ANK2 (ankyrin 2)

2003-05-01  

Identity

HGNC
LOCATION
4q25
LOCUSID
ALIAS
ANK-2,CFAP87,FAP87,LQT4,brank-2
FUSION GENES

Other Information

Locus ID:

NCBI: 287
MIM: 106410
HGNC: 493
Ensembl: ENSG00000145362

Variants:

dbSNP: 287
ClinVar: 287
TCGA: ENSG00000145362
COSMIC: ANK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145362ENST00000264366I6L894
ENSG00000145362ENST00000357077Q01484
ENSG00000145362ENST00000394537Q01484
ENSG00000145362ENST00000503271B7Z651
ENSG00000145362ENST00000503423D6RHE1
ENSG00000145362ENST00000504415H0YAG3
ENSG00000145362ENST00000504454E9PHW9
ENSG00000145362ENST00000505342H0Y8Y2
ENSG00000145362ENST00000506344H0Y933
ENSG00000145362ENST00000506722Q01484
ENSG00000145362ENST00000509550E9PCH6
ENSG00000145362ENST00000510275Q01484
ENSG00000145362ENST00000511380D6RIY9
ENSG00000145362ENST00000514167H0Y8X8
ENSG00000145362ENST00000514960H0Y931
ENSG00000145362ENST00000612754A0A087WZU3
ENSG00000145362ENST00000634436A0A0U1RQN6
ENSG00000145362ENST00000671825A0A024RDI4
ENSG00000145362ENST00000672830A0A024RDK2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
COPI-mediated anterograde transportREACTOMER-HSA-6807878

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
125715972003Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.261
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188321772008Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.75
172422762007Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218599742011Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation.49
152629912004Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes.46
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.46
187827752008Obscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-line.45
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42

Citation

Dessen P

ANK2 (ankyrin 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/642/ank2