CBLN4 cerebellin 4 precursor [Homo sapiens (human)] - Gene

Summary

Official Symbol: CBLN4provided by HGNC
Official Full Name: cerebellin 4 precursorprovided by HGNC
Primary source: HGNC:HGNC:16231
See related: Ensembl:ENSG00000054803 MIM:615029; AllianceGenome:HGNC:16231
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CBLNL1
Summary: This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]
Expression: Biased expression in adrenal (RPKM 11.4), brain (RPKM 6.3) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (55997357..56005519, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (57772334..57780496, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (54572413..54580575, complement)

Chromosome 20 - NC_000020.11 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?

Submit: New GeneRIF Correction

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

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

NoName (e-PCR)
- UniSTS:481407

CBLNL1_4519 (e-PCR)
- UniSTS:462793

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in inhibitory synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein secretion	IEA Inferred from Electronic Annotation more info
involved_in trans-synaptic signaling, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
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
located_in synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cerebellin-4

Names: cerebellin precursor-like 1; cerebellin-like glycoprotein 1

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.