MPDZ
entrez
8777
canonical
uniprot
O75970
canonical
ensembl
ENSG00000107186
resolver
ensp
ENSP00000320006
resolver
ensp
ENSP00000415208
resolver
ensp
ENSP00000439807
resolver
ensp
ENSP00000444151
resolver
ensp
ENSP00000553576
resolver
ensp
ENSP00000553577
resolver
ensp
ENSP00000553578
resolver
ensp
ENSP00000629969
resolver
ensp
ENSP00000629970
resolver
ensp
ENSP00000629971
resolver
ensp
ENSP00000629972
resolver
genesymbol
MPDZ
resolver
genesymbol_syn
MUPP1
resolver
hgnc
HGNC:7208
resolver
uniprot
A6NLC2
resolver
uniprot
B2RTS3
resolver
uniprot
B7ZMI4
resolver
uniprot
O43798
resolver
uniprot
Q4LE30
resolver
uniprot
Q5CZ80
resolver
uniprot
Q5JTX3
resolver
uniprot
Q5JTX6
resolver
uniprot
Q5JTX7
resolver
uniprot
Q5JUC3
resolver
uniprot
Q5JUC4
resolver
uniprot
Q5VZ62
resolver
uniprot
Q8N790
resolver
uniprot_entry
MPDZ_HUMAN
resolver
uniprot_sec
A6NLC2
resolver
uniprot_sec
B2RTS3
resolver
uniprot_sec
B7ZMI4
resolver
uniprot_sec
O43798
resolver
uniprot_sec
Q4LE30
resolver
uniprot_sec
Q5CZ80
resolver
uniprot_sec
Q5JTX3
resolver
uniprot_sec
Q5JTX6
resolver
uniprot_sec
Q5JTX7
resolver
uniprot_sec
Q5JUC3
resolver
uniprot_sec
Q5JUC4
resolver
uniprot_sec
Q5VZ62
resolver
uniprot_sec
Q8N790
resolver
amino_acid_sequence
MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYPKYNFSSTNPFADSLQINADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS
uniprot
proteins
disease_involvement
DISEASE: Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) [MIM:615219]: A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive. {ECO:0000269|PubMed:23240096, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses (PubMed:11150294, PubMed:15312654). Promotes clustering of HT2RC at the cell surface (By similarity). {ECO:0000250|UniProtKB:O55164, ECO:0000269|PubMed:11150294, ECO:0000269|PubMed:15312654}.
uniprot
proteins
mass_dalton
221618
uniprot
proteins
mutagenesis
MUTAGEN 147..150; /note="GLGF->PSES: Loss of interaction with CAMK2A."; /evidence="ECO:0000269|PubMed:15312654
uniprot
proteins
pubmed
11000240
uniprot
proteins
pubmed
11150294
uniprot
proteins
pubmed
11802782
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15312654
uniprot
proteins
pubmed
15316081
uniprot
proteins
pubmed
15364909
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17384233
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23240096
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28556411
uniprot
proteins
pubmed
9537516
uniprot
proteins
sequence_length
2070
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Apical cell membrane; Peripheral membrane protein; Cytoplasmic side. Postsynaptic density. Cell projection, dendrite. Cell junction, tight junction. Synapse. Synapse, synaptosome. Note=Colocalizes with HTR2C on the apical membrane of epithelial choroid plexus cells (By similarity). Highly enriched in postsynaptic densities (PSD). Localized to punctae on dendrites of hippocampal neurons and colocalizes with the synaptic marker DLG4. Localized mainly in the Schmidt-Lanterman incisures of myelinating Schwann cells (By similarity). In the retina, localizes to the sub-apical region adjacent to the adherens junction complex at the outer limiting membrane. Enriched at the tight junctions of epithelial cells. Association to the tight junctions depends on CXADR. {ECO:0000250, ECO:0000250|UniProtKB:O55164}.
uniprot
proteins