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Aliases for CBLN3 Gene

Aliases for CBLN3 Gene

  • Cerebellin 3 Precursor 2 3 5
  • 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. An important paralog of this gene is CBLN2.

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

Enhancers for CBLN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F024422 1.6 FANTOM5 Ensembl ENCODE 63.6 +3.3 3302 10.5 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 CBLN3 KHNYN NYNRIN TINF2 ADCY4 NEDD8 NEDD8-MDP1 SDR39U1 IRF9 PSME1
GH14F024417 0.2 ENCODE 17.7 +12.3 12254 1.5 ELF3 ARID4B RAD21 ZNF48 THAP11 HMG20B PPARG KAT8 NFIL3 RAD51 CBLN3 ADCY4 KHNYN NYNRIN
GH14F024364 0.2 ENCODE 11.9 +62.9 62948 6.1 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 KHNYN ADCY4 RIPK3 NYNRIN RNA5SP383 CBLN3 CIDEB TGM1 LOC102724814 LTB4R
GH14F024371 0.5 ENCODE 11.9 +58.3 58326 1.5 OSR2 CTCF NFIA PRDM10 ZNF48 ZIC2 ZNF558 ZNF423 NYNRIN CBLN3 KHNYN ADCY4 TGM1 NFATC4
GH14F024397 1.1 Ensembl ENCODE 11.6 +30.1 30139 6.7 KLF17 PLRG1 ZNF48 RARA GLIS2 FOS SP3 CEBPB NFIL3 ZFP69B NYNRIN KHNYN ADCY4 RIPK3 CBLN3 NFATC4 LTB4R
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CBLN3 on UCSC Golden Path with GeneCards custom track

Promoters for CBLN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000651674 454 1801 HDGF CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF263
ENSR00001787977 -946 201 HDGF ARID4B ZNF48 ZNF2 GLIS2 ZNF143 KLF7 PAF1 ZNF263 SP3

Genomic Location for CBLN3 Gene

Chromosome:
14
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

Genes around CBLN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBLN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

Post-translational modifications for CBLN3 Gene

  • Glycosylation at Asn 90
  • 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 & Families 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 :
  • Contains 1 C1q domain.
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.
genes like me logo Genes that share phenotypes with CBLN3: view

Animal Models for CBLN3 Gene

MGI Knock Outs for CBLN3:

Animal Model Products

  • Taconic Biosciences Mouse Models for CBLN3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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
endoplasmic reticulum 4
extracellular 4
golgi apparatus 3
nucleus 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 & Interactions for CBLN3 Gene

SuperPathways for CBLN3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CBLN3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CBLN3 Gene

Drugs & Compounds for CBLN3 Gene

(3) Drugs for CBLN3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CBLN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CBLN3: view

Transcripts for CBLN3 Gene

mRNA/cDNA for CBLN3 Gene

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

Unigene Clusters for CBLN3 Gene

Cerebellin 3 precursor:
Representative Sequences:

Inhibitory RNA Products

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 (x21.5) and Brain - Cerebellum (x19.5).

NURSA nuclear receptor signaling pathways regulating expression of CBLN3 Gene:

CBLN3

SOURCE GeneReport for Unigene cluster for CBLN3 Gene:

Hs.207603
genes like me logo Genes that share expression patterns with CBLN3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners 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 34 35
  • 98.86 (n)
dog
(Canis familiaris)
Mammalia CBLN3 34 35
  • 89.59 (n)
rat
(Rattus norvegicus)
Mammalia Cbln3 34
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia CBLN3 34 35
  • 89.11 (n)
mouse
(Mus musculus)
Mammalia Cbln3 34 16 35
  • 88.83 (n)
oppossum
(Monodelphis domestica)
Mammalia CBLN3 35
  • 65 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BX664707.1 35
  • 55 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for CBLN3 was found in the sources mined by GeneCards:
  • 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

(5) 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
rs10140312 -- 24,428,000(+) GGGAG(C/G)CCAGT intron-variant, upstream-variant-2KB
rs10143703 -- 24,429,149(+) CTGAT(A/C)GTCTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10146358 -- 24,430,267(+) CCGAC(C/G)GAGAG intron-variant, upstream-variant-2KB
rs10146759 -- 24,429,988(+) CCCCG(C/T)TGGGT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs112261621 -- 24,429,111(+) GTTTC(C/T)GCTCC intron-variant, upstream-variant-2KB, utr-variant-5-prime

Variation tolerance for CBLN3 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBLN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

Relevant External Links for CBLN3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBLN3

No disorders were found for CBLN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4 64
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 64
  4. Functional roles of neuropeptides in cerebellar circuits. (PMID: 19361475) Ito M. (Neuroscience 2009) 22 64
  5. Cbln1 is essential for interaction-dependent secretion of Cbln3. (PMID: 17030622) Bao D. … Morgan J.I. (Mol. Cell. Biol. 2006) 3 64

Products for CBLN3 Gene

Sources for CBLN3 Gene

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