ANKRD27 (ankyrin repeat domain 27)

2014-08-01  

Identity

HGNC
LOCATION
19q13.11
LOCUSID
ALIAS
PP12899,VARP
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
254079412014GWAS identifies four novel eosinophilic esophagitis loci.61
197458412009Role of Varp, a Rab21 exchange factor and TI-VAMP/VAMP7 partner, in neurite growth.37
231040592012The binding of Varp to VAMP7 traps VAMP7 in a closed, fusogenically inactive conformation.23
184774742008Varp interacts with Rab38 and functions as its potential effector.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
271031852016Multiple Roles of VARP in Endosomal Trafficking: Rabs, Retromer Components and R-SNARE VAMP7 Meet on VARP.9

Citation

Dessen P

ANKRD27 (ankyrin repeat domain 27)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54125/ankrd27