GPANK1 (G-patch domain and ankyrin repeats 1)

2014-11-01  

Identity

HGNC
GPANK1
LOCATION
6p21.33
LOCUSID
7918
ALIAS
ANKRD59,BAT4,D6S54E,G5,GPATCH10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7918
MIM: 142610
HGNC: 13920
Ensembl: ENSG00000204438

Variants:

dbSNP: 7918
ClinVar: 7918
TCGA: ENSG00000204438
COSMIC: GPANK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204438ENST00000375893O95872
ENSG00000204438ENST00000375893A0A024RCU2
ENSG00000204438ENST00000375895O95872
ENSG00000204438ENST00000375895A0A024RCU2
ENSG00000204438ENST00000375896O95872
ENSG00000204438ENST00000375896A0A024RCU2
ENSG00000204438ENST00000375900O95872
ENSG00000204438ENST00000375900A0A024RCU2
ENSG00000204438ENST00000375906O95872
ENSG00000204438ENST00000375906A0A024RCU2
ENSG00000204438ENST00000445768F6QYZ9
ENSG00000204438ENST00000456540A0A0A0MSL5
ENSG00000204438ENST00000458083A0A0A0MSL4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
191159492009Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).119
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
188358792008Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

GPANK1 (G-patch domain and ankyrin repeats 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63921/gpank1