FANCM |
Gene Facts External Data Attribution
- HGNC Symbol
- FANCM (HGNC:23168) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- FA complementation group M
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- KIAA1596
- Alias symbols
- FAAP250
- %HI
- 44.79(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.59(Read more about gnomAD LOEUF score)
- Cytoband
- 14q21.2
- Genomic Coordinates
-
GRCh37/hg19: chr14:45605133-45670093 NCBI Ensembl UCSC GRCh38/hg38: chr14:45135930-45200890 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020937.4 ENST00000267430.10 (Read more about MANE Select)
- Function
- DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross- linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork- structured DNA (fsDNA)... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12770
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)