SNORC (secondary ossification center associated regulator of chondrocyte maturation)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
389084
Gene name Gene Name - the full gene name approved by the HGNC.
Secondary ossification center associated regulator of chondrocyte maturation
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNORC
Synonyms (NCBI Gene) Gene synonyms aliases
ASCL830, C2orf82, UNQ830
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
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(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0016020 Component Membrane IEA
GO:0051216 Process Cartilage development 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
620882 33763 ENSG00000182600
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6UX34
Protein name Protein SNORC (Secondary ossification center-associated regulator of chondrocyte maturation protein)
Protein function Plays a role in the regulation of chondrocyte maturation and postnatal endochondral ossification. May inhibit cell growth stimulation induced by FGF2.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15756 DUF4690 26 → 121 Small Novel Rich in Cartilage Family
Tissue specificity TISSUE SPECIFICITY: Expressed in cartilage. {ECO:0000269|PubMed:21624478}.
Sequence
Sequence length 121
Interactions View interactions
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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
Schizophrenia Schizophrenia N/A N/A GWAS