PCDH12 (protocadherin 12)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51294
Gene name Gene Name - the full gene name approved by the HGNC.
Protocadherin 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCDH12
Synonyms (NCBI Gene) Gene synonyms aliases
DMJDS1, VE-cadherin-2, VECAD2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of th
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs370283860 G>A Pathogenic Coding sequence variant, stop gained
rs375346212 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs531630376 C>A Likely-pathogenic Coding sequence variant, stop gained
rs776111123 G>-,GG Pathogenic Coding sequence variant, frameshift variant
rs1199523766 C>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT1216729 hsa-miR-4432 CLIP-seq
MIRT1216730 hsa-miR-548u CLIP-seq
MIRT1216731 hsa-miR-558 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 10380929, 10716726
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein
MIM HGNC e!Ensembl
605622 8657 ENSG00000113555
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein
UniProt ID Q9NPG4
Protein name Protocadherin-12 (Vascular cadherin-2) (Vascular endothelial cadherin-2) (VE-cad-2) (VE-cadherin-2) [Cleaved into: Protocadherin-12, secreted form]
Protein function Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705). Promotes hom
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 31 → 114 Cadherin-like Domain
PF00028 Cadherin 140 → 235 Cadherin domain Domain
PF00028 Cadherin 249 → 343 Cadherin domain Domain
PF00028 Cadherin 360 → 451 Cadherin domain Domain
PF00028 Cadherin 465 → 556 Cadherin domain Domain
PF00028 Cadherin 612 → 694 Cadherin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in highly vascularized tissues including the heart and placenta, but most tissues contain a low level of expression (PubMed:11063261). Prominent expression in the spleen (PubMed:11063261). Present in villous and extravillous
Sequence 
MMQLLQLLLGLLGPGGYLFLLGDCQEVTTLTVKYQVSEEVPSGTVIGKLSQELGREERRR
QAGAAFQVLQLPQALPIQVDSEEGLLSTGRRLDREQLCRQWDPCLVSFDVLATGDLALIH
VEIQVLDINDHQPRFPKGEQELEISESASLRTRIPLDRALDPDTGPNTLHTYTLSPSEHF
ALDVIVGPDETKHAELIVVKELDREIHSFFDLVLTAYDNGNPPKSGTSLVKVNVLDSNDN
SPAFAESSLALEIQEDAAPGTLLIKLTATDPDQGPNGEVEFFLSKHMPPEVLDTFSIDAK
TGQVILRRPLDYEKNPAYEVDVQARDLGPNPIPAHCKVLIKVLDVNDNIPSIHVTWASQP
SLVSEALPKDSFIALVMADDLDSGHNGLVHCWLSQELGHFRLKRTNGNTYMLLTNATLDR
EQWPKYTLTLLAQDQGLQPLSAKKQLSIQISDINDNAPVFEKSRYEVSTRENNLPSLHLI
TIKAHDADLGINGKVSYRIQDSPVAHLVAIDSNTGEVTAQRSLNYEEMAGFEFQVIAEDS
GQPMLASSVSVWVSLLDANDNAPEVVQPVLSDGKASLSVLVNASTGHLLVPIETPNGLGP
AGTDTPPLATHSSRPFLLTTIVARDADSGANGEPLYSIRSGNEAHLFILNPHTGQLFVNV
TNASSLIGSEWELEIVVEDQGSPPLQTRALLRVMFVTSVDHLRDSARKPGALSMSMLTVI
CLAVLLGIFGLILALFMSICRTEKKDNRAYNCREAESTYRQQPKRPQKHIQKADIHLVPV
LRGQAGEPCEVGQSHKDVDKEAMMEAGWDPCLQAPFHLTPTLYRTLRNQGNQGAPAESRE
VLQDTVNLLFNHPRQRNASRENLNLPEPQPATGQPRSRPLKVAGSPTGRLAGDQGSEEAP
QRPPASSATLRRQRHLNGKVSPEKESGPRQILRSLVRLSVAAFAERNPVEELTVDSPPVQ
QISQLLSLLHQGQFQPKPNHRGNKYLAKPGGSRSAIPDTDGPSARAGGQTDPEQEEGPLD
PEEDLSVKQLLEEELSSLLDPSTGLALDRLSAPDPAWMARLSLPLTTNYRDNVISPDAAA
TEEPRTFQTFGKAEAPELSPTGTRLASTFVSEMSSLLEMLLEQRSSMPVEAASEALRRLS
VCGRTLSLDLATSAASGMKVQGDPGGKTGTEGKSRGSSSSSRCL
Sequence length 1184
Interactions View interactions
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