DRP2 (dystrophin related protein 2)

2014-11-01  

Identity

HGNC
DRP2
LOCATION
Xq22.1
LOCUSID
1821
ALIAS
DRP-2

Other Information

Locus ID:

NCBI: 1821
MIM: 300052
HGNC: 3032
Ensembl: ENSG00000102385

Variants:

dbSNP: 1821
ClinVar: 1821
TCGA: ENSG00000102385
COSMIC: DRP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102385ENST00000372916F2Z3K8
ENSG00000102385ENST00000395209Q13474
ENSG00000102385ENST00000395209A0A024RCH3
ENSG00000102385ENST00000402866Q13474
ENSG00000102385ENST00000402866A0A024RCH3
ENSG00000102385ENST00000538510Q13474
ENSG00000102385ENST00000538510A0A024RCH3
ENSG00000102385ENST00000541709Q13474

Expression (GTEx)

0
50
100
150
200
250
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

References

Pubmed IDYearTitleCitations
385131942024Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.0
385131942024Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.0
239995282014Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.60
239995282014Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.60

Citation

Dessen P

DRP2 (dystrophin related protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62646/tumors-explorer/cancer-prone-explorer/js/web-card-gene.js