SSUH2 (ssu-2 homolog)

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Gene Gene information from NCBI Gene database.
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Entrez ID 51066
Gene name Ssu-2 homolog
Gene symbol SSUH2
Synonyms (NCBI Gene)
C3orf32SSU-2fls485
Chromosome 3
Chromosome location 3p25.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 27680507
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 20205943
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
617479 24809 ENSG00000125046
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2M2
Protein name Protein SSUH2 homolog (Protein ssu-2 homolog)
Protein function Plays a role in odontogenesis.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in enterocytes of small and large intestinal mucosa (at protein level). Expressed in chromaffine and interstitial cells. Expressed in peripheral blood and gingival cells (PubMed:27680507). {ECO:0000269|PubMed:20205943, ECO:00
Sequence 
MPSPVGLLRALPLPWPQFLACTLRRLAGPRESTGPSQKPPPLCSVPCRVPAMTEEVAREA
LLSFVDSKCCYSSTVAGDLVIQELKRQTLCRYRLETFSESRISEWTFQPFTNHSVDGPQR
GASPRLWDIKVQGPPMFQEDTRKFQVPHSSLVKECHKCHGRGRYKCSGCHGAGTVRCPSC
CGAKRKAKQSRRCQLCAGSGRRRCSTCSGRGNKTCATCKGEKKLLHFIQLVIMWKNSLFE
FVSEHRLNCPRELLAKAKGENLFKDENSVVYPIVDFPLRDISLASQRGIAEHSAALASRA
RVLQQRQTIELIPLTEVHYWYQGKTYVYYIYGTDHQVYAVDYPERYCCGCTIV
Sequence length 353
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTISM SPECTRUM DISORDER — GWAS catalog 32747698
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA TYPE I — GWAS catalog, Orphanet
GWAS catalog, Orphanet 		27680507, 27680507
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA, TYPE 1 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Dentin dysplasia type I Dentin Dysplasia Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dentin dysplasia, type 1 Dentin Dysplasia ORPHANET_DG 27680507
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dentin dysplasia, type 1 Dentin Dysplasia BEFREE 27680507
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long QT Syndrome Long QT Syndrome CLINVAR_DG 10746614, 11431690, 11756609, 11805270, 12807393, 12939441, 14633633, 15318349, 15580566, 18583131, 18930476, 19380584, 20472890, 21404291
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LONG QT SYNDROME 9 (disorder) Long QT Syndrome CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
MYOPATHY, DISTAL, TATEYAMA TYPE Distal myopathy CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
RIPPLING MUSCLE DISEASE 2 (disorder) Rippling muscle disease CLINVAR_DG 10746614, 11431690, 11756609, 11805270, 12807393, 12839838, 12939441, 14633633, 15318349, 15580566, 18930476, 19380584, 20472890, 21404291, 27854218
★★★★★
★☆☆☆☆
Found in Text Mining only
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TAF10 2 shared diseasesCardiomyopathy, Long qt syndrome 2 shared evidence sourcesDisgenet (Cardiomyopathy), Disgenet (Long qt syndrome) Related via 2 shared diseases including Cardiomyopathy, Long qt syndrome — evidence mostly Disgenet. VPS4B 1 shared diseaseDentin dysplasia 3 shared evidence sourcesDisgenet (Dentin dysplasia), Orphanet (Dentin dysplasia), GWAS catalog (Dentin dysplasia) Related via 1 shared disease including Dentin dysplasia — evidence mostly Disgenet. OXTR 3 shared diseasesCardiomyopathy, Long qt syndrome, Rippling muscle disease 3 shared evidence sourcesDisgenet (Cardiomyopathy), Disgenet (Long qt syndrome), Disgenet (Rippling muscle disease) Related via 3 shared diseases including Cardiomyopathy, Long qt syndrome — evidence mostly Disgenet. CALM3 2 shared diseasesCardiomyopathy, Long qt syndrome 2 shared evidence sourcesDisgenet (Cardiomyopathy), Disgenet (Long qt syndrome) Related via 2 shared diseases including Cardiomyopathy, Long qt syndrome — evidence mostly Disgenet. MYL3 2 shared diseasesCardiomyopathy, Long qt syndrome 2 shared evidence sourcesDisgenet (Cardiomyopathy), Disgenet (Long qt syndrome) Related via 2 shared diseases including Cardiomyopathy, Long qt syndrome — evidence mostly Disgenet.
Dilated cardiomyopathy Linked via 2 of 5 related genesTAF10, MYL3 Hypertrophic cardiomyopathy Linked via 2 of 5 related genesOXTR, MYL3 Non-small-cell lung carcinoma Linked via 1 of 5 related genesOXTR Chromosome 3p25 monosomy Linked via 1 of 5 related genesOXTR Cognition disorder Linked via 1 of 5 related genesOXTR