Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	199990
Gene name	FA core complex associated protein 20
Gene symbol	FAAP20
Synonyms (NCBI Gene)	C1orf86FP7162
Chromosome	1
Chromosome location	1p36.33

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0005515	Function	Protein binding	IPI	22266823, 22343915, 22705371, 26318859, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA	22266823, 22343915, 22705371
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	22266823, 22343915, 22396592, 22705371
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019985	Process	Translesion synthesis	IMP	22266823
GO:0030054	Component	Cell junction	IDA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	22396592
GO:0036297	Process	Interstrand cross-link repair	IMP	22266823, 22396592, 22705371
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043130	Function	Ubiquitin binding	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	22266823, 22343915, 22396592, 22705371
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0046872	Function	Metal ion binding	IEA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	22343915, 22705371
GO:0140036	Function	Ubiquitin-modified protein reader activity	IDA	22266823

MIM	HGNC	e!Ensembl
615183	26428	ENSG00000162585

Q6NZ36

Protein name

Fanconi anemia core complex-associated protein 20 (FANCA-associated protein of 20 kDa) (Fanconi anemia-associated protein of 20 kDa)

Protein function

Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recr

PDB

2MUQ , 2MUR , 3WWQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15751	FANCA_interact	35 → 139	FAAP20 FANCA interaction domain	Family
PF15750	UBZ_FAAP20	144 → 178	Ubiquitin-binding zinc-finger	Family

Sequence

MEAARRPRLGLSRRRPRPAGGPSGGRPWFLLGGDERERLWAELLRTVSPELILDHEVPSL
PAFPGQEPRCGPEPTEVFTVGPKTFSWTPFPPDLWGPGRSYRLLHGAGGHLESPARSLPQ
RPAPDPCRAPRVEQQPSVEGAAALRSCPMCQKEFAPRLTQLDVDSHLAQCLAESTEDVTW

Sequence length

180

Interactions

View interactions

	Reactome
			Fanconi Anemia Pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Fanconi Anemia	Fanconi Anemia	BEFREE	22343915, 22705371, 25917546, 29400309, 30789902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	29400309, 30789902, 32763975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	22343915, 22705371, 25917546, 29400309, 30789902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	25917546		★★★★★ ★☆☆☆☆ Found in Text Mining only

FAAP20 (FA core complex associated protein 20)