ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)

2003-02-01  

Identity

HGNC
ANKS1B
LOCATION
12q23.1
LOCUSID
56899
ALIAS
AIDA,AIDA-1,ANKS2,EB-1,EB1,cajalin-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56899
MIM: 607815
HGNC: 24600
Ensembl: ENSG00000185046

Variants:

dbSNP: 56899
ClinVar: 56899
TCGA: ENSG00000185046
COSMIC: ANKS1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185046ENST00000329257J3QSU0
ENSG00000185046ENST00000333732F8VR14
ENSG00000185046ENST00000341752Q7Z6G8
ENSG00000185046ENST00000546364R4GN78
ENSG00000185046ENST00000546568Q7Z6G8
ENSG00000185046ENST00000546960Q7Z6G8
ENSG00000185046ENST00000547010Q7Z6G8
ENSG00000185046ENST00000547362R4GMN5
ENSG00000185046ENST00000547446Q7Z6G8
ENSG00000185046ENST00000547776Q7Z6G8
ENSG00000185046ENST00000548447R4GN73
ENSG00000185046ENST00000549025Q7Z6G8
ENSG00000185046ENST00000549493Q7Z6G8
ENSG00000185046ENST00000549558Q7Z6G8
ENSG00000185046ENST00000549797R4GMQ4
ENSG00000185046ENST00000549866F8VVQ4
ENSG00000185046ENST00000550693Q7Z6G8
ENSG00000185046ENST00000550778H0YI72
ENSG00000185046ENST00000551560R4GNJ0
ENSG00000185046ENST00000551613R4GN70
ENSG00000185046ENST00000552407R4GMS8
ENSG00000185046ENST00000552748R4GN07
ENSG00000185046ENST00000555119H0YJZ1

Expression (GTEx)

0
5
10
15
20
25
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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162565877amisulprideChemicalClinicalAnnotationassociatedPD28332719
PA166119022methamphetamine dependenceDiseaseClinicalAnnotationassociatedPD31462767
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD31462767
PA444460Heroin DependenceDiseaseClinicalAnnotationassociatedPD31462767
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD28332719
PA448073ethanolChemicalClinicalAnnotationassociatedPD31462767
PA450403methamphetamineChemicalClinicalAnnotationassociatedPD31462767
PA452619heroinChemicalClinicalAnnotationassociatedPD31462767

References

Pubmed IDYearTitleCitations
387599282024AIDA-1/ANKS1B Binds to the SynGAP Family RasGAPs with High Affinity and Specificity.0
387599282024AIDA-1/ANKS1B Binds to the SynGAP Family RasGAPs with High Affinity and Specificity.0
375970212023Replication stress causes delayed mitotic entry and chromosome 12 fragility at the ANKS1B large neuronal gene in human induced pluripotent stem cells.0
375970212023Replication stress causes delayed mitotic entry and chromosome 12 fragility at the ANKS1B large neuronal gene in human induced pluripotent stem cells.0
335561912021Circular RNA circANKS1B acts as a sponge for miR-152-3p and promotes prostate cancer progression by upregulating TGF-α expression.11
347818142021Regulation of transforming growth factor-beta1 by circANKS1B/miR-515-5p affects the metastatic potential and cisplatin resistance in oral squamous cell carcinoma.9
335561912021Circular RNA circANKS1B acts as a sponge for miR-152-3p and promotes prostate cancer progression by upregulating TGF-α expression.11
347818142021Regulation of transforming growth factor-beta1 by circANKS1B/miR-515-5p affects the metastatic potential and cisplatin resistance in oral squamous cell carcinoma.9
313880012019Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.14
313880012019Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.14
304540102018The pro-metastasis effect of circANKS1B in breast cancer.159
304540102018The pro-metastasis effect of circANKS1B in breast cancer.159
283327192017rs7968606 polymorphism of ANKS1B is associated with improvement in the PANSS general score of schizophrenia caused by amisulpride.3
283327192017rs7968606 polymorphism of ANKS1B is associated with improvement in the PANSS general score of schizophrenia caused by amisulpride.3
244798132014ANKS1B is a smoking-related molecular alteration in clear cell renal cell carcinoma.29

Citation

Dessen P

ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40391/haematological-explorer/css/img/logo-atlas-4.svg