XIRP2 (xin actin binding repeat containing 2)

2014-01-01  

Identity

HGNC
XIRP2
LOCATION
2q24.3
LOCUSID
129446
ALIAS
CMYA3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 129446
MIM: 609778
HGNC: 14303
Ensembl: ENSG00000163092

Variants:

dbSNP: 129446
ClinVar: 129446
TCGA: ENSG00000163092
COSMIC: XIRP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163092ENST00000295237A0A0A0MQZ3
ENSG00000163092ENST00000409043A4UGR9
ENSG00000163092ENST00000409195A4UGR9
ENSG00000163092ENST00000409273A4UGR9
ENSG00000163092ENST00000409605A4UGR9
ENSG00000163092ENST00000409728A4UGR9
ENSG00000163092ENST00000628543A4UGR9

Expression (GTEx)

0
50
100
150
200
250
300
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD
PA448499atenololChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
154545752004Xin repeats define a novel actin-binding motif.34
205205872010Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction.26
162057422006SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.9
258653522015A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.9
244759162015CCDD Phenotype Associated with a Small Chromosome 2 Deletion.1
293068972018Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.1

Citation

Dessen P

XIRP2 (xin actin binding repeat containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53666/xirp2-(xin-actin-binding-repeat-containing-2)