Identity
HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
ANKS4A,SANS
FUSION GENES
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: 124590
MIM: 607696
HGNC: 16356
Ensembl: ENSG00000182040
Variants:
dbSNP: 124590
ClinVar: 124590
TCGA: ENSG00000182040
COSMIC: USH1G
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000182040 | ENST00000579243 | J3KSN5 |
| ENSG00000182040 | ENST00000614341 | Q495M9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38139438 | 2023 | Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. | 0 |
| 38139438 | 2023 | Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. | 0 |
| 31566003 | 2021 | Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. | 5 |
| 34023904 | 2021 | SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes. | 11 |
| 31566003 | 2021 | Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. | 5 |
| 34023904 | 2021 | SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes. | 11 |
| 31644917 | 2019 | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | 22 |
| 31644917 | 2019 | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | 22 |
| 30029624 | 2018 | Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. | 8 |
| 30029624 | 2018 | Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. | 8 |
| 28137943 | 2017 | Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. | 27 |
| 28660889 | 2017 | Myosin 7 and its adaptors link cadherins to actin. | 33 |
| 28137943 | 2017 | Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. | 27 |
| 28660889 | 2017 | Myosin 7 and its adaptors link cadherins to actin. | 33 |
| 25255398 | 2015 | Nonsyndromic 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)
