FANCG (FA complementation group G)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2189
Gene name Gene Name - the full gene name approved by the HGNC.
FA complementation group G
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FANCG
Synonyms (NCBI Gene) Gene synonyms aliases
FAG, XRCC9
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
miRTarBase ID miRNA Experiments Reference
MIRT006898 hsa-miR-23a-3p Immunoblot, Luciferase reporter assay, qRT-PCR, Western 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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602956 3588 ENSG00000221829
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Fanconi anemia pathway   Fanconi Anemia Pathway
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fanconi Anemia fanconi anemia, fanconi anemia complementation group g rs786204205, rs1563986439, rs759590778, rs397507561, rs149616199, rs863224506, rs1209807088, rs867467817, rs1829091761, rs397507560, rs886063898, rs779834525, rs1491369358, rs121434425, rs587776640
View all (10 more)		 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
ovarian cancer Ovarian cancer N/A N/A ClinVar
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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