FAAP24 (FA core complex associated protein 24)

2005-02-01 Affiliation

Identity

HGNC

FAAP24

LOCATION

19q13.11

LOCUSID

91442

ALIAS

C19orf40

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 91442
MIM: 610884
HGNC: 28467
Ensembl: ENSG00000131944

Variants:

dbSNP: 91442
ClinVar: 91442
TCGA: ENSG00000131944
COSMIC: FAAP24

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131944	ENST00000254262	X6R368
ENSG00000131944	ENST00000588258	Q9BTP7
ENSG00000131944	ENST00000588258	A0A0S2Z5V6
ENSG00000131944	ENST00000589646	K7EKQ4
ENSG00000131944	ENST00000590179	K7EKQ4
ENSG00000131944	ENST00000590281	Q9BTP7
ENSG00000131944	ENST00000590281	A0A0S2Z5V6

Expression (GTEx)

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

Pathway	Source	External ID
Fanconi anemia pathway	KEGG	ko03460
Fanconi anemia pathway	KEGG	hsa03460
FA core complex	KEGG	hsa_M00413
FA core complex	KEGG	M00413
DNA Repair	REACTOME	R-HSA-73894
Fanconi Anemia Pathway	REACTOME	R-HSA-6783310

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
27473539	2016	Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.	9
27473539	2016	Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.	9
23333308	2013	FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions.	47
23932590	2013	Architecture and DNA recognition elements of the Fanconi anemia FANCM-FAAP24 complex.	10
23999858	2013	Structure analysis of FAAP24 reveals single-stranded DNA-binding activity and domain functions in DNA damage response.	5
24003026	2013	Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair.	11
23333308	2013	FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions.	47
23932590	2013	Architecture and DNA recognition elements of the Fanconi anemia FANCM-FAAP24 complex.	10
23999858	2013	Structure analysis of FAAP24 reveals single-stranded DNA-binding activity and domain functions in DNA damage response.	5
24003026	2013	Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair.	11
20670894	2010	The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response.	75
20670894	2010	The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response.	75
18174376	2008	Cell cycle-dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24.	108
18206976	2008	The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks.	151
18995830	2008	FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex.	116

Citation

Dessen P

FAAP24 (FA core complex associated protein 24)

Atlas Genet Cytogenet Oncol Haematol. 2005-02-01

Online version: http://atlasgeneticsoncology.org/gene/42944