SSUH2 (ssu-2 homolog)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51066
Gene name Gene Name - the full gene name approved by the HGNC.
Ssu-2 homolog
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SSUH2
Synonyms (NCBI Gene) Gene synonyms aliases
C3orf32, SSU-2, fls485
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617479 24809 ENSG00000125046
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dentin Dysplasia dentin dysplasia type I N/A N/A GenCC