USH2A (usherin)

2014-11-01 Affiliation

Identity

HGNC

USH2A

LOCATION

1q41

LOCUSID

7399

ALIAS

RP39,US2,USH2,dJ1111A8.1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7399
MIM: 608400
HGNC: 12601
Ensembl: ENSG00000042781

Variants:

dbSNP: 7399
ClinVar: 7399
TCGA: ENSG00000042781
COSMIC: USH2A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000042781	ENST00000307340	O75445
ENSG00000042781	ENST00000366942	O75445

Expression (GTEx)

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 ID	Year	Title	Citations
18519826	2008	Molecular genetics of successful smoking cessation: convergent genome-wide association study results.	130
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17360538	2007	Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells.	84
15015129	2004	Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.	64
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18273898	2008	Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.	48
15325563	2004	Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.	47
20507924	2010	Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.	45
17405132	2007	Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.	43
18463160	2008	Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.	42

Citation

Dessen P

USH2A (usherin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75518/ush2a