Aliases for CELSR2 Gene
Aliases for CELSR2 Gene
- Cadherin EGF LAG Seven-Pass G-Type Receptor 2 2 3 3 5
- Multiple Epidermal Growth Factor-Like Domains Protein 3 3 4
- Epidermal Growth Factor-Like Protein 2 3 4
- Adhesion G Protein-Coupled Receptor C2 2 3
- Multiple EGF-Like Domains Protein 3 3 4
- Cadherin Family Member 10 3 4
- Flamingo Homolog 3 3 4
- EGF-Like Protein 2 3 4
- CDHF10 3 4
- EGFL2 3 4
- MEGF3 3 4
- Cadherin, EGF LAG Seven-Pass G-Type Receptor 2 (Flamingo Homolog, Drosophila) 3
- Cadherin, EGF LAG Seven-Pass G-Type Receptor 2, Flamingo (Drosophila) Homolog 2
- Multiple Epidermal Growth Factor-Like Domains 3 3
- Cadherin, EGF LAG Seven-Pass G-Type Receptor 2 2
- Epidermal Growth Factor-Like 2 3
- EGF-Like-Domain, Multiple 2 3
- Flamingo1 3
- KIAA0279 4
- ADGRC2 3
External Ids for CELSR2 Gene
- HGNC: 3231
- Entrez Gene: 1952
- Ensembl: ENSG00000143126
- OMIM: 604265
- UniProtKB: Q9HCU4
Previous HGNC Symbols for CELSR2 Gene
- EGFL2
Previous GeneCards Identifiers for CELSR2 Gene
- GC01P110271
- GC01P108722
- GC01P108894
- GC01P109092
- GC01P109093
- GC01P109504
- GC01P109594
- GC01P109792
- GC01P107685
Summaries for CELSR2 Gene
-
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for CELSR2 Gene
CELSR2 (Cadherin EGF LAG Seven-Pass G-Type Receptor 2) is a Protein Coding gene. Diseases associated with CELSR2 include Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 and Joubert Syndrome 1. Among its related pathways are GPCRs, Other and Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is CELSR1.
UniProtKB/Swiss-Prot for CELSR2 Gene
-
Receptor that may have an important role in cell/cell signaling during nervous system formation.
Additional gene information for CELSR2 Gene
- Monarch Initiative
- Search for CELSR2 at DataMed
- Search for CELSR2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELSR2 Gene
Genomics for CELSR2 Gene
GeneHancer (GH) Regulatory Elements for CELSR2 Gene
Promoters and enhancers for CELSR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CELSR2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CELSR2 gene promoter:
-
- Olf-1
- SEF-1 (1)
- Roaz
- YY1
- C/EBPbeta
- CREB
- HEN1
- Pax-2
- Pax-2a
- USF-1
Regulatory Element Products
Genomic Locations for CELSR2 Gene
Genomic Locations for CELSR2 Gene
- chr1:109,249,715-109,275,756
- (GRCh38/hg38)
- Size:
- 26,042 bases
- Orientation:
- Plus strand
- chr1:109,792,641-109,818,378
- (GRCh37/hg19)
- Size:
- 25,738 bases
- Orientation:
- Plus strand
Genomic View for CELSR2 Gene
Genes around CELSR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.3 by Entrez Gene
- 1p13.3 by HGNC
- 1p13.3 by Ensembl
CELSR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CELSR2 Gene
Proteins for CELSR2 Gene
-
Protein details for CELSR2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HCU4-CELR2_HUMAN
- Recommended name:
- Cadherin EGF LAG seven-pass G-type receptor 2
- Protein Accession:
- Q9HCU4
- Q5T2Y7
- Q92566
Protein attributes for CELSR2 Gene
- Size:
- 2923 amino acids
- Molecular mass:
- 317453 Da
- Quaternary structure:
- No Data Available
Protein Expression for CELSR2 Gene
Post-translational modifications for CELSR2 Gene
- The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
- Glycosylation at posLast=23452345, posLast=23232323, Asn2061, posLast=20432043, Asn2024, posLast=19001900, posLast=18271827, posLast=17411741, posLast=15651565, posLast=15011501, posLast=12121212, posLast=11821182, posLast=10761076, Asn1036, posLast=701701, posLast=557557, and Asn486
- Modification sites at PhosphoSitePlus
Other Protein References for CELSR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CELSR2 (CELSR2)
- Novus Biologicals Antibodies for CELSR2
-
Abcam antibodies for CELSR2
- Invitrogen Antibodies for CELSR2
- GeneTex CELSR2 Antibody for CELSR2
-
Boster Bio Antibodies for CELSR2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CELSR2
- Origene Custom Protein Services for CELSR2
- Novus Biologicals proteins for CELSR2
- antibodies-online: Search results for 6 available CELSR2 Proteins ranked by validation data
- Compare Top CELSR2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for CELSR2
-
Abcam proteins for CELSR2
Assay Products
- antibodies-online: Search results for 8 available CELSR2 Elisa Kits ranked by validation data
- Compare Top CELSR2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CELSR2 Gene
Domains & Families for CELSR2 Gene
Gene Families for CELSR2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- G-protein coupled receptors
- Predicted membrane proteins
Protein Domains for CELSR2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CELSR2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9HCU4UniProtKB/Swiss-Prot:
CELR2_HUMAN :- Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
- Family:
-
- Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Function for CELSR2 Gene
Molecular function for CELSR2 Gene
- UniProtKB/Swiss-Prot Function:
- Receptor that may have an important role in cell/cell signaling during nervous system formation.
Phenotypes From GWAS Catalog for CELSR2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
| GO:0004930 | G-protein coupled receptor activity | NAS | 10907856 |
| GO:0005509 | calcium ion binding | IEA | -- |
Phenotypes for CELSR2 Gene
- MGI mutant phenotypes for CELSR2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CELSR2:
-
- Increased G1 DNA content
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Decreased free cholesterol
- Increased transferrin (TF) endocytosis
Animal Models for CELSR2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CELSR2
- Cyagen custom Knockout/knockin (KOKI) mouse models for CELSR2
-
CRISPR Products
-
OriGene CRISPR knockouts for CELSR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CELSR2
- genomics-online: gRNA clones - Search results for 67 available CELSR2 gene related products
- Overview of 67 available CELSR2 gene related products
- Applied Biological Materials CRISPR for CELSR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CELSR2
- GenScript: Design CRISPR guide RNA sequences for CELSR2
miRNA for CELSR2 Gene
- miRTarBase miRNAs that target CELSR2
-
- hsa-mir-744-3p (MIRT037380)
- hsa-mir-6763-5p (MIRT570716)
- hsa-mir-3150a-3p (MIRT570717)
- hsa-mir-6858-5p (MIRT570718)
- hsa-mir-4689 (MIRT570719)
- hsa-mir-491-5p (MIRT570720)
- hsa-mir-92a-2-5p (MIRT570721)
- hsa-mir-6825-5p (MIRT570722)
- hsa-mir-939-5p (MIRT570723)
- hsa-mir-1343-5p (MIRT570724)
- hsa-mir-7106-5p (MIRT570725)
- hsa-mir-765 (MIRT570726)
- hsa-mir-4784 (MIRT570727)
- hsa-mir-6134 (MIRT570728)
- hsa-mir-3150b-3p (MIRT570729)
- hsa-mir-1238-3p (MIRT659608)
- hsa-mir-670-3p (MIRT659609)
- hsa-mir-6780a-3p (MIRT659610)
- hsa-mir-7111-3p (MIRT659611)
- hsa-mir-627-3p (MIRT659612)
- hsa-mir-10a-3p (MIRT659613)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CELSR2
- Browse OriGene Inhibitory RNA Products For CELSR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELSR2
- genomics-online: shRNA clones - Search results for 67 available CELSR2 gene related products
- Overview of 67 available CELSR2 gene related products
Clone Products
-
OriGene ORF clones in human for CELSR2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CELSR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CELSR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CELSR2
- Applied Biological Materials Clones for CELSR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CELSR2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CELSR2 Gene
Localization for CELSR2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CELSR2 Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytosol | 2 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005886 | plasma membrane | ISS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | NAS | 10907856 |
Pathways & Interactions for CELSR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Wnt / Hedgehog / Notch | ||
| 2 | Ectoderm Differentiation | ||
| 3 | GPCRs, Other | ||
Pathways by source for CELSR2 Gene
2 BioSystems pathways for CELSR2 Gene
1 Cell Signaling Technology pathway for CELSR2 Gene
Interacting Proteins for CELSR2 Gene
GPS-Prot Interaction Network for CELSR2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | ISS | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | ISS | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007166 | cell surface receptor signaling pathway | IEA | -- |
No data available for SIGNOR curated interactions for CELSR2 Gene
Drugs & Compounds for CELSR2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| hmg coa reductase inhibitors | Pharma | 0 |
Drug Products
Transcripts for CELSR2 Gene
mRNA/cDNA for CELSR2 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (165) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000271332 10534 bps (uc001dxa.5)
- ENST00000459940 562 bps (uc057iyc.1)
- ENST00000489018 2958 bps (uc057iyd.1)
- ENST00000498157 3680 bps (uc057iye.1)
Unigene Clusters for CELSR2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CELSR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CELSR2
- genomics-online: gRNA clones - Search results for 67 available CELSR2 gene related products
- Overview of 67 available CELSR2 gene related products
- Applied Biological Materials CRISPR for CELSR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CELSR2
- GenScript: Design CRISPR guide RNA sequences for CELSR2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CELSR2
- Browse OriGene Inhibitory RNA Products For CELSR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELSR2
- genomics-online: shRNA clones - Search results for 67 available CELSR2 gene related products
- Overview of 67 available CELSR2 gene related products
Clone Products
-
OriGene ORF clones in human for CELSR2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CELSR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CELSR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CELSR2
- Applied Biological Materials Clones for CELSR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ |
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| ExUns: | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29a | · | 29b | · | 29c | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32a | · |
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| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP22: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP23: |
| ExUns: | 32b | · | 32c | ^ | 33a | · | 33b | ^ | 34 | ^ | 35a | · | 35b | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41a | · | 41b | · | 41c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP16: | |||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||
| SP18: | - | ||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||
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| SP22: | |||||||||||||||||||||||||||||
| SP23: |
Expression for CELSR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Ectoderm (Nervous System)
This gene is overexpressed in Placenta (55.6) and Cerebrospinal fluid (7.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CELSR2 Gene
NURSA nuclear receptor signaling pathways regulating expression of CELSR2 Gene:
CELSR2SOURCE GeneReport for Unigene cluster for CELSR2 Gene:
Hs.57652mRNA Expression by UniProt/SwissProt for CELSR2 Gene:
Q9HCU4-CELR2_HUMAN
Tissue specificity:
Highest expression in brain and testis.
Evidence on tissue expression from TISSUES for CELSR2 Gene
- Nervous system(4.9)
Primer Products
-
OriGene qPCR primer pairs for CELSR2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CELSR2 Gene
Orthologs for CELSR2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CELSR2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CELSR2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CELSR2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CELSR2 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Celsr2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Celsr2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | CELSR2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CELSR2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | celsr2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13998 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CELSR2 (2 of 2) 34 |
|
OneToMany | |
| celsr2 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | stan 34 35 |
|
OneToMany | |
| Cad89D 35 |
|
|
|||
| CadN2 35 |
|
|
|||
| shg 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | fmi-1 34 |
|
OneToMany |
- Species where no ortholog for CELSR2 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)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Evolution for CELSR2 Gene
- ENSEMBL:
- Gene Tree for CELSR2 (if available)
- TreeFam:
- Gene Tree for CELSR2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CELSR2: view image
Paralogs for CELSR2 Gene
Variants for CELSR2 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs12740374 | association, Low density lipoprotein cholesterol level quantitative trait locus 6 | 109,274,968(+) | G/T | 3_prime_UTR_variant | |
| rs561330579 | likely-pathogenic, Global developmental delay, Intellectual disability | 109,258,951(+) | C/G/T | coding_sequence_variant, missense_variant | |
| rs773722162 | likely-pathogenic, Orofacial-digital syndrome III | 109,272,916(+) | GAGGAGGAAGAAGAGGAGGA/GAGGAGGAAGAAGAGGAGGAAGAAGAGGAGGA | coding_sequence_variant, inframe_insertion | |
| rs1064797116 | uncertain-significance, not provided | 109,252,460(+) | A/G/T | coding_sequence_variant, missense_variant | |
| rs202022169 | uncertain-significance, not provided | 109,262,946(+) | T/C | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
0.536% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.09;
84.47% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CELSR2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELSR2 Gene
Disorders for CELSR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| low density lipoprotein cholesterol level quantitative trait locus 6 |
|
|
| joubert syndrome 1 |
|
|
Search CELSR2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CELSR2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CELSR2 Gene
Publications for CELSR2 Gene
- The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1. (PMID: 10907856) Vincent JB … Scherer SW (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
- Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. (PMID: 22003152) Grallert H … Ballantyne CM (European heart journal 2012) 3 44 58
- Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. (PMID: 21943158) Middelberg RP … Whitfield JB (BMC medical genetics 2011) 3 44 58
- A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) Coronary Artery Disease (C4D) Genetics Consortium (Nature genetics 2011) 3 44 58
- Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 44 58
Products for CELSR2 Gene
- R&D Systems Antibodies for CELSR2 (CELSR2)
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- Taconic Biosciences Mouse Models for CELSR2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CELSR2
- Cyagen custom Knockout/knockin (KOKI) mouse models for CELSR2
- VectorBuilder custom plasmid, inducible vectors for CELSR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CELSR2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 55 available CELSR2 Antibodies ranked by validation data
- Compare Top CELSR2 Antibodies
- antibodies-online: Search results for 8 available CELSR2 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 6 available CELSR2 Proteins ranked by validation data
- Compare Top CELSR2 Proteins
- Quality Products:
- GeneTex CELSR2 Antibody for CELSR2
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- Horizon Cell Lines for CELSR2
- genomics-online: cdna clones - Search results for 67 available CELSR2 gene related products
- Overview of 67 available CELSR2 gene related products
- orf clones - Search results for 67 available CELSR2 gene related products
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- genomics-online: gRNA clones - Search results for 67 available CELSR2 gene related products
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- Overview of 67 available CELSR2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CELSR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CELSR2
- GeneCopoeia miRNA 3'UTR Target clone products for CELSR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELSR2
- Boster Bio Antibodies for CELSR2
- Browse Boster Bio ELISA Kits
Sources for CELSR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt