CBLN2 cerebellin 2 precursor [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hominini-specific regulation of CBLN2 increases prefrontal spinogenesis.
Title: Hominini-specific regulation of CBLN2 increases prefrontal spinogenesis.
an important role of CBLN2 in PAH onset despite different etiologies
Title: CBLN2 rs2217560 was Associated with Pulmonary Arterial Hypertension in Systemic Lupus Erythematosus.
Single nucleotide polymorphisms in CBLN2 gene is associated with pulmonary arterial hypertension.
Title: Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Transgenic Cbln2 can exhibit functional redundancy with Cbln1 in the cerebellum, but it does not have the same properties as Cbln1 in thalamic neurons.
Title: Comparison of Cbln1 and Cbln2 functions using transgenic and knockout mice.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18S1269 (e-PCR)
- UniSTS:1850

RH15985 (e-PCR)
- UniSTS:67277

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

General protein information

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Preferred Names: cerebellin-2

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.