SSUH2 (ssu-2 homolog)

Gene

• Entrez ID: 51066
• Gene name: Ssu-2 homolog
• Gene symbol: SSUH2
• Synonyms (NCBI Gene): C3orf32, SSU-2, fls485
• Chromosome: 3
• Chromosome location: 3p25.3

Gene ontology (GO)

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
GO:0031072	Function	Heat shock protein binding	IEA
GO:0042476	Process	Odontogenesis	IMP	27680507
GO:0051082	Function	Unfolded protein binding	IEA

Other IDs

• MIM: 617479
• HGNC: 24809
• e!Ensembl: ENSG00000125046

Protein

• UniProt ID: Q9Y2M2
• Protein name: Protein SSUH2 homolog (Protein ssu-2 homolog)
• Protein function: Plays a role in odontogenesis.
• 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

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA TYPE I	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LONG QT SYNDROME 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLING MUSCLE DISEASE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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	BEFREE	27680507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dysplasia, type 1	Dentin Dysplasia	ORPHANET_DG	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