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CBLN2 Gene(Protein Coding)

Cerebellin 2 Precursor

GCID:
GC18M072537
GIFtS:
49
Genes Participants
UDN Logo

Aliases for CBLN2 Gene

Aliases for CBLN2 Gene

  • Cerebellin 2 Precursor 2 3 5
  • Cerebellin-2 3

External Ids for CBLN2 Gene

Previous GeneCards Identifiers for CBLN2 Gene

  • GC18U990007
  • GC18M068352
  • GC18M068354
  • GC18M070203
  • GC18M066922

Summaries for CBLN2 Gene

GeneCards Summary for CBLN2 Gene

CBLN2 (Cerebellin 2 Precursor) is a Protein Coding gene. An important paralog of this gene is CBLN1.

UniProtKB/Swiss-Prot for CBLN2 Gene

  • May play role in synaptogenesis induction.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBLN2 Gene

Genomics for CBLN2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CBLN2 Gene

Enhancers for CBLN2 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
GH18G072637 0.4 FANTOM5 4.5 +0.7 712 0.1 MXI1 EP300 CBLN2 NETO1 PIR37044
GH18G072869 1 FANTOM5 ENCODE 1.2 -231.0 -230950 0.8 CTCF SUZ12 CBX2 CTBP2 RBBP5 EZH2 NETO1 CBLN2 GC18P073256
GH18G072674 1.1 FANTOM5 ENCODE 0.3 -36.8 -36773 1.1 TBL1XR1 EGR1 RELB ETV6 IKZF2 CREM CBFB JUNB GATAD2B TBX21 CBLN2 ENSG00000265579
GH18G072691 0.8 Ensembl ENCODE 0.2 -54.0 -53977 1.5 ZNF316 POLR2A FOS ETS1 ENSG00000265579 CBLN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CBLN2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CBLN2 gene promoter:

Genomic Location for CBLN2 Gene

Chromosome:
18
Start:
72,535,898 bp from pter
End:
72,638,521 bp from pter
Size:
102,624 bases
Orientation:
Minus strand

Genomic View for CBLN2 Gene

Genes around CBLN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBLN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBLN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CBLN2 Gene

Proteins for CBLN2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CBLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUK8-CBLN2_HUMAN
    Recommended name:
    Cerebellin-2
    Protein Accession:
    Q8IUK8
    Secondary Accessions:
    • Q53Z56

    Protein attributes for CBLN2 Gene

    Size:
    224 amino acids
    Molecular mass:
    24084 Da
    Quaternary structure:
    • May form homooligomers or heterooligomers with CBLN1 and CBLN3 prior to secretion. Once secreted, does not interact with other CBLN family members. Interacts with GRID2, and more weakly with GRID1. Interacts with NRXN1 and NRXN2 long and short isoforms produced by alternative promoter usage. Weakly interacts with NRXN3 short isoform and not at all with NRXN3 long isoform (By similarity).

neXtProt entry for CBLN2 Gene

Protein Expression for CBLN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CBLN2 Gene

  • Glycosylation at Asn53 and posLast=110110
  • Modification sites at PhosphoSitePlus

Other Protein References for CBLN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CBLN2 Gene

Domains & Families for CBLN2 Gene

Protein Domains for CBLN2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CBLN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CBLN2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CBLN2 Gene

Function for CBLN2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CBLN2 Gene

UniProtKB/Swiss-Prot Function:
May play role in synaptogenesis induction.
genes like me logo Genes that share phenotypes with CBLN2: view

Animal Models for CBLN2 Gene

MGI Knock Outs for CBLN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CBLN2

Inhibitory RNA Products

Clone 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 CBLN2 Gene

Localization for CBLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBLN2 Gene

Secreted.

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 CBLN2 gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for CBLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with CBLN2: view

Pathways & Interactions for CBLN2 Gene

SuperPathways for CBLN2 Gene

PathCards logo More details on SuperPathways for CBLN2
No Data Available

Interacting Proteins for CBLN2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000269503%0d%0a9606.ENSP00000267406%0d%0a9606.ENSP00000297537%0d%0a
Selected Interacting proteins: Q8IUK8-CBLN2_HUMAN ENSP00000269503 for CBLN2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CBLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051965 positive regulation of synapse assembly IEA --
genes like me logo Genes that share ontologies with CBLN2: view

No data available for Pathways by source and SIGNOR curated interactions for CBLN2 Gene

Drugs & Compounds for CBLN2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CBLN2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CBLN2 Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CBLN2 Gene

Cerebellin 2 precursor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBLN2 Gene

No ASD Table

Relevant External Links for CBLN2 Gene

GeneLoc Exon Structure for
CBLN2
ECgene alternative splicing isoforms for
CBLN2

Expression for CBLN2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CBLN2 Gene

mRNA expression in normal human tissues for CBLN2 Gene
mRNA expression by BioGPS for CBLN2 GenemRNA expression by GTEx for CBLN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBLN2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x14.3), Brain - Cortex (x13.0), and Brain - Anterior cingulate cortex (BA24) (x11.4).

Protein differential expression in normal tissues from HIPED for CBLN2 Gene

This gene is overexpressed in Pancreatic juice (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CBLN2 Gene



Protein tissue co-expression partners for CBLN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CBLN2 Gene:

CBLN2

SOURCE GeneReport for Unigene cluster for CBLN2 Gene:

Hs.569851

Evidence on tissue expression from TISSUES for CBLN2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CBLN2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBLN2 Gene

Orthologs for CBLN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBLN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CBLN2 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
 Mammalia CBLN2 35
  • 99 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CBLN2 35
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CBLN2 34 35
  • 91.07 (n)
mouse
(Mus musculus)
 Mammalia Cbln2 34 16 35
  • 89.58 (n)
dog
(Canis familiaris)
 Mammalia CBLN2 34 35
  • 89.14 (n)
rat
(Rattus norvegicus)
 Mammalia Cbln2 34
  • 88.99 (n)
chicken
(Gallus gallus)
 Aves CBLN2 34 35
  • 88.89 (n)
lizard
(Anolis carolinensis)
 Reptilia CBLN2 35
  • 91 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cbln2 34
  • 80.49 (n)
African clawed frog
(Xenopus laevis)
 Amphibia cbln2-prov 34
zebrafish
(Danio rerio)
 Actinopterygii cbln2b 35
  • 81 (a)
 OneToMany
cbln2a 35
  • 77 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 36 (a)
 OneToMany
Species where no ortholog for CBLN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBLN2 Gene

ENSEMBL:
Gene Tree for CBLN2 (if available)
TreeFam:
Gene Tree for CBLN2 (if available)

Paralogs for CBLN2 Gene

Paralogs for CBLN2 Gene

(5) SIMAP similar genes for CBLN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CBLN2: view

Variants for CBLN2 Gene

Sequence variations from dbSNP and Humsavar for CBLN2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000077594 -- 72,606,465(+) TTTGG(A/G)CATGT intron-variant
rs1000099159 -- 72,567,404(+) TCAGT(A/C)ACCTC intron-variant
rs1000102619 -- 72,587,525(+) ACTAC(A/G)AAGTT intron-variant
rs1000136102 -- 72,609,921(+) TGGTA(G/T)TCCCT intron-variant
rs1000148677 -- 72,549,626(+) CTATA(C/T)AATTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBLN2 Gene

Variant ID Type Subtype PubMed ID
esv3643061 CNV loss 21293372
esv3893139 CNV gain 25118596
nsv833693 CNV gain 17160897

Variation tolerance for CBLN2 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBLN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBLN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBLN2 Gene

Disorders for CBLN2 Gene

Relevant External Links for CBLN2

Genetic Association Database (GAD)
CBLN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBLN2

No disorders were found for CBLN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CBLN2 Gene

Publications for CBLN2 Gene

  1. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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) 3 4 64
  5. Genomic structure and mapping of precerebellin and a precerebellin-related gene. (PMID: 7877445) Kavety B. … Morgan J.I. (Brain Res. Mol. Brain Res. 1994) 2 3 64

Products for CBLN2 Gene

Sources for CBLN2 Gene

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