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

Gene ID: 389084, updated on 5-Mar-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 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 collagen-containing extracellular matrix; cytoplasm; and extracellular region. Predicted to be integral component of membrane. Predicted to be active in cell periphery. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
2q37.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232866451..232878700)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (233353135..233365383)
105.20220307 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
  • 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_2023_10

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

Gene LinkOut

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