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
381394382023Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.0
381394382023Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.0
315660032021Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.5
340239042021SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.11
315660032021Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.5
340239042021SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.11
316449172019Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.22
316449172019Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.22
300296242018Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.8
300296242018Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.8
281379432017Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.27
286608892017Myosin 7 and its adaptors link cadherins to actin.33
281379432017Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.27
286608892017Myosin 7 and its adaptors link cadherins to actin.33
252553982015Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.10

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-(ush1-protein-network-component-sans)