SH3D19 (SH3 domain containing 19)

2012-11-01  

Identity

HGNC
SH3D19
LOCATION
4q31.3
LOCUSID
152503
ALIAS
EBP,EVE1,Eve-1,Kryn,SH3P19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 152503
MIM: 608674
HGNC: 30418
Ensembl: ENSG00000109686

Variants:

dbSNP: 152503
ClinVar: 152503
TCGA: ENSG00000109686
COSMIC: SH3D19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109686ENST00000304527Q5HYK7
ENSG00000109686ENST00000409252Q5HYK7
ENSG00000109686ENST00000409598Q5HYK7
ENSG00000109686ENST00000427414Q5HYK7
ENSG00000109686ENST00000462257A0A0U1RQN2
ENSG00000109686ENST00000514152Q5HYK7
ENSG00000109686ENST00000604030A0A0U1RQE4
ENSG00000109686ENST00000652233A0A494C1M0

Expression (GTEx)

0
50
100
150
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

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722

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
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.20
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.20
145511392004Identification and characterization of EBP, a novel EEN binding protein that inhibits Ras signaling and is recruited into the nucleus by the MLL-EEN fusion protein.8
152803792004ADAM binding protein Eve-1 is required for ectodomain shedding of epidermal growth factor receptor ligands.29
145511392004Identification and characterization of EBP, a novel EEN binding protein that inhibits Ras signaling and is recruited into the nucleus by the MLL-EEN fusion protein.8
152803792004ADAM binding protein Eve-1 is required for ectodomain shedding of epidermal growth factor receptor ligands.29

Citation

Dessen P

SH3D19 (SH3 domain containing 19)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53045/sh3d19-(sh3-domain-containing-19)