• Gene id: 57697

Gene Summary

• Gene Symbol: FANCM   Gene   UCSC   Ensembl
• Aliases: FAAP250, KIAA1596, POF15, SPGF28
• Gene name: FA complementation group M
• Alternate names: Fanconi anemia group M protein, ATP-dependent RNA helicase FANCM, Fanconi anemia complementation group M, fanconi anemia-associated polypeptide of 250 kDa, protein Hef ortholog,
• Gene location: 14q21.2 (45135929: 45200889)     Exons: 25     NC_000020.11
• Gene summary(Entrez): 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 FAN
• OMIM: 609644

SNPs

rs761250416

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.45159190dup
NC_000014.8   g.45628393dup
NG_007417.1   g.28258dup
NM_020937.4   c.1491dup
NM_020937.3   c.1491dup
NM_020937.2   c.1491dup
NM_001308133.2   c.1413dup
NM_001308133.1   c.1413dup
NM_001308134.1   c.1491dup
XM_011537035.3   c.1413dup
XM_011537  

rs144567652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.45198718C>A
NC_000014.9   g.45198718C>T
NC_000014.8   g.45667921C>A
NC_000014.8   g.45667921C>T
NG_007417.1   g.67786C>A
NG_007417.1   g.67786C>T
NM_020937.4   c.5791C>A
NM_020937.4   c.5791C>T
NM_020937.3   c.5791C>A
NM_020937.3   c.5791C>T
NM_020937.2  

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Adenocarcinoma	GAD: 19690177
Cancer (breast)	GAD: 19737859
Fanconi anemia	KEGG: H00238
Spermatogenesis defects	KEGG: H01282
Sertoli cell only syndrome (SCOS)	MIK: 30075111
Non obstructive azoospermia	MIK: 30075111
Non-obstructive azoospermia (NOA)	MIK: 30075111
Sertoli cell-only syndrome (SCOS)	MIK: 30075111
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30075111	Non-obstructive azoospermia (NOA), Sertoli cell-only syndrome (SCOS)	p.Gln498Thr (rs761250416), (c.4387-10A>G), p.Arg1931?; rs144567652	Estonia , Protu gal	4 (2 brothers with NOA and Sertoli cell-only syndrome (SCOS) )	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)