USHBP1 (USH1 protein network component harmonin binding protein 1)

2014-11-01  

Identity

HGNC
USHBP1
LOCATION
19p13.11
LOCUSID
83878
ALIAS
AIEBP,MCC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83878
MIM: 611810
HGNC: 24058
Ensembl: ENSG00000130307

Variants:

dbSNP: 83878
ClinVar: 83878
TCGA: ENSG00000130307
COSMIC: USHBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130307ENST00000252597Q8N6Y0
ENSG00000130307ENST00000252597A0A024R7H3
ENSG00000130307ENST00000324554Q8N8Y1
ENSG00000130307ENST00000431146G8JLM4
ENSG00000130307ENST00000594190M0R3B1
ENSG00000130307ENST00000597928Q8N6Y0
ENSG00000130307ENST00000598309M0R172

Expression (GTEx)

0
5
10
15
20
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
N/A

Citation

Dessen P

USHBP1 (USH1 protein network component harmonin binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75519/ushbp1