Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2189
Gene name	FA complementation group G
Gene symbol	FANCG
Synonyms (NCBI Gene)	FAGXRCC9
Chromosome	9
Chromosome location	9p13.3
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 FAN

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434425	C>A	Pathogenic	Coding sequence variant, stop gained
rs121434426	G>A	Pathogenic	Coding sequence variant, stop gained
rs149616199	C>A,G	Pathogenic	Splice donor variant
rs200479612	C>G,T	Pathogenic	Splice donor variant
rs397507559	AAACACCTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397507561	T>C	Pathogenic	Splice acceptor variant
rs587776640	GGTAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs753485145	C>-	Pathogenic	Coding sequence variant, stop gained
rs757418016	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs758423821	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs759590778	T>A	Pathogenic	Splice acceptor variant
rs767518932	C>G,T	Likely-pathogenic	Splice acceptor variant
rs769547477	T>C	Pathogenic	Splice acceptor variant
rs863224506	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886063898	->A	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs1060501862	C>T	Likely-pathogenic	Splice donor variant
rs1209807088	G>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006898	hsa-miR-23a-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern blot	21750350
MIRT016405	hsa-miR-193b-3p	Microarray	20304954
MIRT037687	hsa-miR-744-5p	CLASH	23622248
MIRT989177	hsa-miR-1238	CLIP-seq
MIRT989178	hsa-miR-18a	CLIP-seq
MIRT989179	hsa-miR-18b	CLIP-seq
MIRT989180	hsa-miR-3148	CLIP-seq
MIRT989181	hsa-miR-323-5p	CLIP-seq
MIRT989182	hsa-miR-4428	CLIP-seq
MIRT989183	hsa-miR-4445	CLIP-seq
MIRT989184	hsa-miR-4691-5p	CLIP-seq
MIRT989185	hsa-miR-4735-3p	CLIP-seq
MIRT989186	hsa-miR-4756-3p	CLIP-seq
MIRT989187	hsa-miR-876-3p	CLIP-seq
MIRT1993110	hsa-miR-4790-3p	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0001541	Process	Ovarian follicle development	IEA
GO:0003684	Function	Damaged DNA binding	TAS	9806548
GO:0005515	Function	Protein binding	IPI	10627486, 10652215, 11063725, 12649160, 16189514, 17060495, 17289582, 17396147, 19102630, 22458338, 28514442, 31467278, 32296183, 32814053, 33961781, 37398436
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	17060495
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9256465
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007005	Process	Mitochondrion organization	IMP	17060495
GO:0007286	Process	Spermatid development	IEA
GO:0009314	Process	Response to radiation	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22266823, 22343915, 22705371
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915

MIM	HGNC	e!Ensembl
602956	3588	ENSG00000221829

O15287

Protein name

Fanconi anemia group G protein (Protein FACG) (DNA repair protein XRCC9)

Protein function

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.

PDB

7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis and thymus. Found in lymphoblasts.

Sequence

MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGL
PAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRE
LWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLALLLETLNGSQSGASKDLLLL
LKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLC
PRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAEL
ESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRA
GDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEAAVALIQAGRAQDALTLCEEL
LSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCL
ELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLS
VQMCPGNRDTYFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWI
RPSDRDAFLEEFRTSLPKSCDL

Sequence length

622

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway

1216

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of blood and blood-forming tissues	Likely pathogenic	rs2131056701	RCV001814313
Carcinoma of pancreas	Likely pathogenic	rs2131056131	RCV001391221
FANCG-related disorder	Likely pathogenic; Pathogenic	rs768083289, rs149616199, rs397507560, rs2131055853, rs761519737	RCV003395526 RCV004748504 RCV003904814 RCV003416907 RCV004749616
Fanconi anemia	Likely pathogenic; Pathogenic	rs767443643, rs1829062071, rs2131056701, rs2131051951, rs2131053943, rs748730134, rs755363896, rs2131055360, rs149721361, rs2131056614, rs2131058481, rs2131058553, rs1829123346, rs886063896, rs2131053817 View all (106 more)	RCV001377115 RCV001379948 RCV001378690 RCV001385161 RCV001386446 RCV001389380 RCV001385294 RCV001388483 RCV001384029 RCV001390140 RCV001380474 RCV001382663 RCV001615379 RCV001615382 RCV001615383 RCV001615384 RCV001615385 RCV001615386 RCV001977918 RCV001931723 RCV002046098 RCV002037622 RCV001999871 RCV001994229 RCV001960341 RCV001900042 RCV001950952 RCV001908901 RCV001951931 RCV001946113 RCV002025750 RCV001867354 RCV001939595 RCV001939512 RCV001946802 RCV001972738 RCV001959202 RCV001949546 RCV003523119 RCV000168294 RCV003091226 RCV002620955 RCV003118941 RCV002601496 RCV002649954 RCV002828971 RCV002871965 RCV002872717 RCV002923306 RCV000198686 RCV002982995 RCV003026163 RCV003000166 RCV000706520 RCV001037690 RCV000791560 RCV000630837 RCV000700011 RCV001057950 RCV003039679 RCV003231003 RCV003523169 RCV005100161 RCV003523186 RCV005100162 RCV003779029 RCV003636028 RCV003636029 RCV003522390 RCV003523397 RCV003523464 RCV003523775 RCV003524536 RCV003523853 RCV003524618 RCV003524745 RCV003524850 RCV003636098 RCV003636389 RCV003637070 RCV003637177 RCV003637195 RCV003637341 RCV003637697 RCV003637789 RCV003635842 RCV003636497 RCV003636525 RCV003637407 RCV003875893 RCV003867603 RCV000814219 RCV004018235 RCV000461878 RCV000695845 RCV003522922 RCV000630841 RCV000692482 RCV000699360 RCV000696742 RCV001869034 RCV001067732 RCV000814599 RCV000798901 RCV000826141 RCV001049179 RCV001060677 RCV001064984 RCV002561027 RCV001863077 RCV005094038 RCV003635945 RCV001863075 RCV001379896 RCV001212916 RCV001381185 RCV002561026 RCV002258150 RCV002271629 RCV003396805 RCV001863074 RCV002560181 RCV003770190 RCV001863078 RCV001863076 RCV005208728 RCV001241021 RCV001246594
Fanconi anemia complementation group G	Likely pathogenic; Pathogenic	rs767443643, rs1829062071, rs2131051951, rs2131053943, rs755363896, rs149721361, rs1829085768, rs2131055994, rs1829091954, rs765150956, rs1224034435, rs770263417, rs587778345, rs2131055463, rs1412207017 View all (95 more)	RCV001831335 RCV003469643 RCV003463003 RCV001826168 RCV001826166 RCV003147631 RCV001580703 RCV001580704 RCV001783263 RCV001781088 RCV004571876 RCV003464290 RCV004567045 RCV004571580 RCV002250786 RCV003464187 RCV003464299 RCV003464318 RCV003464320 RCV002226565 RCV001194974 RCV003466013 RCV003464571 RCV003465859 RCV001194937 RCV003465884 RCV003459702 RCV000007104 RCV000007106 RCV000007107 RCV000007108 RCV000007109 RCV000007110 RCV000007111 RCV003158007 RCV003340808 RCV004572971 RCV003468152 RCV003468153 RCV003461490 RCV003468154 RCV003461491 RCV003461492 RCV003461493 RCV003461494 RCV003461495 RCV003468155 RCV003468156 RCV003461496 RCV003461497 RCV003468157 RCV003468158 RCV003468159 RCV003461498 RCV003461499 RCV003468160 RCV003468161 RCV003461500 RCV003461501 RCV003461502 RCV003461503 RCV003461504 RCV003461505 RCV005356466 RCV005047709 RCV005051354 RCV004574323 RCV000363591 RCV004576573 RCV004576574 RCV004576576 RCV004576577 RCV004576578 RCV004576579 RCV000760153 RCV000034123 RCV004568369 RCV001194955 RCV001194951 RCV001194971 RCV000760154 RCV000761291 RCV003145178 RCV003467527 RCV001194978 RCV001194976 RCV001194977 RCV001194973 RCV001194972 RCV001194969 RCV001194967 RCV001194966 RCV001194964 RCV001194962 RCV001194959 RCV001194958 RCV001194956 RCV001194952 RCV001194950 RCV001194949 RCV001194948 RCV001194947 RCV001194944 RCV001194943 RCV001194940 RCV001194939 RCV001194938 RCV001194936 RCV001194935 RCV001194946 RCV001194979 RCV001194975 RCV001194968 RCV001194961 RCV001194953 RCV001194941 RCV002484358 RCV002484321
Lymphoma	Likely pathogenic; Pathogenic	rs755363896	RCV005912642
Monogenic short statue	Likely pathogenic; Pathogenic	rs149721361	RCV005865484
Ovarian cancer	Likely pathogenic	rs780502064, rs766086210	RCV003154731 RCV003154785
Pituitary stalk interruption syndrome	Likely pathogenic	rs1829129603	RCV001257285

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs17885376	RCV005918431
Cervical cancer	Benign	rs17885376, rs200107462	RCV005918433 RCV005926043
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs17885376	RCV005918436
Fanconi anemia complementation group A	Uncertain significance	rs765722724, rs372234656	RCV000988180 RCV000988181
Hepatocellular carcinoma	Uncertain significance	rs772460728	RCV005901238
Lung cancer	Benign	rs17885376	RCV005918434
Malignant tumor of esophagus	Benign	rs17885376	RCV005918432
Uterine corpus endometrial carcinoma	Benign	rs17885376	RCV005918435

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Stimulate	23752274
Anemia Aplastic	Associate	11110674
Anemia Hemolytic	Associate	11167740, 35052418, 36894310
Carcinoma Hepatocellular	Associate	29425759
Carcinoma Non Small Cell Lung	Associate	37924135
Carcinoma Pancreatic Ductal	Associate	27616351, 35111149
Chromosomal Instability	Associate	32989015
Chromosome Disorders	Associate	35052418
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	34285288
Developmental Disabilities	Associate	35052418
DNA Virus Infections	Associate	40076915
Endocrine System Diseases	Associate	32529760
Fanconi Anemia	Associate	10468606, 11001585, 11110674, 11438206, 11739169, 11750104, 12239156, 15082718, 15256425, 15299030, 15657175, 19405097, 29400309, 29891926, 29973652 View all (7 more)
Fatty Liver Alcoholic	Stimulate	29425759
Hepatitis Alcoholic	Associate	29425759
Hypogonadism	Associate	33270637
Neoplasms	Associate	10468606, 30942098, 34285288, 40076915
Ovarian Neoplasms	Associate	32762026, 40076915
Pancreatic Neoplasms	Associate	14726700, 15277238
Recombinant chromosome 8 syndrome	Associate	30293905
Squamous Cell Carcinoma of Head and Neck	Associate	34598035
Thyroiditis	Associate	32529760

FANCG (FA complementation group G)