ANK3 (ankyrin 3)

2007-02-01  

Identity

HGNC
ANK3
LOCATION
10q21.2
LOCUSID
288
ALIAS
ANKYRIN-G,MRT37
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 288
MIM: 600465
HGNC: 494
Ensembl: ENSG00000151150

Variants:

dbSNP: 288
ClinVar: 288
TCGA: ENSG00000151150
COSMIC: ANK3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151150ENST00000280772Q12955
ENSG00000151150ENST00000355288Q12955
ENSG00000151150ENST00000373815B1AQT1
ENSG00000151150ENST00000373820H0Y3A4
ENSG00000151150ENST00000373827Q12955
ENSG00000151150ENST00000459732A0A087WWI5
ENSG00000151150ENST00000460468D6RF31
ENSG00000151150ENST00000467420H0Y9E9
ENSG00000151150ENST00000474360H0Y8Z4
ENSG00000151150ENST00000486349A0A087X0L3
ENSG00000151150ENST00000502769H0Y951
ENSG00000151150ENST00000503366Q12955
ENSG00000151150ENST00000503925D6RHY3
ENSG00000151150ENST00000506635D6RBY7
ENSG00000151150ENST00000511043H0YA66
ENSG00000151150ENST00000513049D6RFK6
ENSG00000151150ENST00000514197H0YAH5
ENSG00000151150ENST00000610321A0A087WTF3
ENSG00000151150ENST00000610901A0A087WVC2
ENSG00000151150ENST00000612776A0A087WY90
ENSG00000151150ENST00000613207A0A087WTE8
ENSG00000151150ENST00000616444A0A087WZ65
ENSG00000151150ENST00000617800A0A087WX55
ENSG00000151150ENST00000618080A0A087WZ26
ENSG00000151150ENST00000621739A0A087WTP5
ENSG00000151150ENST00000622427A0A087X0B4

Expression (GTEx)

0
10
20
30
40
50
60
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
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
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
386578952024Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.0
387026952024ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome.0
386578952024Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.0
387026952024ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome.0
376203942023Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders.0
378913242023Dynamic interactions between E-cadherin and Ankyrin-G mediate epithelial cell polarity maintenance.0
376203942023Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders.0
378913242023Dynamic interactions between E-cadherin and Ankyrin-G mediate epithelial cell polarity maintenance.0
350915392022Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.1
350915392022Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.1
335564572021Axonal TAU Sorting Requires the C-terminus of TAU but is Independent of ANKG and TRIM46 Enrichment at the AIS.9
337297392021A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.5
342183622021ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.5
335564572021Axonal TAU Sorting Requires the C-terminus of TAU but is Independent of ANKG and TRIM46 Enrichment at the AIS.9
337297392021A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.5

Citation

Dessen P

ANK3 (ankyrin 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45914/ank3-(ankyrin-3)