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Aliases & Descriptions for FANCM
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.6.1.- 3 | | FAAP250 2, 3 | | KIAA1596 1, 2, 3, 5 | | MGC176453 2 |
| | | Descriptions |
|---|
| ATP-dependent RNA helicase FANCM 3 | | Fanconi anemia, complementation group M 2 | | Fanconi anemia-associated polypeptide of 250 kDa 3 | | Protein FACM 3 | | Protein Hef ortholog 3 |
|
| | Search outside databases for aliases for FANCM gene |
Summaries for FANCM(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for FANCM: 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. [provided by RefSeq] UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8Function: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA |
Genomic Location for FANCM
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the FANCM gene 
Entrez Gene cytogenetic band: 14q21.3 Ensembl cytogenetic band: 14q21.3 HGNC cytogenetic band: 14q21.3FANCM Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P044675:
(about GC identifiers)
Start:
|
44,674,886 bp from pter |
End:
|
44,739,840 bp from pter |
Size:
|
64,955 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000014.7 NT_026437.11
| Proteins for FANCM
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8 (See
protein sequence)Recommended Name: Fanconi anemia group M protein Size: 2048 amino acids; 232191 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM and FAAP24. The complex is not found in FA patients. Interacts with FAAP24. Interacts with EME1
Subcellular location: Nucleus
Sequence caution: Sequence=BAB13422.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: Q3YFH9 Q8N9X6 Q9HCH6Alternative splicing: 2 isoforms: Q8IYD8-1 Q8IYD8-2 Post-translational modifications:
Phosphorylated; hyperphosphorylated in response to genotoxic stress1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_065988.1
ENSEMBL proteins: ENSP00000267430
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- | About this table
Antibodies for FANCM: Assays for FANCM: | Protein
Domains/ Families for FANCM(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q8IYD8
ProtoNet protein and cluster: Q8IYD8 2 Blocks protein families: IPB002464 ATP-dependent helicase IPB006166 ERCC4 domain
UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8Similarity: Belongs to the DEAD box helicase family. DEAH subfamilySimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domain | Gene Function for FANCM
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_020937
Applied Biosystems Silencer® siRNAs for FANCM
Sigma-Aldrich siRNA for FANCM  Sigma-Aldrich shRNA Panels and shRNA for FANCM  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020937                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020937                                  untagged cDNA clones in CMV expression vector (see all 3): AK093422 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_020937
UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8Function: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNAEnzyme Number (IUBMB): EC 3.6.1.- 5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
): About this table | Pathways & Interactions for FANCM
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for FANCM 
5/15 Interacting proteins for FANCM (Q8IYD82 ENSP000002674303) via UniProtKB, MINT, and/or STRING (see all 15
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006281 | DNA repair |
IEA | -- | | GO:0006974 | response to DNA damage stimulus |
IEA | -- | About this table
|
Drugs & Compounds for FANCM(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for FANCM
|
Transcripts for FANCM(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_020937
Sigma-Aldrich siRNA for FANCM  Sigma-Aldrich shRNA Panels and shRNA for FANCM  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_020937 REFSEQ mRNAs for FANCM gene: NM_020937.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_020937               OriGene GFP tagged cDNA clone in CMV expression vector: NM_020937                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020937                                  untagged cDNA clones in CMV expression vector (see all 3): AK093422  Additional cDNA sequence: AB046816.1 AK001672.1 AK093422.1 AL833656.1 BC036056.1 BC140776.1 BC144511.1 DQ140356.1 8 DOTS entries: DT.100019588 DT.431945 DT.99998272 DT.120757446 DT.75133338 DT.75130572 DT.40125814 DT.40200442 24/49 AceView cDNA sequences (see all 49
):AI565351 AA412595 AA789146 AW517262 AU132940 AI745662 BX282356 CA976036 AI673728 AA424588 AX748116 AA829389 AL833656 BX280532 AK093422 BE350003 BF516426 AW170807 AA953838 BQ434709 BC036056 AA424633 AA766196 AA431595
highest scoring ESTs for FANCM:AA044905 AA424588 AA424633 AB046816 AI204384 AI673728 AK001672 AL833656 AU154369 AW517262 Unigene Cluster for FANCM: Fanconi anemia, complementation group M Hs.509229 [show with all ESTs]Unigene Representative Sequence: NM_020937
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for FANCM
| 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: | |   | |   | - |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for FANCM
1 Ensembl transcript including schematic representation: ENST00000267430
|
Expression for FANCM
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| FANCM expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for FANCM
1 / 2 / 3 10 probe-sets matching FANCM gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CATTTTTCCC
SOURCE GeneReport for Unigene cluster: Hs.509229
|
Orthologs for FANCM
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for FANCM gene from 5/6 species (see all 6
)
About this table Species with no ortholog for FANCM
ENSEMBL Gene Tree for FANCM | Paralogs for FANCM(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for FANCM(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for FANCM (up to first 250kb)
|
Disorders & Mutations for FANCM
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 609644 UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8
Defects in FANCM are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair1 Novoseek disease relationship for FANCM gene
About this table
GeneTests: FANCM Fanconi Anemia Human Gene Mutation Database: FANCM
|
Medical News for FANCM(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for FANCM (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/18 PubMed articles for FANCM gene (see all 18
):- A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)2, 3, 4 Meetei A.R....Wang W. (2005)
- 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. (PubMed id 10997877)2, 3, 4 Nagase T....Ohara O. (2000)
- The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway. (PubMed id 16116434)3, 4 Mosedale G.... Patel K.J. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair. (PubMed id 18285517)1, 3 Xue Y....Wang W. (2008)
- Regulated degradation of FANCM in the Fanconi anemia pathway during mitosis. (PubMed id 19270156)3 Kee Y....D'Andrea A. (2009)
- FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex. (PubMed id 18995830)3 Collis S.J....Boulton S.J. (2008)
- Cell cycle-dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24. (PubMed id 18174376)3 Kim J.M....D'Andrea A.D. (2008)
- The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks. (PubMed id 18206976)3 Gari K....Constantinou A. (2008)
|
Search for FANCM
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FANCM
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing FANCM
(According to HUGE)
About This Section
| |
Specialized Databases showing FANCM(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for FANCM | Genetics and Cytogenetics in Oncology and Haematology | | Fanconi Anemia Mutation Database | http://www.rockefeller.edu/fanconi/mutate/ | | GeneReviews | http://www.genetests.org/query?gene=FANCM |
|
| | | About This Section
| --
| Services for FANCM(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for FANCM:

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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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