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  2. FANCM - FA complementation group M Gene

FANCM - FA complementation group M Gene

中文名称:FA 互补组 M

种属: Homo sapiens

同用名: POF15; SPGF28; FAAP250; KIAA1596

基因 ID: 57697 | 基因类型: protein coding

关于 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.

功能概要

范可尼贫血互补组 (FANC) 目前包括 FANCA、FANCB、FANCC、FANCD1 (也称为 BRCA2) 、FANCD2、FANCE、FANCF、FANCG、FANCI、FANCJ (也称为 BRIP1) 、FANCL、FANCM 和 FANCN (也称为 PALB2) .先前定义的组 FANCH 与 FANCA 相同。范可尼贫血是一种遗传异质性隐性疾病,其特征是细胞遗传学不稳定、对 DNA 交联剂过敏、染色体断裂增加和 DNA 修复缺陷。 Fanconi 贫血互补组的成员不具有序列相似性;它们通过组装成一个共同的核蛋白复合物而相关。该基因编码互补组 M 的蛋白质。可变剪接导致多个转录变体。[RefSeq 提供,2015 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables chromatin binding IDA
IDA: 通过直接分析推断
20347429 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17289582 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in interstrand cross-link repair IDA
IDA: 通过直接分析推断
20347429 GOA
involved in positive regulation of protein monoubiquitination IMP
IMP: 通过突变表型推断
29231814 GOA
involved in replication fork processing IMP
IMP: 通过突变表型推断
20347428 GOA
involved in resolution of meiotic recombination intermediates IMP
IMP: 通过突变表型推断
20347428 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of FANCM-MHF complex IDA
IDA: 通过直接分析推断
20347428 GOA
part of FANCM-MHF complex IPI
IPI: 通过物理相互作用推断
20347429 GOA
part of Fanconi anaemia nuclear complex IDA
IDA: 通过直接分析推断
20347428 GOA
located in chromatin IDA
IDA: 通过直接分析推断
20347429 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FANCM 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (101 - 254)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (517 - 580)

ERCC4

ERCC4: ERCC4 domain (1829 - 1947)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2048 a.a.
蛋白主名 其他名称

Fanconi anemia group M protein

ATP-dependent RNA helicase FANCM

FANCM 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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