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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	91442
Gene name	FA core complex associated protein 24
Gene symbol	FAAP24
Synonyms (NCBI Gene)	C19orf40
Chromosome	19
Chromosome location	19q13.11
Summary	FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT683337	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT683336	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT683335	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT683334	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT683333	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT683332	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT683331	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT683330	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT683329	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT683328	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT683327	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT683326	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT683325	hsa-miR-302e	HITS-CLIP	23313552
MIRT683324	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT683323	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT683322	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT683321	hsa-miR-520b	HITS-CLIP	23313552
MIRT683320	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT683319	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT683318	hsa-miR-520e	HITS-CLIP	23313552
MIRT683317	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT683316	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT683315	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT683314	hsa-miR-520h	HITS-CLIP	23313552
MIRT683313	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT683312	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT683311	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT683310	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT683309	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT683308	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT683307	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT683306	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT683305	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT683304	hsa-miR-5095	HITS-CLIP	23313552
MIRT683303	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT683302	hsa-miR-6802-3p	HITS-CLIP	23313552
MIRT683301	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT683300	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT642360	hsa-miR-3938	HITS-CLIP	23824327
MIRT642359	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT642358	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT642357	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT642355	hsa-miR-1470	HITS-CLIP	23824327
MIRT642356	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT642354	hsa-miR-5193	HITS-CLIP	23824327
MIRT642353	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT642352	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT642350	hsa-miR-3671	HITS-CLIP	23824327
MIRT642351	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT642348	hsa-miR-5696	HITS-CLIP	23824327
MIRT642349	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT642347	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT642346	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT642345	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT642344	hsa-miR-607	HITS-CLIP	23824327
MIRT642343	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT741178	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT741179	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT741180	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT741181	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT741182	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT741183	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT741184	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT741185	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT741186	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT741187	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT741188	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT741189	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT741190	hsa-miR-302e	HITS-CLIP	23313552
MIRT741191	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT741192	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT741193	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT741194	hsa-miR-520b	HITS-CLIP	23313552
MIRT741195	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT741196	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT741197	hsa-miR-520e	HITS-CLIP	23313552
MIRT741198	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT741199	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT741200	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT741201	hsa-miR-520h	HITS-CLIP	23313552
MIRT741202	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT741203	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT741204	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT741205	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT741206	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT741207	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT741208	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT741209	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT741210	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT741211	hsa-miR-5095	HITS-CLIP	23313552
MIRT741212	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT741213	hsa-miR-6802-3p	HITS-CLIP	23313552
MIRT741214	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT741215	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT742220	hsa-miR-3938	HITS-CLIP	23824327
MIRT742221	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT742222	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT742223	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT742224	hsa-miR-1470	HITS-CLIP	23824327
MIRT742225	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT742226	hsa-miR-5193	HITS-CLIP	23824327
MIRT742227	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT742228	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT742229	hsa-miR-3671	HITS-CLIP	23824327
MIRT742230	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT742231	hsa-miR-5696	HITS-CLIP	23824327
MIRT742232	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT742233	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT742234	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT742235	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT742236	hsa-miR-607	HITS-CLIP	23824327
MIRT742237	hsa-miR-335-3p	HITS-CLIP	23824327

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	20347429
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	20347429
GO:0005515	Function	Protein binding	IPI	17289582, 20347429, 23932590, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0036297	Process	Interstrand cross-link repair	IDA	20347429
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 20347429
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0071821	Component	FANCM-MHF complex	IPI	20347429

MIM	HGNC	e!Ensembl
610884	28467	ENSG00000131944

Q9BTP7

Protein name

Fanconi anemia core complex-associated protein 24 (Fanconi anemia-associated protein of 24 kDa)

Protein function

Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. T

PDB

2LYH , 2M9M , 2M9N , 4BXO , 4M6W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17949	PND	11 → 134	FANCM pseudonuclease domain	Domain
PF12826	HHH_2	162 → 215	Helix-hairpin-helix motif	Motif

Sequence

MEKNPPDDTGPVHVPLGHIVANEKWRGSQLAQEMQGKIKLIFEDGLTPDFYLSNRCCILY
VTEADLVAGNGYRKRLVRVRNSNNLKGIVVVEKTRMSEQYFPALQKFTVLDLGMVLLPVA
SQMEASCLVIQLVQEQTKEPSKNPLLGKKRALLLSEPSLLRTVQQIPGVGKVKAPLLLQK
FPSIQQLSNASIGELEQVVGQAVAQQIHAFFTQPR

Sequence length

215

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		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.
FAAP24-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOPROLIFERATIVE SYNDROME	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

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	18995830, 20670894, 23333308, 27473539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	LHGDN	18995830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	19405097, 20670894, 23932590, 24003026, 35867033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18995830, 20670894, 23333308, 27473539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	27473539		★★★★★ ★☆☆☆☆ Found in Text Mining only

FAAP24 (FA core complex associated protein 24)