FANCM (FA complementation group M)

2005-11-01  

Identity

HGNC
FANCM
LOCATION
14q21.2
LOCUSID
57697
ALIAS
FAAP250,KIAA1596,POF15,SPGF28

Other Information

Locus ID:

NCBI: 57697
MIM: 609644
HGNC: 23168
Ensembl: ENSG00000187790

Variants:

dbSNP: 57697
ClinVar: 57697
TCGA: ENSG00000187790
COSMIC: FANCM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187790ENST00000267430Q8IYD8
ENSG00000187790ENST00000542564Q8IYD8
ENSG00000187790ENST00000554809H0YJ14
ENSG00000187790ENST00000555484H0YJ45
ENSG00000187790ENST00000556036Q8IYD8
ENSG00000187790ENST00000556250H0YJS3
ENSG00000187790ENST00000557110H0YJN7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
FA core complexKEGGhsa_M00413
FA core complexKEGGM00413
DNA RepairREACTOMER-HSA-73894
Fanconi Anemia PathwayREACTOMER-HSA-6783310

References

Pubmed IDYearTitleCitations
358022662023Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.0
367076292023FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.2
358022662023Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.0
367076292023FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.2
340675802021A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.2
340675802021A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.2
327699872020DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.21
331183162020FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.6
327699872020DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.21
331183162020FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.6
298958582019A homozygous FANCM frameshift pathogenic variant causes male infertility.41
304265082019The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.32
306066112019Mammalian INO80 chromatin remodeler cooperates with FANCM to mediate DNA interstrand crosslink-induced checkpoint activation and repair.2
307144162019A tumor suppressive DNA translocase named FANCM.9
310674642019Remodeling of Interstrand Crosslink Proximal Replisomes Is Dependent on ATR, FANCM, and FANCD2.32

Citation

Dessen P

FANCM (FA complementation group M)

Atlas Genet Cytogenet Oncol Haematol. 2005-11-01

Online version: http://atlasgeneticsoncology.org/gene/43053