FAAP24 (FA core complex associated protein 24)

2005-02-01  

Identity

HGNC
FAAP24
LOCATION
19q13.11
LOCUSID
91442
ALIAS
C19orf40

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131944ENST00000254262X6R368
ENSG00000131944ENST00000588258Q9BTP7
ENSG00000131944ENST00000588258A0A0S2Z5V6
ENSG00000131944ENST00000589646K7EKQ4
ENSG00000131944ENST00000590179K7EKQ4
ENSG00000131944ENST00000590281Q9BTP7
ENSG00000131944ENST00000590281A0A0S2Z5V6

Expression (GTEx)

0
5
10
15
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

PathwaySourceExternal ID
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
FA core complexKEGGhsa_M00413
FA core complexKEGGM00413
DNA RepairREACTOMER-HSA-73894
Fanconi Anemia PathwayREACTOMER-HSA-6783310

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
172895822007Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.150
182069762008The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks.134
181743762008Cell cycle-dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24.99
189958302008FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex.99
206708942010The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response.61
233333082013FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions.36
239325902013Architecture and DNA recognition elements of the Fanconi anemia FANCM-FAAP24 complex.10
240030262013Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair.8
239998582013Structure analysis of FAAP24 reveals single-stranded DNA-binding activity and domain functions in DNA damage response.4
274735392016Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.4

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/faap24