ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)

2014-08-01  

Identity

HGNC
ATPAF2
LOCATION
17p11.2
LOCUSID
91647
ALIAS
ATP12,ATP12p,LP3663,MC5DN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91647
MIM: 608918
HGNC: 18802
Ensembl: ENSG00000171953

Variants:

dbSNP: 91647
ClinVar: 91647
TCGA: ENSG00000171953
COSMIC: ATPAF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171953ENST00000444058C9J2Q2
ENSG00000171953ENST00000462733J3KTB2
ENSG00000171953ENST00000474627Q8N5M1
ENSG00000171953ENST00000581698K7ELC1
ENSG00000171953ENST00000584205J3KTB2
ENSG00000171953ENST00000585101J3KTB2

Expression (GTEx)

0
5
10
15
20
25
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

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 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
201675772010Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.16
201675772010Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.16
199332712010Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.4

Citation

Dessen P

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54144/atpaf2