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FANCM Gene

protein-coding GIFtS: 63
GCID: GC14P045605

Fanconi Anemia, Complementation Group M

(Previous name: KIAA1596)
(Previous symbol: KIAA1596)

See FANCM-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Fanconi Anemia, Complementation Group M¹ ²		ATP-Dependent RNA Helicase FANCM² ³
KIAA1596¹ ² ³ ⁵		Fanconi Anemia Group M Protein²
Fanconi Anemia-Associated Polypeptide Of 250 KDa² ³		EC 3.6.4.13³
Protein Hef Ortholog² ³		Protein FACM³
FAAP250² ³		EC 3.6.1⁸

External Ids:	HGNC: 23168¹	Entrez Gene: 57697²	Ensembl: ENSG00000187790⁷	OMIM: 609644⁵	UniProtKB: Q8IYD8³

Export aliases for FANCM gene to outside databases

Previous GC identifers: GC14P044675 GC14P025716

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Jul 2008)

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 m, and fancm-related fanconi anemia. GO annotations related to this gene include chromatin binding and nuclease activity.

UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8

Function: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to

dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such

lesions

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000014.8 NT_026437.13 NC_018925.2

Regulatory elements:

Regulatory transcription factor binding sites in the FANCM gene promoter:
SRF USF1 AML1a SRF (504 AA) MyoD Lmo2 FOXC1 USF-1 Cart-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FANCM promoter sequence

Search Chromatin IP Primers for FANCM

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FANCM

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21.2 Ensembl cytogenetic band: 14q21.2 HGNC cytogenetic band: 14q21.3

FANCM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANCM gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P045605: view genomic region (about GC identifiers)

Start:	45,605,136 bp from pter	End:	45,670,093 bp from pter
Size:	64,958 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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 APITD1, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG,

FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. The complex is not found in FA patients. Interacts with APITD1/CENPS,

FAAP24 and EME1

Sequence caution: Sequence=BAB13422.1; Type=Miscellaneous discrepancy; Note=Intron retention;

5 PDB 3D structures from and Proteopedia for FANCM:

4BXO (3D)

4DAY (3D)

4DRB (3D)

4E45 (3D)

4M6W (3D)

Secondary accessions: Q3YFH9 Q8N9X6 Q9HCH6

Alternative splicing: 2 isoforms: Q8IYD8-1 Q8IYD8-2

Explore the universe of human proteins at neXtProt for FANCM: NX_Q8IYD8

Explore proteomics data for FANCM at MOPED

Post-translational modifications:

Phosphorylated; hyperphosphorylated in response to genotoxic stress¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

3 DME Specific Peptides for FANCM (Q8IYD8)

APTKPLV

IQILESF

QRMGRTGRKR

See FANCM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_065988.1

ENSEMBL proteins:

ENSP00000450596 ENSP00000267430 ENSP00000442493 ENSP00000452033 ENSP00000450632

ENSP00000451846 ENSP00000450797

Reactome Protein details: Q8IYD8

FANCM Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

FANC: Fanconi anemia, complementation groups

Selected InterPro protein domains (see all 8):

IPR011545 DNA/RNA_helicase_DEAD/DEAH_N

IPR011335 Restrct_endonuc-II-like

IPR020819 DNA_repair_nuc_XPF/helicase

IPR006166 ERCC4_domain

IPR027417 P-loop_NTPase

Graphical View of Domain Structure for InterPro Entry Q8IYD8

ProtoNet protein and cluster: Q8IYD8

2 Blocks protein domains:

IPB002464 ATP-dependent helicase

IPB006166 ERCC4 domain

UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8

Similarity: Belongs to the DEAD box helicase family. DEAH subfamily

Similarity: Contains 1 helicase ATP-binding domain

Similarity: Contains 1 helicase C-terminal domain

Find genes that share domains with FANCM About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: FANCM_HUMAN, Q8IYD8

Function: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to

dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such

lesions

Catalytic activity: ATP + H(2)O = ADP + phosphate

Enzyme Numbers (IUBMB): EC 3.6.1² EC 3.6.4.13¹

Gene Ontology (GO): Selected molecular function terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	IDA	--
GO:0004386	helicase activity	--	--
GO:0004518	nuclease activity	IEA	--

Find genes that share ontologies with FANCM About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for FANCM:

Increased gamma-H2AX phosphory

7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fancm):

cellular	endocrine/exocrine gland	hematopoietic system	mortality/aging	no phenotypic analysis
reproductive system	tumorigenesis

Find genes that share phenotypes with FANCM About GenesLikeMe

Animal Models:
MGI mouse knock-out Fancm^tm1.1Htr for FANCM

genOway: Develop your customized and physiologically relevant rodent model for FANCM

miRNA Products:		miRTarBase miRNAs that target FANCM: hsa-mir-192-5p (MIRT026567), hsa-mir-193b-3p (MIRT016474)

		Block miRNA regulation of human, mouse, rat FANCM using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate FANCM (see all 10):
		hsa-miR-3163 hsa-miR-3616-5p hsa-miR-3120-3p hsa-miR-3647-5p hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p hsa-miR-338-5p

		SwitchGear 3'UTR luciferase reporter plasmid: FANCM 3' UTR sequence

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCM

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

FANCM_HUMAN, Q8IYD8: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	2
mitochondrion	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005730	NOT nucleolus	IDA	--
GO:0043240	Fanconi anaemia nuclear complex	IDA	--
GO:0071821	FANCM-MHF complex	IDA	--

Find genes that share ontologies with FANCM About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for FANCM About

See pathways by source

Powered
by

SuperPath

Contained pathways About

DNA Repair

DNA Repair

0.45

Fanconi Anemia pathway (REACTOME)

Fanconi Anemia pathway

Fanconi anemia pathway (KEGG)

Fanconi anemia pathway

Find genes that share SuperPaths with FANCM About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for FANCM

Fanconi Anemia pathway

1 Kegg Pathway (Kegg details for FANCM):

Fanconi anemia pathway

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for FANCM
Interactions:

GeneGlobe Interaction Network for FANCM

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for FANCM (Q8IYD8^{2, 3} ENSP00000267430⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 204)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCG	O15287²^,³, ENSP00000367910⁴	MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000367910
APITD1	Q8N2Z9²^,³	MINT-8434669 MINT-8434303 I2D: score=1
FANCL	Q9NW38²^,³, ENSP00000385021⁴	MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000385021
C17orf70	Q0VG06²^,³, ENSP00000333283⁴	MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000333283
FANCB	Q8NB91²^,³, ENSP00000326819⁴	MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000326819

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Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000712	resolution of meiotic recombination intermediates	IMP	--
GO:0006259	DNA metabolic process	--	--
GO:0006281	DNA repair	TAS	--
GO:0031297	replication fork processing	IMP	--

Find genes that share ontologies with FANCM About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for FANCM

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for FANCM gene:

NM_020937.2

Unigene Cluster for FANCM:

Fanconi anemia, complementation group M

Hs.509229 [show with all ESTs]

Unigene Representative Sequence: NM_020937

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000556036(uc001wwc.2) ENST00000267430(uc001wwd.4 uc010anf.3 uc001wwe.4)

ENST00000542564 ENST00000554030 ENST00000556250(uc010ang.3) ENST00000554809

ENST00000555013 ENST00000557110 ENST00000555484 ENST00000553551

miRNA Products:		Block miRNA regulation of human, mouse, rat FANCM using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate FANCM (see all 10):
		hsa-miR-3163 hsa-miR-3616-5p hsa-miR-3120-3p hsa-miR-3647-5p hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p hsa-miR-338-5p

		SwitchGear 3'UTR luciferase reporter plasmid: FANCM 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: FANCM (NM_020937)
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		QuantiFast Probe-based Assays in human, mouse, rat FANCM

Additional mRNA 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

Selected AceView cDNA sequences (see all 49):

AA789146 BE350003 AA829389 BX280532 AA953838 BQ434709 AI745662 AA424588

CA976036 AU132940 AI565351 AA424633 AX748116 AA412595 AW517262 AK093422

AW170807 BX282356 BF516426 AI673728 AL833656 BC036056 BU102012 CD652398

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for FANCM About this scheme

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:					-

ECgene alternative splicing isoforms for FANCM

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FANCM expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CATTTTTCCC

About this image

FANCM Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

FANCM Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.509229

Custom PCR Arrays for FANCM

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCM

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for FANCM gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fancm^{1 , 5}	Fanconi anemia, complementation group M^{1, 5}	75.53(n)¹ 66.92(a)¹		12 (27.21 cM)⁵ 104806¹ NM_178912.3¹ NP_849243.2¹ 65075606⁵
chicken (Gallus gallus)	Aves	FANCM¹	Fanconi anemia, complementation group M	57.73(n) 50.91(a)		100857997 XM_003641452.2 XP_003641500.2
lizard (Anolis carolinensis)	Reptilia	FANCM⁶	Fanconi anemia, complementation group M	39(a)	1 ↔ 1	GL343274.1(22914-87924)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.18400²	Transcribed sequence with weak similarity to protein more	77.54(n)		AL965241.2
zebrafish (Danio rerio)	Actinopterygii	FANCM (3 of 3)⁶ FANCM (2 of 3)⁶ (see all 3)	Fanconi anemia, complementation group M (see all 3)	64(a) 52(a) (see all 3)	many → 1 many → 1 (see all 3)	Zv9_NA437(27118-33285) ENSDARG00000091063 Zv9_NA437(33843-35526) ENSDARG00000090610
fruit fly (Drosophila melanogaster)	Insecta	CG7922⁶	--	25(a)	1 ↔ 1	3R(17308047-17313007)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MPH1(YIR002C)⁴	Member of the DEAH family of helicases, functions in more	--		9(360396-357415) 854818 NP_012267.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146045168^1,2		--	26585095(+)	`GAAGAC/TGAGGG`	1	--	us2k¹		0	--	--	--	--
rs200895253^1,2	C	--	26585192(+)	`CTCTGA/GTACCG`	1	--	us2k¹		0	--	--	--	--
rs111523571^1,2	C	--	26585231(+)	`GATAAC/TGTCCT`	1	--	us2k¹		0	--	--	--	--
rs188886335^1,2		--	26585244(+)	`TTGGGA/CAGCTG`	1	--	us2k¹		0	--	--	--	--
rs115291634^1,2	C,F	--	26585292(+)	`GGAACG/AGCCGC`	1	--	us2k¹		1		NA	4110
rs201244294^1,2		--	26585342(+)	`CCGCCA/GCAGTT`	1	--	us2k¹		0	--	--	--	--
rs139907063^1,2	C	--	26585507(+)	`CGCGGA/TCGTCT`	1	--	us2k¹		0	--	--	--	--
rs142184950^1,2	C	--	26585734(+)	`GCTTCA/CGTCCT`	1	--	us2k¹		0	--	--	--	--
rs78887682^1,2		--	26585926(+)	`CTGATA/GAGAAT`	1	--	us2k¹		0	--	--	--	--
rs140166999^1,2		--	26585934(+)	`AATGAC/TATTAT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FANCM (45605136 - 45670093 bp)

Structural Variations
Database of Genomic Variants (DGV) 8 variations for FANCM: About this table

Variant ID	Type	Subtype	PubMed ID
esv2676798	CNV	Deletion	23128226
nsv901842	CNV	Loss	21882294
nsv832785	CNV	Loss	17160897
nsv901841	CNV	Loss	21882294
nsv901845	CNV	Loss	21882294
esv23137	CNV	Loss	19812545
nsv901844	CNV	Loss	21882294
nsv901843	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): FANCM
Locus Specific Mutation Databases (LSDB): FANCM

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609644
OMIM disorders: 614087
UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8

Fanconi anemia complementation group M (FANCM) [MIM:614087]: A disorder affecting all bone marrow

elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb

malformations, dermal pigmentary changes, 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 repair. Note=The disease is caused by mutations affecting the gene

represented in this entry

4 diseases for FANCM:
About MalaCards

fanconi anemia, complementation group m fancm-related fanconi anemia fanconi's anemia fanconi anemia, complementation group j

2 inferred disease relationships from the University of Copenhagen DISEASES database for FANCM:

Bone marrow disease Anemia

Find genes that share disorders with FANCM About GenesLikeMe

2 Novoseek inferred disease relationships for FANCM gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fanconis anemia	91.7	5	18285517 (1), 20064461 (1), 19158388 (1), 19861535 (1)
cancer	25.2	1	19861535 (1)

GeneTests: FANCM
GeneReviews: FANCM
Genetic Association Database (GAD): FANCM
Human Genome Epidemiology (HuGE) Navigator: FANCM (6 documents)

Export disorders for FANCM gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FANCM gene, integrated from 10 sources (see all 51):
(articles sorted by number of sources associating them with FANCM)

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A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)^{1, 2, 3} Meetei A.R.... Wang W. (Nat. Genet. 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)^{1, 2, 3} Nagase T.... Ohara O. (DNA Res. 2000)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PubMed id 19536649)^{1, 4} Barroso E....Ribas G. (Breast Cancer Res. Treat. 2009)
Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. (PubMed id 19690177)^{1, 4} McWilliams R.R....Petersen G.M. (amp 2009)
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. (PubMed id 19737859)^{1, 4} GarcA-a M.J....BenA-tez J. (Carcinogenesis 2009)
Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. (PubMed id 17289582)^{1, 2} Ciccia A....West S.C. (Mol. Cell 2007)
The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway. (PubMed id 16116434)^{1, 2} Mosedale G.... Patel K.J. (Nat. Struct. Mol. Biol. 2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57697	HGNC: 23168	AceView: KIAA1596	Ensembl:ENSG00000187790	euGenes: HUgn57697
ECgene: FANCM	Kegg: 57697	H-InvDB: FANCM

(According to HUGE)
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HUGE: KIAA1596

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FANCM	Pharmacogenomics, SNPs, Pathways
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.ncbi.nlm.nih.gov/books/NBK1116/?term=FANCM[genesymbol]

Intellectual Property for FANCM gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FANCM gene:
Search GeneIP for patents involving FANCM

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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