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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.

Additional gene information for CBLN3 Gene

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

Genomics for CBLN3 Gene

GeneHancer (GH) Regulatory Elements for CBLN3 Gene

Promoters and enhancers for CBLN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J024422 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 713.6 +3.2 3209 10.3 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 NFYC CBLN3 KHNYN SDR39U1 NGDN RNA5SP383 NYNRIN TINF2 RNF31 ENSG00000259321 LOC102724814
GH14J024364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.9 +62.9 62948 6.1 HDGF PKNOX1 MLX ARID4B NEUROD1 SIN3A DMAP1 YBX1 ZNF2 ZBTB7B NFATC4 KHNYN ADCY4 SDR39U1 RNA5SP383 RIPK3 RNF31 TINF2 TM9SF1 CIDEB
GH14J024309 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 +117.2 117224 8.6 PKNOX1 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF143 ZNF207 FOS PAF1 CIDEB LTB4R LTB4R2 KHNYN RNA5SP383 NGDN TM9SF1 RNF31 TINF2 NYNRIN
GH14J024270 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 9.2 +158.1 158128 5.4 MLX ZFP64 DMAP1 IRF4 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 LOC102725044 RABGGTA IPO4 TSSK4 RNF31 HOMEZ KHNYN NOP9 NGDN DHRS1
GH14J024397 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11.6 +30.1 30138 6.7 KLF17 PLRG1 ZNF48 ZNF335 GLIS2 FOS SP3 ZHX2 ZNF398 PCBP2 KHNYN NYNRIN ADCY4 RNA5SP383 RNF31 TINF2 TM9SF1 CIDEB NGDN RIPK3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CBLN3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CBLN3 gene promoter:

Genomic Locations for CBLN3 Gene

Genomic Locations for CBLN3 Gene
chr14:24,426,532-24,430,954
(GRCh38/hg38)
Size:
4,423 bases
Orientation:
Minus strand
chr14:24,895,738-24,900,160
(GRCh37/hg19)

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 posLast=9090
  • 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

Gene Families for CBLN3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for CBLN3 Gene

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

Animal Models for CBLN3 Gene

MGI Knock Outs for CBLN3:
  • Cbln3 Cbln3<tm1.1(KOMP)Vlcg>
  • Cbln3 Cbln3<tm1Jim>

Animal Model Products

  • Taconic Biosciences Mouse Models for CBLN3

Clone 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 an association with CBLN1 and maybe CBLN4, but not on CBLN2 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBLN3 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
golgi apparatus 3
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CBLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0030054 cell junction 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

(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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 98.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CBLN3 34 33
  • 89.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbln3 33
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia CBLN3 34 33
  • 89.11 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cbln3 16 34 33
  • 88.83 (n)
oppossum
(Monodelphis domestica)
Mammalia CBLN3 34
  • 65 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BX664707.1 34
  • 55 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CBLN3: view image

Paralogs for CBLN3 Gene

(5) SIMAP similar genes for CBLN3 Gene using alignment to 2 proteins:

  • CBLN3_HUMAN
  • G3V2Y8_HUMAN
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 Variation AA Info Type
rs1000300505 -- 24,428,239(-) C/T intron_variant
rs1000564660 -- 24,426,607(-) C/T 3_prime_UTR_variant
rs1003624867 -- 24,428,412(-) G/A intron_variant
rs1003740892 -- 24,428,729(-) C/G/T intron_variant
rs1004295122 -- 24,427,355(-) G/A 3_prime_UTR_variant

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)

Additional Variant Information for CBLN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBLN3

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for 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 HF … Gray A (Genome research 2003) 2 3 4 58
  2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 58
  4. Functional roles of neuropeptides in cerebellar circuits. (PMID: 19361475) Ito M (Neuroscience 2009) 22 58
  5. Cbln1 is essential for interaction-dependent secretion of Cbln3. (PMID: 17030622) Bao D … Morgan JI (Molecular and cellular biology 2006) 3 58

Products for CBLN3 Gene

Sources for CBLN3 Gene

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