Aliases for FANCM Gene
Aliases for FANCM Gene
External Ids for FANCM Gene
- HGNC: 23168
- Entrez Gene: 57697
- Ensembl: ENSG00000187790
- OMIM: 609644
- UniProtKB: Q8IYD8
Previous HGNC Symbols for FANCM Gene
- KIAA1596
Previous GeneCards Identifiers for FANCM Gene
- GC14P044675
- GC14P045605
- GC14P025716
Summaries 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.
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).
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 |
|---|---|---|---|---|---|---|---|---|
| GH14G045133 | 1.1 | ENCODE | 14.8 | -0.7 | -722 | 3.5 | PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 | FANCM GC14M045133 SNORD127 |
| GH14G045249 | 1.5 | FANTOM5 ENCODE | 1.7 | +116.1 | 116097 | 6.0 | PKNOX1 FOXA2 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 | MIS18BP1 C14orf28 FANCM PRPF39 KLHL28 GC14M044793 |
| GH14G045138 | 0.4 | FANTOM5 | 0.7 | +2.5 | 2540 | 0.4 | PRDM1 | LOC105370474 PRPF39 ENSG00000212615 KLHL28 TOGARAM1 SNORD127 FANCM GC14M044793 |
| GH14G045139 | 0.2 | Ensembl | 0.7 | +3.0 | 2968 | 0.2 | LOC105370474 PRPF39 ENSG00000212615 KLHL28 TOGARAM1 SNORD127 FANCM GC14M044793 | |
| GH14G045176 | 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
- Transcription factor binding sites by QIAGEN in the FANCM gene promoter:
Regulatory Element Products
Genomic Location for FANCM Gene
- Chromosome:
- 14
- Start:
- 45,135,933 bp from pter
- End:
- 45,200,890 bp from pter
- Size:
- 64,958 bases
- Orientation:
- Plus strand
Genomic View for FANCM Gene
Genes around FANCM on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q21.2 by Ensembl
- 14q21.2 by Entrez Gene
- 14q21.2 by HGNC
FANCM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for FANCM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FANCM
- Invitrogen Antibodies for FANCM
- antibodies-online Antibodies for FANCM: See all 37
- Search GeneTex for Antibodies for FANCM
-
Santa Cruz Biotechnology (SCBT) Antibodies for FANCM
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FANCM
- Origene Custom Protein Services for FANCM
- Search GeneTex for Proteins for FANCM
Assay Products
- antibodies-online Kits for FANCM: See all 2
Domains & Families for FANCM Gene
Gene Families for FANCM Gene
Protein Domains for FANCM Gene
Suggested Antigen Peptide Sequences for FANCM Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IYD8UniProtKB/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.
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
| 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 |
Phenotypes for FANCM Gene
- MGI mutant phenotypes for FANCM:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FANCM:
Animal Models for FANCM Gene
- MGI Knock Outs for FANCM:
-
- Fancm tm1.1Htr
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FANCM
-
-
ViGene Biosciences lentiviral particle packaged cDNA for FANCM gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCM gene
- Search ViGene Biosciences for FANCM
CRISPR Products
-
OriGene CRISPR knockouts for FANCM
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCM
- GenScript: Design CRISPR guide RNA sequences for FANCM
miRNA for FANCM Gene
- miRTarBase miRNAs that target FANCM
-
- hsa-mir-193b-3p (MIRT016474)
- hsa-mir-192-5p (MIRT026567)
- hsa-mir-519c-3p (MIRT070050)
- hsa-mir-519b-3p (MIRT070051)
- hsa-mir-519a-3p (MIRT070052)
- hsa-mir-573 (MIRT070054)
- hsa-mir-580-5p (MIRT070055)
- hsa-mir-889-3p (MIRT070058)
- hsa-mir-3120-3p (MIRT070060)
- hsa-mir-3616-5p (MIRT070062)
- hsa-mir-3908 (MIRT070064)
- hsa-mir-4795-5p (MIRT551966)
- hsa-mir-4803 (MIRT551967)
- hsa-mir-6772-3p (MIRT695948)
- hsa-mir-4268 (MIRT695949)
- hsa-mir-4448 (MIRT695950)
- hsa-mir-1976 (MIRT695951)
- hsa-mir-6747-3p (MIRT695952)
- hsa-mir-6727-3p (MIRT695953)
- hsa-mir-4722-3p (MIRT695954)
- hsa-mir-4532 (MIRT695955)
- hsa-mir-1247-3p (MIRT695956)
- hsa-mir-122-3p (MIRT695957)
miRNA Products
- Search ViGene Biosciences for FANCM
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FANCM
- Browse OriGene Inhibitory RNA Products For FANCM
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCM gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FANCM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FANCM
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for FANCM gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FANCM gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCM gene
No data available for Transcription Factor Targets and HOMER Transcription for FANCM Gene
Localization for FANCM Gene
Subcellular locations from UniProtKB/Swiss-Prot for FANCM Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| mitochondrion | 1 |
| 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 |
Pathways & Interactions for FANCM Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for FANCM Gene
2 Reactome pathways for FANCM Gene
1 KEGG pathway for FANCM Gene
Interacting Proteins for FANCM Gene
Selected Interacting proteins:
ENSP00000267430
Q8IYD8-FANCM_HUMAN
for FANCM Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000712 | resolution of meiotic recombination intermediates | IMP | 20347428 |
| GO:0006259 | DNA metabolic process | IEA | -- |
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0031297 | replication fork processing | IMP | 20347428 |
Drugs & Compounds for FANCM Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
Transcripts for FANCM Gene
mRNA/cDNA for FANCM Gene
- (11) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (49) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FANCM Gene
CRISPR Products
-
OriGene CRISPR knockouts for FANCM
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCM
- GenScript: Design CRISPR guide RNA sequences for FANCM
miRNA Products
- Search ViGene Biosciences for FANCM
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FANCM
- Browse OriGene Inhibitory RNA Products For FANCM
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCM gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FANCM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FANCM
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: | - |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of FANCM Gene:
FANCMSOURCE GeneReport for Unigene cluster for FANCM Gene:
Hs.509229Evidence 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
Primer Products
-
OriGene qPCR primer pairs for FANCM
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FANCM 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FANCM 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FANCM 34 35 |
|
||
| -- 35 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Fancm 16 35 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FANCM 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FANCM 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FANCM 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FANCM 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fancm 34 |
|
||
| Str.18400 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | FANCM (3 of 3) 35 |
|
OneToMany | |
| FANCM (2 of 3) 35 |
|
OneToMany | |||
| fancm 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7922 35 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MPH1 35 37 |
|
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)
Paralogs for FANCM Gene
No data available for Paralogs for FANCM Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv23137 | CNV | loss | 19812545 |
| esv2676798 | CNV | deletion | 23128226 |
| esv3634343 | CNV | loss | 21293372 |
| nsv1045297 | CNV | loss | 25217958 |
| nsv832785 | CNV | loss | 17160897 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCM Gene
Disorders for FANCM Gene
(5) MalaCards diseases for FANCM Gene - From: ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group a |
|
|
| fancm-related fanconi anemia |
|
|
| esophageal atresia/tracheoesophageal fistula |
|
|
| congenital hypoplastic anemia |
|
|
| bloom syndrome |
|
|
Search FANCM in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FANCM
No data available for UniProtKB/Swiss-Prot and Genatlas for FANCM Gene
Publications for FANCM Gene
- A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PMID: 16116422) Meetei A.R. … Wang W. (Nat. Genet. 2005) 2 3 4 64
- 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 Res. 2000) 2 3 4 64
- A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. (PMID: 20347428) Yan Z. … Wang W. (Mol. Cell 2010) 3 4 64
- 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
- MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. (PMID: 20347429) Singh T.R. … Meetei A.R. (Mol. Cell 2010) 3 4 64
Products for FANCM Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FANCM
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- GenScript: Next-day shipping cDNA ORF clone for FANCM in any vector
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for FANCM
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online Antibodies for FANCM: See all 37
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- ViGene Biosciences adenoviral particle packaged cDNA for FANCM gene
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- Search ViGene Biosciences for FANCM
- Santa Cruz Biotechnology (SCBT) Antibodies for FANCM
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- Santa Cruz Biotechnology (SCBT) CRISPR for FANCM
- Cyagen custom Knockout/knockin (KOKI) mouse models for FANCM
- VectorBuilder custom plasmid, inducible vectors for FANCM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FANCM
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FANCM Gene
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- (40) Pseudogene
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
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- (77) Proteopedia
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- (80) neXtProt
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- (82) GeneGo (Thomson Reuters)
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- (155) Gene ORGANizer