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

Gene ID: 389084, updated on 5-Aug-2018

Summary

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 Vega:OTTHUMG00000133273
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
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See SNORC in Genome Data Viewer
Location:
2q37.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (232865678..232878704)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233733724..233741111)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene GRB10 interacting GYF protein 2 Neighboring gene potassium voltage-gated channel subfamily J member 13 Neighboring gene RNA, U6 small nuclear 107, pseudogene Neighboring gene neuronal guanine nucleotide exchange factor Neighboring gene uncharacterized LOC101928881 Neighboring gene neuraminidase 2

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163179, MGC163181

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell periphery IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001346120.1NP_001333049.1  protein SNORC isoform a precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC016692, BC049848, BQ575715
  2. NM_001346121.1NP_001333050.1  protein SNORC isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    BC049848, BI819489
  3. NM_001346122.1NP_001333051.1  protein SNORC isoform c precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to isoform a. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AC016692, BC049848, DB299926
    Consensus CDS
    CCDS2499.1
    UniProtKB/Swiss-Prot
    Q6UX34
    Related
    ENSP00000387130.1, ENST00000409533.5
    Conserved Domains (1) summary
    pfam15756
    Location:26121
    DUF4690; Domain of unknown function (DUF4690)
  4. NM_206895.2NP_996778.1  protein SNORC isoform c precursor

    See identical proteins and their annotated locations for NP_996778.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to isoform a. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    BC049848, BC130307, HY157100
    Consensus CDS
    CCDS2499.1
    UniProtKB/Swiss-Prot
    Q6UX34
    Related
    ENSP00000333208.2, ENST00000331342.4
    Conserved Domains (1) summary
    pfam15756
    Location:26121
    DUF4690; Domain of unknown function (DUF4690)

RNA

  1. NR_144371.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC016692, BC049848, DB478751
  2. NR_144372.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC049848, BI546341, DA922402
    Related
    ENST00000467665.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    232865678..232878704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004082.2XP_016859571.1  protein SNORC isoform X2

    UniProtKB/Swiss-Prot
    Q6UX34
    Conserved Domains (1) summary
    pfam15756
    Location:26121
    DUF4690; Domain of unknown function (DUF4690)
  2. XM_017004083.2XP_016859572.1  protein SNORC isoform X2

    UniProtKB/Swiss-Prot
    Q6UX34
    Conserved Domains (1) summary
    pfam15756
    Location:26121
    DUF4690; Domain of unknown function (DUF4690)
  3. XM_024452882.1XP_024308650.1  protein SNORC isoform X1

    Conserved Domains (1) summary
    pfam15756
    Location:125220
    DUF4690; Domain of unknown function (DUF4690)
  4. XM_017004084.2XP_016859573.1  protein SNORC isoform X2

    UniProtKB/Swiss-Prot
    Q6UX34
    Conserved Domains (1) summary
    pfam15756
    Location:26121
    DUF4690; Domain of unknown function (DUF4690)
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