ANKRD27 (ankyrin repeat domain 27)

2014-08-01  

Identity

HGNC
ANKRD27
LOCATION
19q13.11
LOCUSID
84079
ALIAS
PP12899,VARP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84079
HGNC: 25310
Ensembl: ENSG00000105186

Variants:

dbSNP: 84079
ClinVar: 84079
TCGA: ENSG00000105186
COSMIC: ANKRD27

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105186ENST00000306065Q96NW4
ENSG00000105186ENST00000586463K7EPM2
ENSG00000105186ENST00000586693V9GYL8
ENSG00000105186ENST00000587352K7ELM1
ENSG00000105186ENST00000588700K7ENE0
ENSG00000105186ENST00000590519K7EIN0
ENSG00000105186ENST00000591100K7EIH4

Expression (GTEx)

0
5
10
15
20
25
30
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
330241122020Mechanism and evolution of the Zn-fingernail required for interaction of VARP with VPS29.12
330241122020Mechanism and evolution of the Zn-fingernail required for interaction of VARP with VPS29.12
271031852016Multiple Roles of VARP in Endosomal Trafficking: Rabs, Retromer Components and R-SNARE VAMP7 Meet on VARP.17
271031852016Multiple Roles of VARP in Endosomal Trafficking: Rabs, Retromer Components and R-SNARE VAMP7 Meet on VARP.17
254079412014GWAS identifies four novel eosinophilic esophagitis loci.114
254079412014GWAS identifies four novel eosinophilic esophagitis loci.114
231040592012The binding of Varp to VAMP7 traps VAMP7 in a closed, fusogenically inactive conformation.36
231040592012The binding of Varp to VAMP7 traps VAMP7 in a closed, fusogenically inactive conformation.36
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
197458412009Role of Varp, a Rab21 exchange factor and TI-VAMP/VAMP7 partner, in neurite growth.47
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
197458412009Role of Varp, a Rab21 exchange factor and TI-VAMP/VAMP7 partner, in neurite growth.47
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
184774742008Varp interacts with Rab38 and functions as its potential effector.16

Citation

Dessen P

ANKRD27 (ankyrin repeat domain 27)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54125/favicon/favicon/js/lib/bootstrap.min.js