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Aliases for CBLN3 Gene

Aliases for CBLN3 Gene

  • Cerebellin 3 Precursor 2 3
  • Cerebellin-3 3
  • PRO1486 3

External Ids for CBLN3 Gene

Previous GeneCards Identifiers for CBLN3 Gene

  • GC00U907483
  • GC14U900191
  • GC14M023967
  • GC14M024895
  • GC14M005010

Summaries for CBLN3 Gene

Entrez Gene Summary for CBLN3 Gene

  • Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]

GeneCards Summary for CBLN3 Gene

CBLN3 (Cerebellin 3 Precursor) is a Protein Coding gene. Diseases associated with CBLN3 include spinocerebellar degeneration and olivopontocerebellar atrophy. An important paralog of this gene is C1QL4.

UniProtKB/Swiss-Prot for CBLN3 Gene

  • May be involved in synaptic functions in the CNS.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBLN3 Gene

Genomics for CBLN3 Gene

Regulatory Elements for CBLN3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CBLN3 Gene

Start:
24,426,532 bp from pter
End:
24,430,954 bp from pter
Size:
4,423 bases
Orientation:
Minus strand

Genomic View for CBLN3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CBLN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBLN3 Gene

Proteins for CBLN3 Gene

  • Protein details for CBLN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UW01-CBLN3_HUMAN
    Recommended name:
    Cerebellin-3
    Protein Accession:
    Q6UW01
    Secondary Accessions:

    Protein attributes for CBLN3 Gene

    Size:
    205 amino acids
    Molecular mass:
    21521 Da
    Quaternary structure:
    • Heterohexamer; disulfide-linked heterotrimers. Interacts with CBLN1. May also form oligomers with CBLN2 AND CBLN4 (By similarity).

neXtProt entry for CBLN3 Gene

Proteomics data for CBLN3 Gene at MOPED

Post-translational modifications for CBLN3 Gene

  • Glycosylation at Asn90
  • Modification sites at PhosphoSitePlus

Other Protein References for CBLN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CBLN3 Gene

Domains for CBLN3 Gene

Protein Domains for CBLN3 Gene

Suggested Antigen Peptide Sequences for CBLN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UW01

UniProtKB/Swiss-Prot:

CBLN3_HUMAN :
  • Q6UW01
Domain:
  • Contains 1 C1q domain.
genes like me logo Genes that share domains with CBLN3: view

No data available for Gene Families for CBLN3 Gene

Function for CBLN3 Gene

Molecular function for CBLN3 Gene

UniProtKB/Swiss-Prot Function: May be involved in synaptic functions in the CNS.

Gene Ontology (GO) - Molecular Function for CBLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CBLN3: view

Phenotypes for CBLN3 Gene

genes like me logo Genes that share phenotypes with CBLN3: view

Animal Models for CBLN3 Gene

MGI Knock Outs for CBLN3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CBLN3 Gene

Localization for CBLN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBLN3 Gene

Endoplasmic reticulum. Golgi apparatus, cis-Golgi network. Secreted. Cell junction, synapse. Note=In the absence of CBLN1, remains in the endoplasmic reticulum/cis-Golgi apparatus. Partial secretion depends on a association with CBLN1 and maybe CBLN4, but not on CBLN2 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBLN3 Gene COMPARTMENTS Subcellular localization image for CBLN3 gene
Compartment Confidence
extracellular 3
golgi apparatus 3
endoplasmic reticulum 2
cytosol 1

Gene Ontology (GO) - Cellular Components for CBLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with CBLN3: view

Pathways for CBLN3 Gene

SuperPathways for CBLN3 Gene

No Data Available

Interacting Proteins for CBLN3 Gene

Gene Ontology (GO) - Biological Process for CBLN3 Gene

None

No data available for Pathways by source for CBLN3 Gene

Compounds for CBLN3 Gene

(5) Novoseek inferred chemical compound relationships for CBLN3 Gene

Compound -log(P) Hits PubMed IDs
catecholamine 41 3
corticosterone 40.9 1
epinephrine 31.7 2
norepinephrine 23.6 3
steroid 19.6 3
genes like me logo Genes that share compounds with CBLN3: view

Transcripts for CBLN3 Gene

mRNA/cDNA for CBLN3 Gene

(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CBLN3 Gene

Cerebellin 3 precursor:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CBLN3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CBLN3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBLN3 Gene

No ASD Table

Relevant External Links for CBLN3 Gene

GeneLoc Exon Structure for
CBLN3
ECgene alternative splicing isoforms for
CBLN3

Expression for CBLN3 Gene

mRNA expression in normal human tissues for CBLN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBLN3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (21.5) and Brain - Cerebellum (19.5).

SOURCE GeneReport for Unigene cluster for CBLN3 Gene Hs.207603

genes like me logo Genes that share expressions with CBLN3: view

In Situ Assay Products

No data available for Protein expression and mRNA Expression by UniProt/SwissProt for CBLN3 Gene

Orthologs for CBLN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBLN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBLN3 35
  • 98.86 (n)
  • 100 (a)
CBLN3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBLN3 35
  • 89.11 (n)
  • 93.17 (a)
CBLN3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBLN3 35
  • 89.59 (n)
  • 94.15 (a)
CBLN3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbln3 35
  • 88.83 (n)
  • 97.16 (a)
Cbln3 16
Cbln3 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CBLN3 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbln3 35
  • 89.58 (n)
  • 97.16 (a)
zebrafish
(Danio rerio)
Actinopterygii BX664707.1 36
  • 55 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for CBLN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBLN3 Gene

ENSEMBL:
Gene Tree for CBLN3 (if available)
TreeFam:
Gene Tree for CBLN3 (if available)

Paralogs for CBLN3 Gene

Selected SIMAP similar genes for CBLN3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CBLN3: view

Variants for CBLN3 Gene

Sequence variations from dbSNP and Humsavar for CBLN3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs60906547 -- 24,427,194(+) CATGT(A/T)CAGTC utr-variant-3-prime
rs71405847 -- 24,426,828(+) ACAGC(A/C)CAGAT utr-variant-3-prime
rs76708725 -- 24,426,144(+) TAAAA(A/C)ATTCA downstream-variant-500B
rs138086189 -- 24,426,426(+) CAGAT(G/T)GTTCC downstream-variant-500B
rs139920563 -- 24,427,112(+) AGAGT(C/T)CATCT utr-variant-3-prime

Relevant External Links for CBLN3 Gene

HapMap Linkage Disequilibrium report
CBLN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CBLN3 Gene

Disorders for CBLN3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for CBLN3 Gene including...

Search for CBLN3 Gene in MalaCards »
genes like me logo Genes that share disorders with CBLN3: view

No data available for UniProtKB/Swiss-Prot for CBLN3 Gene

Publications for CBLN3 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4
  3. Cbln1 is essential for interaction-dependent secretion of Cbln3. (PMID: 17030622) Bao D. … Morgan J.I. (Mol. Cell. Biol. 2006) 3
  4. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3
  5. Precerebellin is a cerebellum-specific protein with similarity to the globular domain of complement C1q B chain. (PMID: 1704129) Urade Y. … Morgan J.I. (Proc. Natl. Acad. Sci. U.S.A. 1991) 23

Products for CBLN3 Gene

Sources for CBLN3 Gene

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