USH1G (USH1 protein network component sans)

2014-06-01  

Identity

HGNC
USH1G
LOCATION
17q25.1
LOCUSID
124590
ALIAS
ANKS4A,SANS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 124590
MIM: 607696
HGNC: 16356
Ensembl: ENSG00000182040

Variants:

dbSNP: 124590
ClinVar: 124590
TCGA: ENSG00000182040
COSMIC: USH1G

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182040ENST00000579243J3KSN5
ENSG00000182040ENST00000614341Q495M9

Expression (GTEx)

0
5
10
15
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

References

Pubmed IDYearTitleCitations
156602262005Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.53
213110202011Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.43
201425022010The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.37
196839992010Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.33
162831412005A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.15
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
217675792011Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.11
286608892017Myosin 7 and its adaptors link cadherins to actin.11
281379432017Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.7
210440532010A frameshift mutation in SANS results in atypical Usher syndrome.6

Citation

Dessen P

USH1G (USH1 protein network component sans)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54018/ush1g