CBLN3 Gene
protein-coding GIFtS: 44
GCID: GC14M024895
|
|
cerebellin 3 precursor
| |
Aliases
for CBLN3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cerebellin 3 Precursor1 2 | | PRO14862 | | Cerebellin-31 |
Export aliases for CBLN3 gene to outside databasesPrevious GC identifers: GC00U907483 GC14U900191 GC14M023967 GC14M005010 |
Summaries
for CBLN3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CBLN3:
Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminalC1q 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 theextracellular matrix (Pang et al., 2000 (PubMed 10964938)).(supplied by OMIM, Aug 2009)
UniProtKB/Swiss-Prot: CBLN3_HUMAN, Q6UW01Function: May be involved in synaptic functions in the CNS
|
Genomic Views
for CBLN3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CBLN3 gene promoter:
AREB6 Tal-1 ITF-2 Tal-1beta ATF6 E47
Other transcription factors
Search SABiosciences Chromatin IP Primers for CBLN3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBLN3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q12 Ensembl cytogenetic band: 14q12 HGNC cytogenetic band: 14q12CBLN3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14M024895: view genomic region
(about GC identifiers)
Start:
|
24,895,738 bp from pter |
End:
|
24,900,160 bp from pter |
Size:
|
4,423 bases |
Orientation:
|
minus strand |
|
Proteins
for CBLN3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CBLN3_HUMAN, Q6UW01 (See
protein sequence)Recommended Name: Cerebellin-3 precursor Size: 205 amino acids; 21521 Da
Subunit: Heterohexamer; disulfide-linked heterotrimers. Does not homooligomerize, but probably forms a complex with atleast CBLN1. May interact with CBLN2 and CBLN4 (By similarity)
Subcellular location: Secreted. Cell junction, synapse (By similarity). Note=Secretion depends probably on aassociation with CBLN1 or perhaps CBLN4 but not on CBLN2 (By similarity)Explore the universe of human proteins at neXtProt for CBLN3: NX_Q6UW01
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6UW01
CBLN3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001034860.1
ENSEMBL proteins: ENSP00000267406 ENSP00000450935
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CBLN3 for ontologies About GeneDecksing
CBLN3 Antibody Products:
Assay Products for CBLN3: |
Protein
Domains /
Families
for CBLN3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CBLN3 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6UW01ProtoNet protein and cluster: Q6UW01 1 Blocks protein family: IPB001073 Complement C1q protein
UniProtKB/Swiss-Prot: CBLN3_HUMAN, Q6UW01Similarity: Contains 1 C1q domain |
Function
for CBLN3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CBLN3_HUMAN, Q6UW01Function: May be involved in synaptic functions in the CNS
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CBLN3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CBLN3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CBLN3 (NM_001039771) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CBLN3 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CBLN3 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBLN3 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- |
CBLN3 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Cbln3tm1Jim for CBLN3
3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Cbln3):
CBLN3 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CBLN3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CBLN3
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for CBLN3 (Q6UW013 ENSP000002674064) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for CBLN3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CBLN3 for compounds About GeneDecksing
 Browse Tocris compounds for CBLN3
5 Novoseek chemical compound relationships for CBLN3 gene About this table
Search CenterWatch for drugs/clinical trials and news about CBLN3
|
Transcripts
for CBLN3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CBLN3 gene: NM_001039771.2 Unigene Cluster for CBLN3: Cerebellin 3 precursor Hs.207603 [show with all ESTs]Unigene Representative Sequence: NM_0010397712 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000267406(uc001wpg.4) ENST00000555436
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CBLN3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CBLN3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CBLN3 (NM_001039771) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CBLN3 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CBLN3 |
Additional cDNA sequence: AY359070.1 BC127674.1 BC127675.1 BC150549.1 BC150550.1 4 DOTS entries: DT.100770772 DT.110266 DT.100742133 DT.120753158
GeneLoc Exon Structure
|
Expression
for CBLN3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CBLN3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTCATTCCT
About this image
See CBLN3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CBLN3
SOURCE GeneReport for Unigene cluster: Hs.207603
SABiosciences Custom PCR Arrays for CBLN3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CBLN3
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CBLN3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CBLN3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CBLN3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBLN3 |
Orthologs
for CBLN3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CBLN3 gene from 1/9 species (see all 9) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
zebrafish
(Danio rerio) |
Actinopterygii |
BX664707.16cbln126 |
cerebellin 12 |
55(a)55(a) |
1 ↔ many1 ↔ many |
7(1425421-1431202) 2(37824173-37828415) |
ENSEMBL Gene Tree for CBLN3 (if available)
TreeFam Gene Tree for CBLN3 (if available) |
Paralogs
for CBLN3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CBLN3 gene
- CBLN22 CBLN12 CBLN42 CAPRIN12 CAPRIN22
5 SIMAP similar genes for CBLN3 using alignment to 2 protein entries: CBLN3_HUMAN (see all proteins):CBLN1 CBLN2 CBLN4 CAPRIN2 COL8A2
CBLN3 for paralogs About GeneDecksing
|
Genomic Variants
for CBLN3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CBLN3 (24895738 - 24900160 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CBLN3: -- | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for CBLN3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CBLN3 for disorders About GeneDecksing
OMIM gene information: 612978
OMIM disorders: --
4  diseases for CBLN3: About MalaCardsolivopontocerebellar atrophy spinocerebellar degeneration ganglioneuroblastoma neuroblastoma
Export disorders for CBLN3 gene to outside databases
|
Publications
for CBLN3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CBLN3 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with CBLN3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
- Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
- Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
- Cbln1 is essential for interaction-dependent secretion of Cbln3. (PubMed id 17030622)1 Bao D....Morgan J.I. (2006)
- Cbln3, a novel member of the precerebellin family that binds specifically to Cbln1. (PubMed id 10964938)1 Pang Z....Morgan J.I. (2000)
- Cerebellin stimulates the secretory activity of the rat adrenal gland: in vitro and in vivo studies. (PubMed id 10688962)9 Albertin G....Nussdorfer G.G. (2000)
- Cerebellin enhances in vitro secretory activity of human adrenal gland. (PubMed id 10022429)9 Mazzocchi G....Nussdorfer G.G. (1999)
- Cerebellin and cerebellin mRNA in the human brain, adrenal glands and the tumour tissues of adrenal tumour, ganglioneuroblastoma and neuroblastoma. (PubMed id 9246935)9 Satoh F....Mouri T. (1997)
- [Cerebellin in the cerebellum in spinocerebellar degeneration] (PubMed id 7495612)9 Mizuno Y....Itoyama Y. (1995)
- Decrease in cerebellin and corticotropin-releasing hormone in the cerebellum of olivopontocerebellar atrophy and Shy-Drager syndrome. (PubMed id 7583264)9 Mizuno Y....Itoyama Y. (1995)
|
External Searches for CBLN3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CBLN3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CBLN3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CBLN3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CBLN3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CBLN3 gene:
Search GeneIP for patents involving CBLN3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CBLN3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CBLN3 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CBLN3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CBLN3 | | | OriGene Protein Over-expression Lysate for CBLN3 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CBLN3 | | OriGene 3'-UTR Clone for CBLN3 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CBLN3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CBLN3 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for CBLN3 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CBLN3 | | OriGene Custom Protein Services for CBLN3 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CBLN3 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CBLN3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBLN3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CBLN3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CBLN3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CBLN3 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for CBLN3 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | CBLN3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBLN3 |
|  |  |  | | | | ThermoFisher Antibodies for CBLN3 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CBLN3 |
|
|
|
|
