FANCM - FA complementation group M Gene

Also Known as POF15; SPGF28; FAAP250; KIAA1596

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57697

About FANCM

Cytogenetic location: 14q21.2 Genomic coordinates (GRCh38): 14:45,135,930-45,200,890 (from NCBI)

This gene has 41 transcripts (splice variants), 224 orthologues and is associated with 6 phenotypes. Broad expression in testis (RPKM 3.3), lymph node (RPKM 1.2) and 24 other tissues.

Summary

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]

FANCM Products (3)

mRNA	Protein	Name
NM_001308133.2	NP_001295062.1	Fanconi anemia group M protein isoform 2
NM_001308134.2	NP_001295063.1	Fanconi anemia group M protein isoform 3
NM_020937.4	NP_065988.1	Fanconi anemia group M protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	20347429	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17289582	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in interstrand cross-link repair	IDA IDA: Inferred from direct assay	20347429	GOA
involved in positive regulation of protein monoubiquitination	IMP IMP: Inferred from mutant phenotype	29231814	GOA
involved in replication fork processing	IMP IMP: Inferred from mutant phenotype	20347428	GOA
involved in resolution of meiotic recombination intermediates	IMP IMP: Inferred from mutant phenotype	20347428	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of FANCM-MHF complex	IDA IDA: Inferred from direct assay	20347428	GOA
part of FANCM-MHF complex	IPI IPI: Inferred from physical interaction	20347429	GOA
part of Fanconi anaemia nuclear complex	IDA IDA: Inferred from direct assay	20347428	GOA
located in chromatin	IDA IDA: Inferred from direct assay	20347429	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FANCM Protein Structure

DEAD

Helicase_C

ERCC4

0
400
800
1200
1600
2048 a.a.

Protein Preferred Names	Protein Names
Fanconi anemia group M protein	ATP-dependent RNA helicase FANCM

FANCM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FANCM	Q8IYD8	FAAP24	Homo sapiens	Q9BTP7	GMS	17289582
Intra	FANCM	Q8IYD8	FAAP24	Homo sapiens	Q9BTP7	Anti Bait CoIP	17289582
Intra	FANCM	Q8IYD8	FAAP24	Homo sapiens	Q9BTP7	Pull Down	17289582
Intra	FANCM	Q8IYD8	FAAP24	Homo sapiens	Q9BTP7	Anti Tag CoIP	17289582
Intra	FANCM	Q8IYD8	FAAP24	Homo sapiens	Q9BTP7	FPS	17289582
Intra	FANCM	Q8IYD8	EPN2	Homo sapiens	O95208-2	Y2H Prey Pooling	32296183
Intra	FANCM	Q8IYD8	EPN2	Homo sapiens	O95208-2	Y2H Array	32296183
Intra	FANCM	Q8IYD8	MCM2	Homo sapiens	P49736	Anti Bait CoIP	32769987
Intra	FANCM	Q8IYD8	TRIM27	Homo sapiens	P14373	Y2H Array	25416956
Intra	FANCM	Q8IYD8	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Premature Ovarian Failure 15	POF15 Ovarian Failure, Premature, Type 15
Spermatogenic Failure 28	SPGF28
Ovarian Germ Cell Cancer	Ovarian Germ Cell Tumor Malignant Germ Cell Tumor Of Ovary Germ Cell Neoplasm Of Ovary Germ Cell Tumor Of Ovary Mogct Malignant Ovarian Germ Cell Tumor Malignant Ovarian Germ Cell Neoplasm
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Bloom Syndrome	BLM Bs Bls Bloom-Torre-Machacek Syndrome Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1 Mgrisce1 Congenital Telangiectatic Erythema Congenital Telangiectatic Erythema Syndrome Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability Bloom'S Syndrome Bsyn
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Fanconi Anemia, Complementation Group R	Fanconi Anemia Complementation Group R FANCR
Retinoblastoma	RB Trilateral Retinoblastoma RB1 Retinoblastoma, Trilateral Neuroblastoma Of Retina Rb - Retinoblastoma Eye Cancer, Retinoblastoma Retinal Cancer Retinal Tumor Glioma, Retinal Non-Hereditary Retinoblastoma Childhood Cancer Retinoblastoma Malignant Neoplasm Of Retina Retinal Neoplasms
Fanconi Anemia, Complementation Group V	Fanconi Anemia Complementation Group V FANCV
Fanconi Anemia, Complementation Group T	Fanconi Anemia Complementation Group T FANCT
Infertility
Fanconi Anemia, Complementation Group Q	Fanconi Anemia Complementation Group Q FANCQ
Fanconi Anemia, Complementation Group I	Fanconi Anemia Complementation Group I FANCI
Schimke Immunoosseous Dysplasia	Schimke Immuno-Osseous Dysplasia SIOD Immunoosseous Dysplasia, Schimke Type Schimke Syndrome Immunoosseous Dysplasia Schimke Type Spondyloepiphyseal Dysplasia - Nephrotic Syndrome Spondyloepiphyseal Dysplasia Nephrotic Syndrome Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Interstitial Nephritis, Karyomegalic	Karyomegalic Interstitial Nephritis KMIN Kin Systemic Karyomegaly Karyomegalic Tubulointerstitial Nephritis Ktn
Physical Disorder	Physical Illness
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group D2	Fanconi Anemia Complementation Group D2 FANCD2 Fad2 Fa4 Fancd Fanconi Pancytopenia Type 4 Fanconi Anemia, Complementation Group D Fanconi Pancytopenia, Type 4 Facd Fanconi Anemia Complementation Group D
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Deficiency Anemia	Anemia Deficiency Anemias Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-124325	PIP-199		98.0%	Unkown
HY-163573	FANCM-BTR PPI-IN-1		98.61%	Unkown
HY-P11224	RMI-L4	Inhibitor	/	Unkown
HY-P11841	tP4-CPP12	Inhibitor	/	Unkown
HY-P11842	Ac-HFKLYWPPFLGS-NH2	Inhibitor	/	Unkown
HY-RS04741	FANCM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18278	Fancm Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24756	Fancm Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FANCM	VGNC	VGNC:106735
Rattus norvegicus	FANCM	RGD	RGD:1307897
Canis familiaris	FANCM	VGNC	VGNC:40725
Mus musculus	FANCM	MGD	MGI:2442306
Felis catus	FANCM	VGNC	VGNC:97430
Macaca mulatta	FANCM	VGNC	VGNC:72554
Others	FANCM	NCBI