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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
USH1G
USH1 protein network component sans
Chromosome 17 Β· 17q25.1
NCBI Gene: 124590Ensembl: ENSG00000182040.9HGNC: HGNC:16356UniProt: B4DL95
44PubMed Papers
21Diseases
0Drugs
60Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingspectrin bindingidentical protein bindingsensory perception of soundUsher syndrome type 1Usher syndromedeafnessHearing impairment
✦AI Summary

USH1G encodes SANS, a multifunctional scaffolding protein central to both splicing and mechanotransduction. In the nucleus, USH1G regulates pre-mRNA splicing by controlling the release and transfer of U4/U6.U5 tri-snRNP complexes from Cajal bodies to nuclear speckles, facilitating pre-catalytic spliceosome assembly 1. USH1G also participates in snRNP recycling during splicing 2. Notably, USH1G functions as a scaffold within a mechanotransduction network with USH1C, CDH23, and MYO7A in cochlear hair cells, where these proteins form condensed assemblies via liquid-liquid phase separation at stereocilia tip-link densities 3. This complex is essential for normal hearing and hair cell bundle development and maintenance. USH1G involvement in MAGI2-mediated endocytosis regulation further expands its functional repertoire 4. Pathogenic USH1G variants cause Usher syndrome type 1G, characterized by combined hearing loss and progressive vision loss 5. However, USH1G mutations appear relatively rare, representing a minor contributor to overall Usher syndrome pathogenesis compared to MYO7A and USH1C 6. Digenic inheritance involving USH1G and PCDH15 has been documented in non-syndromic hearing impairment, demonstrating functional epistasis between mechanotransduction components 7.

Sources cited
1
USH1G regulates U4/U6.U5 tri-snRNP complex release from Cajal bodies and participates in snRNP recycling during splicing
PMID: 34023904
2
USH1G participates in regulating MAGI2-mediated endocytosis
PMID: 24608321
3
MYO7A/USH1C/USH1G form condensed molecular assemblies via liquid-liquid phase separation at stereocilia tip-link densities
PMID: 31644917
4
USH1G (SANS) functions in pre-mRNA splicing of retinal genes including other USH genes
PMID: 39930191
5
USH1G is one of nine genes associated with Usher syndrome, with USH1G pathogenic variants causing USH1
PMID: 35353227
6
USH1G mutations were not found in a UK cohort of 172 Usher patients, indicating minor contribution to pathogenesis compared to MYO7A and USH1C
PMID: 22135276
7
Digenic inheritance of PCDH15 and USH1G mutations can cause profound non-syndromic hearing impairment, demonstrating epistasis between mechanotransduction genes
PMID: 30029624
8
USH1G screening in Spanish Usher syndrome patients detected minimal mutations, supporting its minor role in disease pathogenesis
PMID: 17896313
Disease Associationsβ“˜21
Usher syndrome type 1Open Targets
0.74Strong
Usher syndromeOpen Targets
0.72Strong
deafnessOpen Targets
0.48Moderate
Hearing impairmentOpen Targets
0.43Moderate
hearing lossOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
hearing loss, autosomal recessiveOpen Targets
0.34Weak
Rare genetic deafnessOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Retinal dystrophyOpen Targets
0.17Weak
retinitis pigmentosa-deafness syndromeOpen Targets
0.16Weak
optic atrophyOpen Targets
0.15Weak
autosomal recessive nonsyndromic hearing loss 18AOpen Targets
0.12Weak
autismOpen Targets
0.07Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.07Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.06Suggestive
autism spectrum disorderOpen Targets
0.06Suggestive
hearing loss, autosomal dominant 87Open Targets
0.05Suggestive
FRAXE intellectual disabilityOpen Targets
0.05Suggestive
hearing loss, autosomal dominant 80Open Targets
0.05Suggestive
Usher syndrome 1GUniProt
Pathogenic Variants60
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)Pathogenic
Rare genetic deafness|not provided|Usher syndrome type 1G
β˜…β˜…β˜†β˜†2026β†’ Residue 458
NM_173477.5(USH1G):c.111_112del (p.Trp38fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 38
NM_173477.5(USH1G):c.723_726dup (p.Ser243fs)Pathogenic
Usher syndrome type 1G|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 243
NM_173477.5(USH1G):c.164+5G>APathogenic
not provided|Usher syndrome type 1G
β˜…β˜…β˜†β˜†2026
NM_173477.5(USH1G):c.1162G>T (p.Glu388Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 388
NM_173477.5(USH1G):c.84dup (p.Asp29fs)Pathogenic
not provided|Usher syndrome type 1G
β˜…β˜…β˜†β˜†2025β†’ Residue 29
NM_173477.5(USH1G):c.742C>T (p.Gln248Ter)Pathogenic
not provided|Usher syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 248
NM_173477.5(USH1G):c.275G>A (p.Trp92Ter)Pathogenic
not provided|Usher syndrome type 1G
β˜…β˜…β˜†β˜†2024β†’ Residue 92
NM_173477.5(USH1G):c.1004dup (p.Leu336fs)Pathogenic
not provided|Usher syndrome type 1G
β˜…β˜…β˜†β˜†2024β†’ Residue 336
NM_173477.5(USH1G):c.387dup (p.Lys130fs)Pathogenic
Usher syndrome type 1G
β˜…β˜…β˜†β˜†2024β†’ Residue 130
NM_173477.5(USH1G):c.1311del (p.Lys438fs)Pathogenic
not provided|Usher syndrome type 1G
β˜…β˜…β˜†β˜†2023β†’ Residue 438
NM_173477.5(USH1G):c.208_209insTC (p.His70fs)Pathogenic
not provided|Usher syndrome type 1
β˜…β˜…β˜†β˜†2023β†’ Residue 70
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)Pathogenic
not provided|Usher syndrome type 1G
β˜…β˜…β˜†β˜†2021β†’ Residue 64
NM_173477.5(USH1G):c.248_249delinsAA (p.Phe83Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 83
NM_173477.5(USH1G):c.1004del (p.Gly335fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 335
NM_173477.5(USH1G):c.146_147insAG (p.Leu50fs)Pathogenic
Usher syndrome type 1G
β˜…β˜†β˜†β˜†2025β†’ Residue 50
NM_173477.5(USH1G):c.104_107dup (p.Leu37fs)Pathogenic
Usher syndrome type 1G
β˜…β˜†β˜†β˜†2025β†’ Residue 37
NM_173477.5(USH1G):c.108del (p.Leu37fs)Likely pathogenic
Usher syndrome type 1G
β˜…β˜†β˜†β˜†2025β†’ Residue 37
NM_173477.5(USH1G):c.1219_1220insGGGC (p.Leu407fs)Likely pathogenic
Usher syndrome type 1G
β˜…β˜†β˜†β˜†2025β†’ Residue 407
NM_173477.5(USH1G):c.801G>A (p.Trp267Ter)Pathogenic
Usher syndrome type 1G
β˜…β˜†β˜†β˜†2025β†’ Residue 267
View on ClinVar β†—
Related Genes
MYO7BProtein interaction100%MYO15AProtein interaction100%PDZD7Protein interaction100%TMC1Protein interaction100%PCDH15Protein interaction79%CIB2Protein interaction77%
Tissue Expression6 tissues
Ovary
100%
Brain
3%
Bone Marrow
2%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
USH1GMYO7BMYO15APDZD7TMC1PCDH15CIB2
PROTEIN STRUCTURE
Preparing viewer…
PDB3K1R Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.21LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.64–1.21]
RankingsWhere USH1G stands among ~20K protein-coding genes
  • #9,674of 20,598
    Most Researched44
  • #1,174of 5,498
    Most Pathogenic Variants60 Β· top quartile
  • #12,670of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedUSH1G
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
PMID: 22135276
J Med Genet Β· 2012
1.00
2
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
PMID: 35353227
Hum Genet Β· 2022
0.90
3
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
PMID: 25404053
Orphanet J Rare Dis Β· 2014
0.80
4
PMID: 20301442
0.70
5
Genetic architecture of Meniere's disease.
PMID: 31874721
Hear Res Β· 2020
0.60