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    SNORC secondary ossification center associated regulator of chondrocyte maturation [ Homo sapiens (human) ]

    Gene ID: 389084, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SNORCprovided by HGNC
    Official Full Name
    secondary ossification center associated regulator of chondrocyte maturationprovided by HGNC
    Primary source
    HGNC:HGNC:33763
    See related
    Ensembl:ENSG00000182600 MIM:620882; AllianceGenome:HGNC:33763
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UNQ830; ASCL830; C2orf82
    Summary
    Predicted to be involved in cartilage development. Predicted to be located in several cellular components, including collagen-containing extracellular matrix; cytoplasm; and extracellular region. Predicted to be active in cell periphery. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SNORC in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232866451..232878700)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (233353135..233365383)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233731161..233743410)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene GRB10 interacting GYF protein 2 Neighboring gene Sharpr-MPRA regulatory region 7298 Neighboring gene potassium inwardly rectifying channel subfamily J member 13 Neighboring gene RNA, U6 small nuclear 107, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233736904-233737669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233755984-233756593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233756594-233757202 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233765119-233765744 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:233766250-233767449 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:233769412-233770057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233770058-233770702 Neighboring gene neuronal guanine nucleotide exchange factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17327 Neighboring gene uncharacterized LOC101928881 Neighboring gene neuraminidase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Biochemical characteristics of the chondrocyte-enriched SNORC protein and its transcriptional regulation by SOX9. Jaiswal PK, et al. Sci Rep, 2020 May 8. PMID 32385306, Free PMC Article
    2. Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder. Pineda-Cirera L, et al. Transl Psychiatry, 2019 Oct 3. PMID 31582733, Free PMC Article
    3. Snorc is a novel cartilage specific small membrane proteoglycan expressed in differentiating and articular chondrocytes. Heinonen J, et al. Osteoarthritis Cartilage, 2011 Aug. PMID 21624478
    4. Defects in chondrocyte maturation and secondary ossification in mouse knee joint epiphyses due to Snorc deficiency. Heinonen J, et al. Osteoarthritis Cartilage, 2017 Jul. PMID 28323137
    5. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Cross-Disorder Group of the Psychiatric Genomics Consortium. Lancet, 2013 Apr 20. PMID 23453885, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC163179, MGC163181

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell periphery ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in collagen-containing extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein SNORC
    Names
    Small Novel Rich in Cartilage
    secondary ossification center-associated regulator of chondrocyte maturation protein
    uncharacterized protein C2orf82

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001346120.3 → NP_001333049.2  protein SNORC isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC016692
      Consensus CDS
      CCDS2499.1
      UniProtKB/Swiss-Prot
      Q6UX34
      UniProtKB/TrEMBL
      A0A6M4NK13
      Related
      ENSP00000386804.1, ENST00000409230.5
      Conserved Domains (1) summary
      pfam15756
      Location:26 → 121
      DUF4690; Domain of unknown function (DUF4690)

    2. NM_001346121.2 → NP_001333050.2  protein SNORC isoform b

      Status: VALIDATED

      Source sequence(s)
      AC016692

    3. NM_001346122.2 → NP_001333051.1  protein SNORC isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC016692
      Consensus CDS
      CCDS2499.1
      UniProtKB/Swiss-Prot
      Q6UX34
      UniProtKB/TrEMBL
      A0A6M4NK13
      Related
      ENSP00000387130.1, ENST00000409533.5
      Conserved Domains (1) summary
      pfam15756
      Location:26 → 121
      DUF4690; Domain of unknown function (DUF4690)

    4. NM_001394206.1 → NP_001381135.1  protein SNORC isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC016692
      Consensus CDS
      CCDS2499.1
      UniProtKB/Swiss-Prot
      Q6UX34
      UniProtKB/TrEMBL
      A0A6M4NK13
      Related
      ENSP00000333208.2, ENST00000331342.5
      Conserved Domains (1) summary
      pfam15756
      Location:26 → 121
      DUF4690; Domain of unknown function (DUF4690)

    5. NM_001394207.1 → NP_001381136.1  protein SNORC isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC016692
      Consensus CDS
      CCDS2499.1
      UniProtKB/Swiss-Prot
      Q6UX34
      UniProtKB/TrEMBL
      A0A6M4NK13
      Conserved Domains (1) summary
      pfam15756
      Location:26 → 121
      DUF4690; Domain of unknown function (DUF4690)

    6. NM_206895.3 → NP_996778.1  protein SNORC isoform c precursor

      See identical proteins and their annotated locations for NP_996778.1

      Status: VALIDATED

      Source sequence(s)
      AC016692, BC049848, BC130307, HY157100
      Consensus CDS
      CCDS2499.1
      UniProtKB/Swiss-Prot
      Q6UX34
      UniProtKB/TrEMBL
      A0A6M4NK13
      Related
      ENSP00000511992.1, ENST00000695538.1
      Conserved Domains (1) summary
      pfam15756
      Location:26 → 121
      DUF4690; Domain of unknown function (DUF4690)

    RNA

    1. NR_144371.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC016692, BC049848, DB478751

    2. NR_144372.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC049848, DA922402
      Related
      ENST00000467665.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      232866451..232878700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004083.3 → XP_016859572.1  protein SNORC isoform X1

      UniProtKB/Swiss-Prot
      Q6UX34
      UniProtKB/TrEMBL
      A0A6M4NK13
      Conserved Domains (1) summary
      pfam15756
      Location:26 → 121
      DUF4690; Domain of unknown function (DUF4690)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      233353135..233365383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341984.1 → XP_054197959.1  protein SNORC isoform X1

      UniProtKB/Swiss-Prot
      Q6UX34
      UniProtKB/TrEMBL
      A0A6M4NK13
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UX34.1 GenPept UniProtKB/Swiss-Prot:Q6UX34

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