General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes G-protein coupled receptors Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
22
Cytoband
q13.31
Chromosome location (bp)
46360834 - 46537620
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Receptor that may have an important role in cell/cell signaling during nervous system formation....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, G protein-coupled receptor, Receptor, Transducer
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A6I8PL36 [Direct mapping] Cadherin EGF LAG seven-pass G-type receptor 1
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014)
A0A6I8PIW5 [Direct mapping] Cadherin EGF LAG seven-pass G-type receptor 1
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014)
A0A6I8PRV8 [Direct mapping] Cadherin EGF LAG seven-pass G-type receptor 1
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014)
A0A6I8PIX5 [Direct mapping] Cadherin EGF LAG seven-pass G-type receptor 1
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014)
A0A6I8PRU0 [Direct mapping] Cadherin EGF LAG seven-pass G-type receptor 1
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins GPCRHMM predicted membrane proteins # TM segments-based 7TM proteins predicted by MDM Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014) deepTMHMM predicted membrane proteins
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GO:0001736[establishment of planar polarity] GO:0001843[neural tube closure] GO:0001942[hair follicle development] GO:0004888[transmembrane signaling receptor activity] GO:0004930[G protein-coupled receptor activity] GO:0005509[calcium ion binding] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0007155[cell adhesion] GO:0007156[homophilic cell adhesion via plasma membrane adhesion molecules] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007266[Rho protein signal transduction] GO:0007626[locomotory behavior] GO:0009952[anterior/posterior pattern specification] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0032956[regulation of actin cytoskeleton organization] GO:0042060[wound healing] GO:0042249[establishment of planar polarity of embryonic epithelium] GO:0042472[inner ear morphogenesis] GO:0045176[apical protein localization] GO:0048105[establishment of body hair planar orientation] GO:0060488[orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis] GO:0060489[planar dichotomous subdivision of terminal units involved in lung branching morphogenesis] GO:0060490[lateral sprouting involved in lung morphogenesis] GO:0090179[planar cell polarity pathway involved in neural tube closure] GO:0090251[protein localization involved in establishment of planar polarity] GO:0097475[motor neuron migration]
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3019 aa
329.9 kDa
Yes
7
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