ANK2 (ankyrin 2)

2003-05-01  

Identity

HGNC
ANK2
LOCATION
4q25
LOCUSID
287
ALIAS
ANK-2,CFAP87,FAP87,LQT4,brank-2
FUSION GENES
Show Gene Fusions

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
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
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
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
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
371952882023ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.1
371952882023ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.1
328534192021lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression of colorectal cancer via regulating ANK2/JAK2 expression.11
328534192021lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression of colorectal cancer via regulating ANK2/JAK2 expression.11
320239812020Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.12
321644232020Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans.4
326400132020Giant ankyrin-B suppresses stochastic collateral axon branching through direct interaction with microtubules.7
327700992020Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.3
332180352020ANK2 Hypermethylation in Canine Mammary Tumors and Human Breast Cancer.7
334104232020Human ankyrins and their contribution to disease biology: An update.4
320239812020Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.12
321644232020Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans.4
326400132020Giant ankyrin-B suppresses stochastic collateral axon branching through direct interaction with microtubules.7
327700992020Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.3
332180352020ANK2 Hypermethylation in Canine Mammary Tumors and Human Breast Cancer.7

Citation

Dessen P

ANK2 (ankyrin 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/642/case-report-explorer/img/logo-atlas-4.svg