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CBLN2 cerebellin 2 precursor [ Homo sapiens (human) ]

Gene ID: 147381, updated on 8-Dec-2022

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
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Genomic context

See CBLN2 in Genome Data Viewer
Location:
18q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (72536681..72638521, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (72758180..72765836, 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 uncharacterized LOC105372189 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 11 Neighboring gene RNA, 5S ribosomal pseudogene 460 Neighboring gene neuropilin and tolloid like 1 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in maintenance of synapse structure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 

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_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
    UniProtKB/TrEMBL
    A0A024R380
    Related
    ENSP00000269503.4, ENST00000269503.9
    Conserved Domains (1) summary
    cl23878
    Location:86224
    C1q; C1q domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    UniProtKB/TrEMBL
    A0A024R380
    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
    UniProtKB/TrEMBL
    A0A024R380
    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
    UniProtKB/TrEMBL
    A0A024R380
    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
    UniProtKB/TrEMBL
    A0A024R380
    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
    UniProtKB/TrEMBL
    A0A024R380

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    72758180..72765836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)