PCDH12
entrez
51294
canonical
uniprot
Q9NPG4
canonical
ensembl
ENSG00000113555
resolver
ensp
ENSP00000231484
resolver
enst
ENST00000231484
resolver
genesymbol
PCDH12
resolver
hgnc
HGNC:8657
resolver
uniprot
Q6UXB6
resolver
uniprot
Q7Z738
resolver
uniprot
Q96KB8
resolver
uniprot
Q9H7Y6
resolver
uniprot
Q9H8E0
resolver
uniprot_entry
PCD12_HUMAN
resolver
uniprot_entry
Q7Z738_HUMAN
resolver
uniprot_sec
Q6UXB6
resolver
uniprot_sec
Q96KB8
resolver
uniprot_sec
Q9H7Y6
resolver
uniprot_sec
Q9H8E0
resolver
amino_acid_sequence
MMQLLQLLLGLLGPGGYLFLLGDCQEVTTLTVKYQVSEEVPSGTVIGKLSQELGREERRRQAGAAFQVLQLPQALPIQVDSEEGLLSTGRRLDREQLCRQWDPCLVSFDVLATGDLALIHVEIQVLDINDHQPRFPKGEQELEISESASLRTRIPLDRALDPDTGPNTLHTYTLSPSEHFALDVIVGPDETKHAELIVVKELDREIHSFFDLVLTAYDNGNPPKSGTSLVKVNVLDSNDNSPAFAESSLALEIQEDAAPGTLLIKLTATDPDQGPNGEVEFFLSKHMPPEVLDTFSIDAKTGQVILRRPLDYEKNPAYEVDVQARDLGPNPIPAHCKVLIKVLDVNDNIPSIHVTWASQPSLVSEALPKDSFIALVMADDLDSGHNGLVHCWLSQELGHFRLKRTNGNTYMLLTNATLDREQWPKYTLTLLAQDQGLQPLSAKKQLSIQISDINDNAPVFEKSRYEVSTRENNLPSLHLITIKAHDADLGINGKVSYRIQDSPVAHLVAIDSNTGEVTAQRSLNYEEMAGFEFQVIAEDSGQPMLASSVSVWVSLLDANDNAPEVVQPVLSDGKASLSVLVNASTGHLLVPIETPNGLGPAGTDTPPLATHSSRPFLLTTIVARDADSGANGEPLYSIRSGNEAHLFILNPHTGQLFVNVTNASSLIGSEWELEIVVEDQGSPPLQTRALLRVMFVTSVDHLRDSARKPGALSMSMLTVICLAVLLGIFGLILALFMSICRTEKKDNRAYNCREAESTYRQQPKRPQKHIQKADIHLVPVLRGQAGEPCEVGQSHKDVDKEAMMEAGWDPCLQAPFHLTPTLYRTLRNQGNQGAPAESREVLQDTVNLLFNHPRQRNASRENLNLPEPQPATGQPRSRPLKVAGSPTGRLAGDQGSEEAPQRPPASSATLRRQRHLNGKVSPEKESGPRQILRSLVRLSVAAFAERNPVEELTVDSPPVQQISQLLSLLHQGQFQPKPNHRGNKYLAKPGGSRSAIPDTDGPSARAGGQTDPEQEEGPLDPEEDLSVKQLLEEELSSLLDPSTGLALDRLSAPDPAWMARLSLPLTTNYRDNVISPDAAATEEPRTFQTFGKAEAPELSPTGTRLASTFVSEMSSLLEMLLEQRSSMPVEAASEALRRLSVCGRTLSLDLATSAASGMKVQGDPGGKTGTEGKSRGSSSSSRCL
uniprot
proteins
disease_involvement
DISEASE: Diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1) [MIM:251280]: An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications. {ECO:0000269|PubMed:27164683, ECO:0000269|PubMed:28804758}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity). {ECO:0000250|UniProtKB:O55134, ECO:0000269|PubMed:21402705}.
uniprot
proteins
mass_dalton
128995
uniprot
proteins
post_translational_modification
PTM: [Protocadherin-12]: Cleaved by ADAM10 close to the transmembrane domain to release the Protocadherin-12, secreted form in the serum. Cleavage results in reduced cellular adhesion in a cell migration assay. {ECO:0000269|PubMed:21402705}.
uniprot
proteins
pubmed
10716726
uniprot
proteins
pubmed
11063261
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
21402705
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27164683
uniprot
proteins
pubmed
28804758
uniprot
proteins
sequence_length
1184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Protocadherin-12]: Cell membrane {ECO:0000269|PubMed:21402705}; Single-pass type I membrane protein {ECO:0000255}. Cell junction {ECO:0000250|UniProtKB:O55134}.; SUBCELLULAR LOCATION: [Protocadherin-12, secreted form]: Secreted {ECO:0000269|PubMed:21402705}. Note=The secreted form is produced following cleavage by ADAM10. {ECO:0000269|PubMed:21402705}.
uniprot
proteins
transmembrane_region
TRANSMEM 719..739; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins