ANKRD26 (ankyrin repeat domain 26)

2016-10-01  

Identity

HGNC
ANKRD26
LOCATION
10p12.1
LOCUSID
22852
ALIAS
THC2,bA145E8.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22852
MIM: 610855
HGNC: 29186
Ensembl: ENSG00000107890

Variants:

dbSNP: 22852
ClinVar: 22852
TCGA: ENSG00000107890
COSMIC: ANKRD26

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107890ENST00000376087Q9UPS8
ENSG00000107890ENST00000436985E7ESJ3
ENSG00000107890ENST00000445828H0Y4T9

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
214675422011Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.60
212116182011Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.46
244301862014Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.38
240302612013ANKRD26-related thrombocytopenia and myeloid malignancies.28
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
232239742013Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.16
238690802013A missense mutation in ANKRD26 segregates with thrombocytopenia.7
246282962014A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies.6
261752872015Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.6
2810025020175'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.4

Citation

Dessen P

ANKRD26 (ankyrin repeat domain 26)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55967/ankrd26