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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USHBP1
USH1 protein network component harmonin binding protein 1
Chromosome 19 · 19p13.11
NCBI Gene: 83878Ensembl: ENSG00000130307.12HGNC: HGNC:24058UniProt: B4DUE8
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingPDZ domain bindingVaricose veinsinjuryposterior fusion of lumbosacral vertebrae-blepharoptosis syndromePosterior fusion of lumbosacral vertebrae - blepharoptosis
✦AI Summary

USHBP1 is a PDZ domain-binding protein located on chromosome 19 that functions as a component of the USH1 protein network. Structurally, USHBP1 interacts with PDZ domain-containing proteins, as evidenced by its binding to AIE-75 (harmonin), a PDZ-domain protein with three protein-protein interaction domains 1. This interaction suggests USHBP1 may function as part of a molecular anchoring or sorting complex. Clinically, USHBP1 has emerged as relevant in two disease contexts. First, it was identified as a stemness-related gene in hepatocellular carcinoma (HCC), where elevated USHBP1 expression correlates with poor prognosis; a five-gene survival model incorporating USHBP1 demonstrated high sensitivity and specificity for predicting HCC patient outcomes 2. Second, genetic variants in the USHBP1 region on chromosome 19.11 were associated with hippocampal volume variation in a genome-wide association study of schizophrenia, with allelic differences showing differential mRNA expression and associations with memory function 3. These findings suggest USHBP1 involvement in both neoplastic and neuropsychiatric pathogenesis, though the mechanistic basis remains unclear and warrants further investigation.

Sources cited
1
USHBP1 identified as mRNAsi-related gene with elevated expression in hepatocellular carcinoma tissues; included in prognostic survival model
PMID: 32644941
2
USHBP1 chromosomal region (19p13.11) associated with hippocampal volume variation and memory functioning in schizophrenia-related phenotype
PMID: 23805179
3
USHBP1 homologue (MCC2) binds to PDZ domain protein AIE-75 (harmonin) via C-terminal interaction
PMID: 11311560
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Varicose veinsOpen Targets
0.21Weak
injuryOpen Targets
0.12Weak
Posterior fusion of lumbosacral vertebrae - blepharoptosisOpen Targets
0.07Suggestive
posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.06Suggestive
hypertensionOpen Targets
0.05Suggestive
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.05Suggestive
multiple synostoses syndrome 2Open Targets
0.04Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.04Suggestive
Microcephaly - cervical spine fusion anomaliesOpen Targets
0.04Suggestive
microcephaly-cervical spine fusion anomalies syndromeOpen Targets
0.04Suggestive
retinopathyOpen Targets
0.04Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.04Suggestive
contractures, pterygia, and variable skeletal fusions syndrome 1BOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.03Suggestive
Skeletal dysplasia - intellectual disabilityOpen Targets
0.03Suggestive
skeletal dysplasia-intellectual disability syndromeOpen Targets
0.03Suggestive
malignant epithelial tumor of ovaryOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MCCC2Protein interaction96%USH1CProtein interaction93%BTDProtein interaction81%MMRN2Protein interaction75%
Tissue Expression6 tissues
Heart
100%
Lung
75%
Liver
27%
Ovary
24%
Brain
6%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
USHBP1MCCC2USH1CBTDMMRN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N6Y0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.71–1.06]
RankingsWhere USHBP1 stands among ~20K protein-coding genes
  • #13,114of 20,598
    Most Researched25
  • #10,640of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedUSHBP1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Weighted correlation gene network analysis reveals a new stemness index-related survival model for prognostic prediction in hepatocellular carcinoma.
PMID: 32644941
Aging (Albany NY) · 2020
1.00
2
A Genome-Wide Association Study Suggests Novel Loci Associated with a Schizophrenia-Related Brain-Based Phenotype.
PMID: 23805179
PLoS One · 2013
0.80
3
Adenocarcinoma of the Rectum in a 27-year-old Patient with Usher Syndrome : Is there a Genetic Correlation?
PMID: 29364104
Acta Gastroenterol Belg · 2017
0.60
4
Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75.
PMID: 11311560
Gene · 2001
0.40
5
[Identification of a novel MCC-homologue, MCC2, which interacts with PDZ-domain protein AIE-75].
PMID: 11766388
Hokkaido Igaku Zasshi · 2001
0.20