Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57697
Gene name Gene Name - the full gene name approved by the HGNC.
FA complementation group M
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FANCM
Synonyms (NCBI Gene) Gene synonyms aliases
FAAP250, KIAA1596, POF15, SPGF28
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q21.2
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.
SNP ID Visualize variation Clinical significance Consequence
rs61753893 A>G Conflicting-interpretations-of-pathogenicity, benign Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs142864437 A>C,G Uncertain-significance, conflicting-interpretations-of-pathogenicity Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs144215747 C>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs144567652 C>A,T Uncertain-significance, pathogenic Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant
rs146897650 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016474 hsa-miR-193b-3p Microarray 20304954
MIRT026567 hsa-miR-192-5p Microarray 19074876
MIRT695957 hsa-miR-122-3p HITS-CLIP 23313552
MIRT695956 hsa-miR-1247-3p HITS-CLIP 23313552
MIRT695955 hsa-miR-4532 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000400 Function Four-way junction DNA binding IBA
GO:0000712 Process Resolution of meiotic recombination intermediates IMP 20347428
GO:0000785 Component Chromatin IDA 20347429
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609644 23168 ENSG00000187790
Protein
UniProt ID Q8IYD8
Protein name Fanconi anemia group M protein (Protein FACM) (EC 3.6.4.13) (ATP-dependent RNA helicase FANCM) (Fanconi anemia-associated polypeptide of 250 kDa) (FAAP250) (Protein Hef ortholog)
Protein function DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resista
PDB 4BXO , 4DAY , 4DRB , 4E45 , 4M6W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04851 ResIII 88 250 Type III restriction enzyme, res subunit Family
PF00271 Helicase_C 456 581 Helicase conserved C-terminal domain Family
PF16783 FANCM-MHF_bd 675 790 FANCM to MHF binding domain Domain
PF02732 ERCC4 1826 1948 ERCC4 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last tr
Sequence
MSGRQRTLFQTWGSSISRSSGTPGCSSGTERPQSPGSSKAPLPAAAEAQLESDDDVLLVA
AYEAERQLCLENGGFCTSAGALWIYPTNCPVRDYQLHISRAALFCNTLVCLPTGLGKTFI
AAVVMYNFYRWFPSGKVVFMAPTKPLVTQQIEACYQVMGIPQSHMAEMTGSTQASTRKEI
WCSKRVLFLTPQVMVNDLSRGACPAAEIKCLVIDEAHKALGNYAYCQVVRELVKYTNHFR
ILALSATPGS
DIKAVQQVITNLLIGQIELRSEDSPDILTYSHERKVEKLIVPLGEELAAI
QKTYIQILESFARSLIQRNVLMRRDIPNLTKYQIILARDQFRKNPSPNIVGIQQGIIEGE
FAICISLYHGYELLQQMGMRSLYFFLCGIMDGTKGMTRSKNELGRNEDFMKLYNHLECMF
ARTRSTSANGISAIQQGDKNKKFVYSHPKLKKLEEVVIEHFKSWNAENTTEKKRDETRVM
IFSSFRDSVQEIAEMLSQHQPIIRVMTFVGHASGKSTKGFTQKEQLEVVKQFRDGGYNTL
VSTCVGEEGLDIGEVDLIICFDSQKSPIRLVQRMGRTGRKR
QGRIVIILSEGREERIYNQ
SQSNKRSIYKAISSNRQVLHFYQRSPRMVPDGINPKLHKMFITHGVYEPEKPSRNLQRKS
SIFSYRDGMRQSSLKKDWFLSEEEFKLWNRLYRLRDSDEIKEITLPQVQFSSLQNEENKP
AQESTTGIHQLSLSEWRLWQDHPLPTHQVDHSDRCRHFIGLMQMIEGMRHEEGECSYELE
VESYLQMEDV
TSTFIAPRNESNNLASDTFITHKKSSFIKNINQGSSSSVIESDEECAEIV
KQTHIKPTKIVSLKKKVSKEIKKDQLKKENNHGIIDSVDNDRNSTVENIFQEDLPNDKRT
SDTDEIAATCTINENVIKEPCVLLTECQFTNKSTSSLAGNVLDSGYNSFNDEKSVSSNLF
LPFEEELYIVRTDDQFYNCHSLTKEVLANVERFLSYSPPPLSGLSDLEYEIAKGTALENL
LFLPCAEHLRSDKCTCLLSHSAVNSQQNLELNSLKCINYPSEKSCLYDIPNDNISDEPSL
CDCDVHKHNQNENLVPNNRVQIHRSPAQNLVGENNHDVDNSDLPVLSTDQDESLLLFEDV
NTEFDDVSLSPLNSKSESLPVSDKTAISETPLVSQFLISDELLLDNNSELQDQITRDANS
FKSRDQRGVQEEKVKNHEDIFDCSRDLFSVTFDLGFCSPDSDDEILEHTSDSNRPLDDLY
GRYLEIKEISDANYVSNQALIPRDHSKNFTSGTVIIPSNEDMQNPNYVHLPLSAAKNEEL
LSPGYSQFSLPVQKKVMSTPLSKSNTLNSFSKIRKEILKTPDSSKEKVNLQRFKEALNST
FDYSEFSLEKSKSSGPMYLHKSCHSVEDGQLLTSNESEDDEIFRRKVKRAKGNVLNSPED
QKNSEVDSPLHAVKKRRFPINRSELSSSDESENFPKPCSQLEDFKVCNGNARRGIKVPKR
QSHLKHVARKFLDDEAELSEEDAEYVSSDENDESENEQDSSLLDFLNDETQLSQAINDSE
MRAIYMKSLRSPMMNNKYKMIHKTHKNINIFSQIPEQDETYLEDSFCVDEEESCKGQSSE
EEVCVDFNLITDDCFANSKKYKTRRAVMLKEMMEQNCAHSKKKLSRIILPDDSSEEENNV
NDKRESNIAVNPSTVKKNKQQDHCLNSVPSGSSAQSKVRSTPRVNPLAKQSKQTSLNLKD
TISEVSDFKPQNHNEVQSTTPPFTTVDSQKDCRKFPVPQKDGSALEDSSTSGASCSKSRP
HLAGTHTSLRLPQEGKGTCILVGGHEITSGLEVISSLRAIHGLQVEVCPLNGCDYIVSNR
MVVERRSQSEMLNSVNKNKFIEQIQHLQSMFERICVIVEKDREKTGDTSRMFRRTKSYDS
LLTTLIGAGIRILFSSCQEETADLLKEL
SLVEQRKNVGIHVPTVVNSNKSEALQFYLSIP
NISYITALNMCHQFSSVKRMANSSLQEISMYAQVTHQKAEEIYRYIHYVFDIQMLPNDLN
QDRLKSDI
Sequence length 2048
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fanconi anemia pathway   Fanconi Anemia Pathway
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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 A rs1566766719, rs1383262366, rs768006618, rs765686151, rs147021911, rs1888605629, rs778744393, rs368728266, rs1888681090, rs1594810556, rs1888718087, rs754297345, rs757391108, rs1166587869, rs1566790465
View all (16 more)
N/A
Premature Ovarian Failure premature ovarian failure 15 rs144567652, rs147021911 N/A
Spermatogenic Failure spermatogenic failure 28 rs768006618, rs1555365959, rs368728266, rs1555363275, rs797045116, rs144567652 N/A
Azoospermia azoospermia rs144567652 N/A
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
Aplastic anemia aplastic anemia N/A N/A ClinVar
Breast Cancer breast cancer N/A N/A GenCC
Glioblastoma Glioblastoma N/A N/A GWAS
Hepatoblastoma hepatoblastoma N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 39519399
Alternating hemiplegia of childhood Inhibit 31138797
Anemia Hemolytic Associate 20160754, 22510687
Azoospermia Associate 35172124
Azoospermia Nonobstructive Associate 36017582
Bloom Syndrome Associate 20064455, 22392978
Bone Marrow Failure Disorders Associate 37450374
Breast Neoplasms Associate 25288723, 26130695, 27542569, 28033443, 28591191, 28702895, 28837162, 29231814, 29351780, 33118316, 34282249, 35353237, 36315097, 36835452
Burkitt Lymphoma Associate 30779244
Carcinoma Pancreatic Ductal Associate 32113160