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Aliases for FANCM Gene

Aliases for FANCM Gene

  • Fanconi Anemia Complementation Group M 2 3 5
  • KIAA1596 2 3 4
  • Fanconi Anemia-Associated Polypeptide Of 250 KDa 3 4
  • ATP-Dependent RNA Helicase FANCM 3 4
  • Protein Hef Ortholog 3 4
  • FAAP250 3 4
  • Fanconi Anemia Group M Protein 3
  • Protein FACM 4
  • EC 3.6.4.13 4
  • EC 3.6.1 58

External Ids for FANCM Gene

Previous HGNC Symbols for FANCM Gene

  • KIAA1596

Previous GeneCards Identifiers for FANCM Gene

  • GC14P044675
  • GC14P045605
  • GC14P025716

Summaries for FANCM Gene

Entrez Gene Summary for FANCM 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 FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for FANCM Gene

FANCM (Fanconi Anemia Complementation Group M) is a Protein Coding gene. Diseases associated with FANCM include Fanconi Anemia, Complementation Group A and Fancm-Related Fanconi Anemia. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. GO annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is DICER1.

UniProtKB/Swiss-Prot for FANCM Gene

  • 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 resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434).

Additional gene information for FANCM Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCM Gene

Genomics for FANCM Gene

Regulatory Elements for FANCM Gene

Enhancers for FANCM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H045133 1.1 ENCODE 28.2 -0.7 -722 3.5 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FANCM PRPF39 LINC02302 GC14M045133 SNORD127
GH14H045249 1.5 FANTOM5 ENCODE 13.9 +116.1 116097 6 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 PRPF39 MIS18BP1 FANCM KLHL28 C14orf28 GC14M044793
GH14H045138 0.4 FANTOM5 0.7 +2.5 2540 0.4 PRDM1 ENSG00000212615 PRPF39 LOC105370474 KLHL28 TOGARAM1 SNORD127 LINC02302 FANCM GC14M044793
GH14H045139 0.2 Ensembl 0.7 +3.0 2968 0.2 LOC105370474 PRPF39 ENSG00000212615 KLHL28 TOGARAM1 SNORD127 LINC02302 FANCM GC14M044793
GH14H045176 0.4 ENCODE 0.3 +41.2 41167 0.8 CEBPB EP300 GC14M044793 FANCM
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FANCM on UCSC Golden Path with GeneCards custom track

Promoters for FANCM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000067974 -333 4401 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Locations for FANCM Gene

Genomic Locations for FANCM Gene
chr14:45,135,933-45,200,890
(GRCh38/hg38)
Size:
64,958 bases
Orientation:
Plus strand
chr14:45,605,136-45,670,093
(GRCh37/hg19)

Genomic View for FANCM Gene

Genes around FANCM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANCM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCM Gene

Proteins for FANCM Gene

  • Protein details for FANCM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYD8-FANCM_HUMAN
    Recommended name:
    Fanconi anemia group M protein
    Protein Accession:
    Q8IYD8
    Secondary Accessions:
    • B2RTQ9
    • Q3YFH9
    • Q8N9X6
    • Q9HCH6

    Protein attributes for FANCM Gene

    Size:
    2048 amino acids
    Molecular mass:
    232191 Da
    Quaternary structure:
    • Component of the Fanconi anemia (FA) core complex, which consists of CENPS, CENPX, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FAAP24 and FAAP100 (PubMed:16116422, PubMed:16116434, PubMed:17289582). The FA core complex associates with Bloom syndrome (BLM) complex, which consists of at least BLM, DNA topoisomerase 3-alpha/TOP3A, RMI1/BLAP75, RPA1/RPA70 and RPA2/RPA32. This supercomplex between FA and BLM complexes has been called BRAFT (PubMed:20347428). Forms a discrete complex with CENPS and CENPX, called FANCM-MHF; this interaction stimulates DNA binding and replication fork remodeling by FANCM and stabilizes the binding partners (PubMed:20347428, PubMed:20347429). Forms a heterodimer with FAAP24; this interaction increases FANCM single-stranded DNA-binding activity (PubMed:17289582, PubMed:20347428).
    SequenceCaution:
    • Sequence=BAB13422.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FANCM Gene

    Alternative splice isoforms for FANCM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCM Gene

Selected DME Specific Peptides for FANCM Gene

Q8IYD8:
  • QRMGRTGRKR
  • IQILESF
  • APTKPLV

Post-translational modifications for FANCM Gene

  • Phosphorylated; hyperphosphorylated in response to genotoxic stress.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for FANCM Gene

Gene Families for FANCM Gene

Suggested Antigen Peptide Sequences for FANCM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYD8

UniProtKB/Swiss-Prot:

FANCM_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily.
genes like me logo Genes that share domains with FANCM: view

Function for FANCM Gene

Molecular function for FANCM Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot 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 resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434).

Enzyme Numbers (IUBMB) for FANCM Gene

Gene Ontology (GO) - Molecular Function for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 20347429
GO:0004386 helicase activity IEA --
GO:0004518 nuclease activity IEA --
GO:0005515 protein binding IPI 20347429
genes like me logo Genes that share ontologies with FANCM: view
genes like me logo Genes that share phenotypes with FANCM: view

Human Phenotype Ontology for FANCM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCM Gene

MGI Knock Outs for FANCM:

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for FANCM Gene

Localization for FANCM Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCM Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCM gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
GO:0071821 FANCM-MHF complex IDA 20347428
genes like me logo Genes that share ontologies with FANCM: view

Pathways & Interactions for FANCM Gene

genes like me logo Genes that share pathways with FANCM: view

Pathways by source for FANCM Gene

2 Reactome pathways for FANCM Gene
1 KEGG pathway for FANCM Gene

SIGNOR curated interactions for FANCM Gene

Activates:

Gene Ontology (GO) - Biological Process for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IMP 20347428
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0031297 replication fork processing IMP 20347428
GO:0036297 interstrand cross-link repair TAS --
genes like me logo Genes that share ontologies with FANCM: view

Drugs & Compounds for FANCM Gene

(3) Drugs for FANCM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Nutra Agonist 0

(1) Additional Compounds for FANCM Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with FANCM: view

Transcripts for FANCM Gene

Unigene Clusters for FANCM Gene

Fanconi anemia, complementation group M:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FANCM Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a ·
SP1: - -
SP2: - - -
SP3:
SP4:
SP5:

ExUns: 22b ^ 23a · 23b ^ 24a · 24b · 24c
SP1:
SP2:
SP3:
SP4:
SP5: -

Relevant External Links for FANCM Gene

GeneLoc Exon Structure for
FANCM
ECgene alternative splicing isoforms for
FANCM

Expression for FANCM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FANCM Gene

Protein differential expression in normal tissues from HIPED for FANCM Gene

This gene is overexpressed in Plasma (30.6), Liver, secretome (20.6), Lung (9.9), and Platelet (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FANCM Gene



Protein tissue co-expression partners for FANCM Gene

NURSA nuclear receptor signaling pathways regulating expression of FANCM Gene:

FANCM

SOURCE GeneReport for Unigene cluster for FANCM Gene:

Hs.509229

Evidence on tissue expression from TISSUES for FANCM Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCM: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FANCM Gene

Orthologs for FANCM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FANCM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANCM 33 34
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia FANCM 33 34
  • 87.38 (n)
cow
(Bos Taurus)
Mammalia FANCM 33 34
  • 84.38 (n)
-- 34
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fancm 16 34 33
  • 75.53 (n)
oppossum
(Monodelphis domestica)
Mammalia FANCM 34
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FANCM 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCM 34 33
  • 57.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCM 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancm 33
  • 58.32 (n)
Str.18400 33
zebrafish
(Danio rerio)
Actinopterygii FANCM (3 of 3) 34
  • 64 (a)
OneToMany
FANCM (2 of 3) 34
  • 52 (a)
OneToMany
fancm 34
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7922 34
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPH1 34 36
  • 25 (a)
OneToOne
Species where no ortholog for FANCM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCM Gene

ENSEMBL:
Gene Tree for FANCM (if available)
TreeFam:
Gene Tree for FANCM (if available)

Paralogs for FANCM Gene

Paralogs for FANCM Gene

genes like me logo Genes that share paralogs with FANCM: view

Variants for FANCM Gene

Sequence variations from dbSNP and Humsavar for FANCM Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs797045116 Likely pathogenic 45,159,190(+) TTTCA(-/A)CAGCA nc-transcript-variant, reference, frameshift-variant
rs116519044 Likely benign 45,176,617(+) TAAAA(A/G)TTTTA nc-transcript-variant, reference, missense
rs140998495 Likely benign 45,151,519(+) TCTCC(A/G)AATAT nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
rs148871932 Likely benign 45,175,503(+) ATGTT(A/G)TTAAA nc-transcript-variant, reference, missense
rs3736772 Likely benign 45,196,265(-) CTGCG(C/G/T)AAGTC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FANCM Gene

Variant ID Type Subtype PubMed ID
nsv832785 CNV loss 17160897
nsv1045297 CNV loss 25217958
esv3634343 CNV loss 21293372
esv2676798 CNV deletion 23128226
esv23137 CNV loss 19812545

Variation tolerance for FANCM Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.68; 97.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCM Gene

Human Gene Mutation Database (HGMD)
FANCM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCM Gene

Disorders for FANCM Gene

MalaCards: The human disease database

(5) MalaCards diseases for FANCM Gene - From: HGMD, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanconi's anemia
fancm-related fanconi anemia
bloom syndrome
  • bloom-torre-machacek syndrome
congenital hypoplastic anemia
  • congenital aplastic anemia
warsaw breakage syndrome
  • wabs
- elite association - COSMIC cancer census association via MalaCards
Search FANCM in MalaCards View complete list of genes associated with diseases

Relevant External Links for FANCM

Genetic Association Database (GAD)
FANCM
Human Genome Epidemiology (HuGE) Navigator
FANCM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCM
genes like me logo Genes that share disorders with FANCM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FANCM Gene

Publications for FANCM Gene

  1. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PMID: 16116422) Meetei AR … Wang W (Nature genetics 2005) 2 3 4 60
  2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  3. A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. (PMID: 20347428) Yan Z … Wang W (Molecular cell 2010) 3 4 60
  4. MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. (PMID: 20347429) Singh TR … Meetei AR (Molecular cell 2010) 3 4 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for FANCM Gene

Sources for FANCM Gene

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