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    CBLN2 cerebellin 2 precursor [ Homo sapiens (human) ]

    Gene ID: 147381, updated on 5-Mar-2024

    Summary

    Official Symbol
    CBLN2provided by HGNC
    Official Full Name
    cerebellin 2 precursorprovided by HGNC
    Primary source
    HGNC:HGNC:1544
    See related
    Ensembl:ENSG00000141668 MIM:600433; AllianceGenome:HGNC:1544
    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
    Summary
    Predicted to be involved in maintenance of synapse structure and spontaneous synaptic transmission. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in extracellular space. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 6.0), small intestine (RPKM 0.7) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CBLN2 in Genome Data Viewer
    Location:
    18q22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (72536681..72638521, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (72758180..72859965, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (70203916..70211577, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102725148 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:69673999-69675198 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:69758554-69759075 Neighboring gene uncharacterized LOC105372189 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:70100942-70102141 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13489 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:70358950-70359733 Neighboring gene RNA, 5S ribosomal pseudogene 460 Neighboring gene neuropilin and tolloid like 1 Neighboring gene NANOG hESC enhancer GRCh37_chr18:70515754-70516255 Neighboring gene microRNA 548av

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in maintenance of synapse structure IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in maintenance of synapse structure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of presynapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spontaneous synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synapse organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_182511.4NP_872317.1  cerebellin-2 precursor

      See identical proteins and their annotated locations for NP_872317.1

      Status: VALIDATED

      Source sequence(s)
      AY359074, BC110843, BX409761
      Consensus CDS
      CCDS11999.1
      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
      Related
      ENSP00000269503.4, ENST00000269503.9
      Conserved Domains (1) summary
      cl23878
      Location:86224
      C1q; C1q domain

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      72536681..72638521 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722394.4XP_006722457.1  cerebellin-2 isoform X1

      See identical proteins and their annotated locations for XP_006722457.1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
      Conserved Domains (1) summary
      cl23878
      Location:86224
      C1q; C1q domain
    2. XM_017025559.2XP_016881048.1  cerebellin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
      Conserved Domains (1) summary
      cl23878
      Location:86224
      C1q; C1q domain
    3. XM_011525824.3XP_011524126.1  cerebellin-2 isoform X1

      See identical proteins and their annotated locations for XP_011524126.1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
      Conserved Domains (1) summary
      cl23878
      Location:86224
      C1q; C1q domain
    4. XM_017025560.2XP_016881049.1  cerebellin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
      Related
      ENSP00000463771.1, ENST00000585159.5
      Conserved Domains (1) summary
      cl23878
      Location:86224
      C1q; C1q domain
    5. XM_047437303.1XP_047293259.1  cerebellin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      72758180..72859965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318210.1XP_054174185.1  cerebellin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
    2. XM_054318211.1XP_054174186.1  cerebellin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
    3. XM_054318212.1XP_054174187.1  cerebellin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8
    4. XM_054318213.1XP_054174188.1  cerebellin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q53Z56, Q8IUK8