signaling

chromosome instability pathway

a component	component of a nuclear complex with FANCA, FANCC, FANCF
	member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCC, FANCE, FANCF, FANCM, FANCL

INTERACTION

DNA	DNA containing psoralen interstrand cross-links

RNA

small molecule

protein	cytochrome P450, family 2, subfamily E, polypeptide 1, CYP2E1
	breast cancer 2, early onset, BRCA2 and Fanconi anemia, complementation group D1, FANCD1
	FANCA, FANCC, FANCF and FANCE
	Protein kinase regulated by RNA, PKR
	mitochondrial peroxidase peroxiredoxin-3, PRDX3
	X-ray repair complementing defective repair in Chinese hamster cells 3, XRCC3
	hairy enhancer of split 1, HES1
	binding of FANCG to SPTAN1 may be important for the stability of SPTAN1 in cells and the role SPTAN1 plays in the DNA repair process
	ERCC1-XPF endonuclease

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FANCG

related resource

Fanconi Anaemia Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Fancg(-/-) mice have normal viability and no gross developmental abnormalities but their primary splenic lymphocytes, bone marrow progenitor cells, and fibroblasts display spontaneous chromosome breakage and increased sensitivity to mitomycin C and ionizing radiation. Fancg(-/-) mice have decreased fertility and abnormal gonadal histology
	Fancg/Xrcc9 null mice show showed hypogonadism and impaired fertility and hypersensitivity to mitomycin C
	fancg(-/-) mice presented with microcephalies and a decreased neuronal production in developing cortex and adult brain