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CBLN2 cerebellin 2 precursor [ Homo sapiens (human) ]

Gene ID: 147381, updated on 3-May-2025
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 synaptic cleft. Predicted to be part of trans-synaptic protein complex. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, May 2025]
Expression
Biased expression in brain (RPKM 6.0), small intestine (RPKM 0.7) and 3 other tissues See more
Orthologs
NEW
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See CBLN2 in Genome Data Viewer
Location:
18q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (72536681..72638521, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (72758180..72859965, complement)
RS_2024_09 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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of synapse structure ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in spontaneous synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
involved_in spontaneous synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in trans-synaptic signaling, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
is_active_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in synaptic cleft IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic cleft ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of trans-synaptic protein complex IEA
Inferred from Electronic Annotation
more info
 
part_of trans-synaptic protein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
cerebellin-2

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

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_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