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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 ... See more...
Aliases for CELSR2 Gene
Aliases for CELSR2 Gene
- Cadherin EGF LAG Seven-Pass G-Type Receptor 2 2 3 4 5
- CDHF10 2 3 4
- MEGF3 2 3 4
- Multiple Epidermal Growth Factor-Like Domains Protein 3 3 4
- Adhesion G Protein-Coupled Receptor C2 2 3
- Epidermal Growth Factor-Like Protein 2 3 4
- Multiple EGF-Like Domains Protein 3 3 4
- Cadherin Family Member 10 3 4
- EGF-Like Protein 2 3 4
- Flamingo Homolog 3 3 4
- Flamingo1 2 3
- KIAA0279 2 4
- ADGRC2 2 3
- EGFL2 3 4
- Cadherin, EGF LAG Seven-Pass G-Type Receptor 2, Flamingo (Drosophila) Homolog 2
- Cadherin, EGF LAG Seven-Pass G-Type Receptor 2 (Flamingo Homolog, Drosophila) 3
- 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
- CELSR2 5
External Ids for CELSR2 Gene
- HGNC: 3231
- NCBI Entrez Gene: 1952
- Ensembl: ENSG00000143126
- OMIM®: 604265
- UniProtKB/Swiss-Prot: 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 Sugarman Brachydactyly and Orofaciodigital Syndrome Iii. Among its related pathways are Wnt / Hedgehog / Notch and GPCRs, Other. 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 Summary for CELSR2 Gene
-
Receptor that may have an important role in cell/cell signaling during nervous system formation.
Additional gene information for CELSR2 Gene
- HGNC (3231)
- NCBI Entrez Gene (1952)
- Ensembl (ENSG00000143126)
- OMIM® (604265)
- UniProtKB/Swiss-Prot (Q9HCU4)
- Open Targets Platform(ENSG00000143126)
- Monarch Initiative
- Search for CELSR2 at DataMed
- Search for CELSR2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CELSR2 Gene
Genomics for CELSR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CELSR2
- Top Transcription factor binding sites by QIAGEN in the CELSR2 gene promoter:
-
- C/EBPbeta
- CREB
- HEN1
- Olf-1
- Pax-2
- Pax-2a
- Roaz
- SEF-1 (1)
- USF-1
- YY1
Genomic Locations for CELSR2 Gene
Latest Assembly
- chr1:109,249,539-109,275,751
- (GRCh38/hg38)
- Size:
- 26,213 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:109,792,161-109,818,373
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 26,213 bases
- Orientation:
- Plus strand
- chr1:109,792,641-109,818,372
- (GRCh37/hg19 by Ensembl)
- Size:
- 25,732 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 HGNC
- 1p13.3 by Entrez Gene
- 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 Asn486, Asn557, Asn701, Asn1036, Asn1076, Asn1182, Asn1212, Asn1501, Asn1565, Asn1741, Asn1827, Asn1900, Asn2024, Asn2043, Asn2061, Asn2323, and Asn2345
- NX_Q9HCU4 (NX_Q9HCU4-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- CELR2_HUMAN (1055)
Other Protein References for CELSR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences CELSR2 Antibody (LS-A1940) and CELSR2 Antibody (LS-A1943)
- G Biosciences Immunotag™ CELSR2 Antibody and Immunotag™ CDHF10 Polyclonal Antibody
- Novus Biologicals Antibodies for CELSR2
-
Abcam antibodies for CELSR2
- Invitrogen Antibodies for CELSR2 (AFLGC-CELSR2)
-
Boster Bio Antibodies for CELSR2
- Sino Biological Antibodies for CELSR2
Protein products for research
- 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: Show 7 available CELSR2 Proteins ranked by validation data
- Compare Top CELSR2 Proteins
-
Quality Products:
-
Abcam proteins for CELSR2
Assay products for research
- antibodies-online: Show 10 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:
-
- Aspartic acid and asparagine hydroxylation site
- Laminin-type EGF-like domain
- EGF-like calcium-binding
- Cadherin
- Laminin G
- G-protein coupled receptors family 2 (secretin-like)
- GPS domain
- ProtoNet:
Suggested Antigen Peptide Sequences for CELSR2 Gene
- GenScript: Design optimal peptide antigens:
-
- Multiple epidermal growth factor-like domains protein 3 (CELR2_HUMAN)
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 vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Reduced mammosphere formation
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased G1 DNA content
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Decreased viability in colon lineage; decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Increased free cholesterol
Animal Models for CELSR2 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for CELSR2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CELSR2 - Starting at $85 >
- * CELSR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CELSR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CELSR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CELSR2
miRNA for CELSR2 Gene
- miRTarBase miRNAs that target CELSR2
-
- mmu-miR-362-5p (MIRT009061)
- mmu-miR-17-5p (MIRT010158)
- mmu-miR-26a-5p (MIRT011431)
- mmu-miR-9-5p (MIRT015583)
- 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)
- mmu-miR-145a-5p (MIRT584331)
- mmu-miR-875-3p (MIRT595159)
- 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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for CELSR2 - Starting at $45 >
- * CELSR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CELSR2
Cell Lines for research
-
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 |
| cytoskeleton | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,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:0001764 | neuron migration | IEA | -- |
| GO:0003341 | cilium movement | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA,ISS | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | ISS | -- |
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 |
Transcripts for CELSR2 Gene
mRNA/cDNA for CELSR2 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000271332 11015 nts (view in UCSC)
- ENST00000459940 562 nts (view in UCSC)
- ENST00000489018 2958 nts (view in UCSC)
- ENST00000498157 3680 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CELSR2 - Starting at $85 >
- * CELSR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CELSR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CELSR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CELSR2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for CELSR2 - Starting at $45 >
- * CELSR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CELSR2
| 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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| SP16: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP23: |
| 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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| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| 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: | |||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||
| SP22: | |||||||||||||||||||||||||||||
| SP23: |
Relevant External Links for CELSR2 Gene
- GeneLoc Exon Structure for
- CELSR2
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CELSR2
SOURCE 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)
- Skin(2.5)
Primer products for research
-
OriGene qPCR primer pairs for CELSR2
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CELSR2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CELSR2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CELSR2 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Celsr2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Celsr2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | CELSR2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CELSR2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | celsr2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13998 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CELSR2 (2 of 2) 31 |
|
OneToMany | |
| celsr2 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | stan 31 32 |
|
OneToMany | |
| Cad89D 32 |
|
|
|||
| CadN2 32 |
|
|
|||
| shg 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | fmi-1 31 |
|
OneToMany |
- Species where no ortholog for CELSR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CELSR2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 871867 | Uncertain Significance: not provided | 109,265,748(+) |
G/A NM_001408.3(CELSR2):c.5741G>A (p.Arg1914Gln) |
MISSENSE | |
| 871868 | Uncertain Significance: not provided | 109,269,247(+) |
G/A NM_001408.3(CELSR2):c.6769G>A (p.Gly2257Arg) |
MISSENSE | |
| 916557 | Likely Pathogenic: Tracheoesophageal fistula | 109,252,937(+) |
A/G NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser) |
MISSENSE | |
| rs1064797116 | Uncertain Significance: not provided | 109,252,460(+) |
A/G NM_001408.3(CELSR2):c.2381A>G (p.Gln794Arg) |
MISSENSE | |
| rs111462463 | Benign: not provided | 109,253,352(+) |
C/T NM_001408.3(CELSR2):c.3273C>T (p.Asn1091=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELSR2 Gene
Disorders for CELSR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sugarman brachydactyly |
|
|
| orofaciodigital syndrome iii |
|
|
| tracheoesophageal fistula with or without esophageal atresia |
|
|
| idiopathic scoliosis |
|
|
| low density lipoprotein cholesterol level quantitative trait locus 6 |
|
|
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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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
- 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 41
- 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 41
- 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 41
- 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 41
ExternalLinks
Products for CELSR2 Gene
- Custom Antibody Services
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- High-throughput Antibody Production Service
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- Browse Antibodies
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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 (AFLGC-CELSR2)
- VectorBuilder Custom and pre-made DNA vectors for CELSR2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CELSR2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CELSR2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CELSR2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CELSR2
- antibodies-online: Show 10 available CELSR2 Antibodies ranked by validation data
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- antibodies-online: Show 10 available CELSR2 Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 7 available CELSR2 Proteins ranked by validation data
- Compare Top CELSR2 Proteins
- Quality Products:
- Horizon Cell Lines for CELSR2
- 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
- Search GeneCopoeia for 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) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
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- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
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- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB