MPDZ (multiple PDZ domain crumbs cell polarity complex component)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 8777
• Gene name: Multiple PDZ domain crumbs cell polarity complex component
• Gene symbol: MPDZ
• Synonyms (NCBI Gene): HYC2, MUPP1
• Chromosome: 9
• Chromosome location: 9p23
• Summary: The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants en

SNPs Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs188840960	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs368581522	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs372127610	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs376078512	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs777752091	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs778600333	A>C,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs781251438	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs797045095	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs797045707	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886043499	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs922703465	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1554644827	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1554678324	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1586841546	->TCCTCCA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1587149916	T>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1587783980	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA Show/Hide all (241)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018749	hsa-miR-335-5p	Microarray	18185580
MIRT030077	hsa-miR-26b-5p	Microarray	19088304
MIRT1155936	hsa-let-7a	CLIP-seq
MIRT1155937	hsa-let-7b	CLIP-seq
MIRT1155938	hsa-let-7c	CLIP-seq
MIRT1155939	hsa-let-7d	CLIP-seq
MIRT1155940	hsa-let-7e	CLIP-seq
MIRT1155941	hsa-let-7f	CLIP-seq
MIRT1155942	hsa-let-7g	CLIP-seq
MIRT1155943	hsa-let-7i	CLIP-seq
MIRT1155944	hsa-miR-1237	CLIP-seq
MIRT1155945	hsa-miR-1248	CLIP-seq
MIRT1155946	hsa-miR-1267	CLIP-seq
MIRT1155947	hsa-miR-1299	CLIP-seq
MIRT1155948	hsa-miR-1304	CLIP-seq
MIRT1155949	hsa-miR-144	CLIP-seq
MIRT1155950	hsa-miR-1827	CLIP-seq
MIRT1155951	hsa-miR-200b	CLIP-seq
MIRT1155952	hsa-miR-200c	CLIP-seq
MIRT1155953	hsa-miR-3150a-3p	CLIP-seq
MIRT1155954	hsa-miR-3170	CLIP-seq
MIRT1155955	hsa-miR-3175	CLIP-seq
MIRT1155956	hsa-miR-3182	CLIP-seq
MIRT1155957	hsa-miR-342-5p	CLIP-seq
MIRT1155958	hsa-miR-3613-3p	CLIP-seq
MIRT1155959	hsa-miR-3647-3p	CLIP-seq
MIRT1155960	hsa-miR-3660	CLIP-seq
MIRT1155961	hsa-miR-3682-5p	CLIP-seq
MIRT1155962	hsa-miR-369-3p	CLIP-seq
MIRT1155963	hsa-miR-374a	CLIP-seq
MIRT1155964	hsa-miR-374b	CLIP-seq
MIRT1155965	hsa-miR-3927	CLIP-seq
MIRT1155966	hsa-miR-3974	CLIP-seq
MIRT1155967	hsa-miR-4260	CLIP-seq
MIRT1155968	hsa-miR-4282	CLIP-seq
MIRT1155969	hsa-miR-429	CLIP-seq
MIRT1155970	hsa-miR-4307	CLIP-seq
MIRT1155971	hsa-miR-4458	CLIP-seq
MIRT1155972	hsa-miR-4500	CLIP-seq
MIRT1155973	hsa-miR-452	CLIP-seq
MIRT1155974	hsa-miR-4526	CLIP-seq
MIRT1155975	hsa-miR-4645-3p	CLIP-seq
MIRT1155976	hsa-miR-4651	CLIP-seq
MIRT1155977	hsa-miR-4652-3p	CLIP-seq
MIRT1155978	hsa-miR-4664-5p	CLIP-seq
MIRT1155979	hsa-miR-4676-3p	CLIP-seq
MIRT1155980	hsa-miR-4704-5p	CLIP-seq
MIRT1155981	hsa-miR-4719	CLIP-seq
MIRT1155982	hsa-miR-4731-3p	CLIP-seq
MIRT1155983	hsa-miR-4744	CLIP-seq
MIRT1155984	hsa-miR-4753-3p	CLIP-seq
MIRT1155985	hsa-miR-4782-5p	CLIP-seq
MIRT1155986	hsa-miR-4801	CLIP-seq
MIRT1155987	hsa-miR-491-5p	CLIP-seq
MIRT1155988	hsa-miR-516b	CLIP-seq
MIRT1155989	hsa-miR-520d-5p	CLIP-seq
MIRT1155990	hsa-miR-524-5p	CLIP-seq
MIRT1155991	hsa-miR-590-3p	CLIP-seq
MIRT1155992	hsa-miR-608	CLIP-seq
MIRT1155993	hsa-miR-653	CLIP-seq
MIRT1155994	hsa-miR-875-3p	CLIP-seq
MIRT1155995	hsa-miR-939	CLIP-seq
MIRT1155996	hsa-miR-942	CLIP-seq
MIRT1155997	hsa-miR-98	CLIP-seq
MIRT1155936	hsa-let-7a	CLIP-seq
MIRT1155937	hsa-let-7b	CLIP-seq
MIRT1155938	hsa-let-7c	CLIP-seq
MIRT1155939	hsa-let-7d	CLIP-seq
MIRT1155940	hsa-let-7e	CLIP-seq
MIRT1155941	hsa-let-7f	CLIP-seq
MIRT1155942	hsa-let-7g	CLIP-seq
MIRT1155943	hsa-let-7i	CLIP-seq
MIRT2044578	hsa-miR-101	CLIP-seq
MIRT2044579	hsa-miR-1258	CLIP-seq
MIRT1155949	hsa-miR-144	CLIP-seq
MIRT2044580	hsa-miR-223	CLIP-seq
MIRT1155953	hsa-miR-3150a-3p	CLIP-seq
MIRT1155954	hsa-miR-3170	CLIP-seq
MIRT1155955	hsa-miR-3175	CLIP-seq
MIRT2044581	hsa-miR-323b-5p	CLIP-seq
MIRT1155957	hsa-miR-342-5p	CLIP-seq
MIRT2044582	hsa-miR-3689d	CLIP-seq
MIRT1155965	hsa-miR-3927	CLIP-seq
MIRT1155967	hsa-miR-4260	CLIP-seq
MIRT2044583	hsa-miR-4266	CLIP-seq
MIRT2044584	hsa-miR-4422	CLIP-seq
MIRT1155971	hsa-miR-4458	CLIP-seq
MIRT1155972	hsa-miR-4500	CLIP-seq
MIRT2044585	hsa-miR-4524	CLIP-seq
MIRT1155976	hsa-miR-4651	CLIP-seq
MIRT1155978	hsa-miR-4664-5p	CLIP-seq
MIRT2044586	hsa-miR-4695-5p	CLIP-seq
MIRT2044587	hsa-miR-4697-3p	CLIP-seq
MIRT1155984	hsa-miR-4753-3p	CLIP-seq
MIRT2044588	hsa-miR-4777-5p	CLIP-seq
MIRT2044589	hsa-miR-4779	CLIP-seq
MIRT1155987	hsa-miR-491-5p	CLIP-seq
MIRT2044590	hsa-miR-518d-5p	CLIP-seq
MIRT2044591	hsa-miR-519b-5p	CLIP-seq
MIRT2044592	hsa-miR-519c-5p	CLIP-seq
MIRT2044593	hsa-miR-520c-5p	CLIP-seq
MIRT2044594	hsa-miR-526a	CLIP-seq
MIRT2044595	hsa-miR-582-5p	CLIP-seq
MIRT1155991	hsa-miR-590-3p	CLIP-seq
MIRT1155992	hsa-miR-608	CLIP-seq
MIRT1155995	hsa-miR-939	CLIP-seq
MIRT1155997	hsa-miR-98	CLIP-seq
MIRT1155948	hsa-miR-1304	CLIP-seq
MIRT1155950	hsa-miR-1827	CLIP-seq
MIRT2273822	hsa-miR-2117	CLIP-seq
MIRT2273823	hsa-miR-4273	CLIP-seq
MIRT2273824	hsa-miR-4677-5p	CLIP-seq
MIRT2273825	hsa-miR-548c-3p	CLIP-seq
MIRT2273826	hsa-miR-616	CLIP-seq
MIRT1155936	hsa-let-7a	CLIP-seq
MIRT1155937	hsa-let-7b	CLIP-seq
MIRT1155938	hsa-let-7c	CLIP-seq
MIRT1155939	hsa-let-7d	CLIP-seq
MIRT1155940	hsa-let-7e	CLIP-seq
MIRT1155941	hsa-let-7f	CLIP-seq
MIRT1155942	hsa-let-7g	CLIP-seq
MIRT1155943	hsa-let-7i	CLIP-seq
MIRT2572713	hsa-miR-103a	CLIP-seq
MIRT2572714	hsa-miR-107	CLIP-seq
MIRT1155947	hsa-miR-1299	CLIP-seq
MIRT1155948	hsa-miR-1304	CLIP-seq
MIRT1155949	hsa-miR-144	CLIP-seq
MIRT2572715	hsa-miR-15a	CLIP-seq
MIRT2572716	hsa-miR-15b	CLIP-seq
MIRT2572717	hsa-miR-16	CLIP-seq
MIRT1155950	hsa-miR-1827	CLIP-seq
MIRT2572718	hsa-miR-195	CLIP-seq
MIRT2572719	hsa-miR-2053	CLIP-seq
MIRT1155953	hsa-miR-3150a-3p	CLIP-seq
MIRT2572720	hsa-miR-3160-5p	CLIP-seq
MIRT1155954	hsa-miR-3170	CLIP-seq
MIRT1155955	hsa-miR-3175	CLIP-seq
MIRT1155957	hsa-miR-342-5p	CLIP-seq
MIRT1155965	hsa-miR-3927	CLIP-seq
MIRT2572721	hsa-miR-409-3p	CLIP-seq
MIRT2572722	hsa-miR-424	CLIP-seq
MIRT1155967	hsa-miR-4260	CLIP-seq
MIRT2572723	hsa-miR-4326	CLIP-seq
MIRT1155971	hsa-miR-4458	CLIP-seq
MIRT1155972	hsa-miR-4500	CLIP-seq
MIRT2044585	hsa-miR-4524	CLIP-seq
MIRT2572724	hsa-miR-4642	CLIP-seq
MIRT1155975	hsa-miR-4645-3p	CLIP-seq
MIRT1155976	hsa-miR-4651	CLIP-seq
MIRT1155978	hsa-miR-4664-5p	CLIP-seq
MIRT2572725	hsa-miR-4684-3p	CLIP-seq
MIRT2572726	hsa-miR-4699-3p	CLIP-seq
MIRT2572727	hsa-miR-4729	CLIP-seq
MIRT2572728	hsa-miR-4740-3p	CLIP-seq
MIRT1155983	hsa-miR-4744	CLIP-seq
MIRT2044588	hsa-miR-4777-5p	CLIP-seq
MIRT1155985	hsa-miR-4782-5p	CLIP-seq
MIRT1155987	hsa-miR-491-5p	CLIP-seq
MIRT2572729	hsa-miR-497	CLIP-seq
MIRT2572730	hsa-miR-503	CLIP-seq
MIRT2572731	hsa-miR-505	CLIP-seq
MIRT1155988	hsa-miR-516b	CLIP-seq
MIRT2044590	hsa-miR-518d-5p	CLIP-seq
MIRT2044591	hsa-miR-519b-5p	CLIP-seq
MIRT2044592	hsa-miR-519c-5p	CLIP-seq
MIRT2044593	hsa-miR-520c-5p	CLIP-seq
MIRT2044594	hsa-miR-526a	CLIP-seq
MIRT2572732	hsa-miR-548aa	CLIP-seq
MIRT2572733	hsa-miR-548ac	CLIP-seq
MIRT2572734	hsa-miR-548d-3p	CLIP-seq
MIRT2572735	hsa-miR-548z	CLIP-seq
MIRT2572736	hsa-miR-584	CLIP-seq
MIRT1155992	hsa-miR-608	CLIP-seq
MIRT2572737	hsa-miR-634	CLIP-seq
MIRT2572738	hsa-miR-646	CLIP-seq
MIRT1155994	hsa-miR-875-3p	CLIP-seq
MIRT1155995	hsa-miR-939	CLIP-seq
MIRT1155997	hsa-miR-98	CLIP-seq
MIRT1155936	hsa-let-7a	CLIP-seq
MIRT1155937	hsa-let-7b	CLIP-seq
MIRT1155938	hsa-let-7c	CLIP-seq
MIRT1155939	hsa-let-7d	CLIP-seq
MIRT1155940	hsa-let-7e	CLIP-seq
MIRT1155941	hsa-let-7f	CLIP-seq
MIRT1155942	hsa-let-7g	CLIP-seq
MIRT1155943	hsa-let-7i	CLIP-seq
MIRT2572713	hsa-miR-103a	CLIP-seq
MIRT2572714	hsa-miR-107	CLIP-seq
MIRT1155947	hsa-miR-1299	CLIP-seq
MIRT1155948	hsa-miR-1304	CLIP-seq
MIRT1155949	hsa-miR-144	CLIP-seq
MIRT2572715	hsa-miR-15a	CLIP-seq
MIRT2572716	hsa-miR-15b	CLIP-seq
MIRT2572717	hsa-miR-16	CLIP-seq
MIRT2572718	hsa-miR-195	CLIP-seq
MIRT2572719	hsa-miR-2053	CLIP-seq
MIRT1155953	hsa-miR-3150a-3p	CLIP-seq
MIRT2572720	hsa-miR-3160-5p	CLIP-seq
MIRT1155954	hsa-miR-3170	CLIP-seq
MIRT1155955	hsa-miR-3175	CLIP-seq
MIRT1155957	hsa-miR-342-5p	CLIP-seq
MIRT1155965	hsa-miR-3927	CLIP-seq
MIRT2572721	hsa-miR-409-3p	CLIP-seq
MIRT2572722	hsa-miR-424	CLIP-seq
MIRT1155967	hsa-miR-4260	CLIP-seq
MIRT2572723	hsa-miR-4326	CLIP-seq
MIRT1155971	hsa-miR-4458	CLIP-seq
MIRT1155972	hsa-miR-4500	CLIP-seq
MIRT2044585	hsa-miR-4524	CLIP-seq
MIRT2572724	hsa-miR-4642	CLIP-seq
MIRT1155975	hsa-miR-4645-3p	CLIP-seq
MIRT1155976	hsa-miR-4651	CLIP-seq
MIRT1155978	hsa-miR-4664-5p	CLIP-seq
MIRT2572725	hsa-miR-4684-3p	CLIP-seq
MIRT2572726	hsa-miR-4699-3p	CLIP-seq
MIRT2572727	hsa-miR-4729	CLIP-seq
MIRT2572728	hsa-miR-4740-3p	CLIP-seq
MIRT1155983	hsa-miR-4744	CLIP-seq
MIRT2044588	hsa-miR-4777-5p	CLIP-seq
MIRT1155985	hsa-miR-4782-5p	CLIP-seq
MIRT1155987	hsa-miR-491-5p	CLIP-seq
MIRT2572729	hsa-miR-497	CLIP-seq
MIRT2572730	hsa-miR-503	CLIP-seq
MIRT2572731	hsa-miR-505	CLIP-seq
MIRT1155988	hsa-miR-516b	CLIP-seq
MIRT2044590	hsa-miR-518d-5p	CLIP-seq
MIRT2044591	hsa-miR-519b-5p	CLIP-seq
MIRT2044592	hsa-miR-519c-5p	CLIP-seq
MIRT2044593	hsa-miR-520c-5p	CLIP-seq
MIRT2044594	hsa-miR-526a	CLIP-seq
MIRT2572732	hsa-miR-548aa	CLIP-seq
MIRT2572733	hsa-miR-548ac	CLIP-seq
MIRT2572734	hsa-miR-548d-3p	CLIP-seq
MIRT2572735	hsa-miR-548z	CLIP-seq
MIRT2572736	hsa-miR-584	CLIP-seq
MIRT1155992	hsa-miR-608	CLIP-seq
MIRT2572737	hsa-miR-634	CLIP-seq
MIRT2572738	hsa-miR-646	CLIP-seq
MIRT1155994	hsa-miR-875-3p	CLIP-seq
MIRT1155995	hsa-miR-939	CLIP-seq
MIRT1155997	hsa-miR-98	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11802782, 15364909, 19071123, 19909339, 22653443
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15364909
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IDA	15364909
GO:0030425	Component	Dendrite	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045177	Component	Apical part of cell	IBA
GO:0045202	Component	Synapse	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0120192	Process	Tight junction assembly	IBA

Other IDs

• MIM: 603785
• HGNC: 7208
• e!Ensembl: ENSG00000107186

Protein

• UniProt ID: O75970
• Protein name: Multiple PDZ domain protein (Multi-PDZ domain protein 1)
• Protein 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
• PDB: 2FCF , 2FNE , 2IWN , 2IWO , 2IWP , 2IWQ , 2O2T , 2OPG , 2QG1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	1987 → 2069	PDZ domain	Domain
  PF00595	PDZ	1725 → 1804	PDZ domain	Domain
  PF00595	PDZ	1151 → 1240	PDZ domain	Domain
  PF00595	PDZ	1862 → 1945	PDZ domain	Domain
  PF00595	PDZ	137 → 221	PDZ domain	Domain
  PF00595	PDZ	376 → 460	PDZ domain	Domain
  PF00595	PDZ	1627 → 1709	PDZ domain	Domain
  PF00595	PDZ	700 → 784	PDZ domain	Domain
  PF00595	PDZ	257 → 334	PDZ domain	Domain
  PF00595	PDZ	1008 → 1080	PDZ domain	Domain
  PF00595	PDZ	1482 → 1561	PDZ domain	Domain
  PF00595	PDZ	1350 → 1429	PDZ domain	Domain
  PF00595	PDZ	554 → 630	PDZ domain	Domain
  PF09045	L27_2	6 → 63	L27_2	Domain
  PF16667	MPDZ_u10	1562 → 1626	Unstructured region 10 on multiple PDZ protein	Disordered

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:9537516}.
• Sequence:

  MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKD
  QVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACD
  EFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDG
  RLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAA
  STISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGD
  HILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPE
  LRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDG
  RIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDA
  DLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTK
  WQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELL
  EVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVD
  LGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDP
  IDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVR
  IGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDEST
  FESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSL
  EELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSE
  VISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGM
  TVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLI
  GPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQN
  TAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNG
  TLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYP
  KYNFSSTNPFADSLQINADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKI
  SQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGI
  DPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMA
  VCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEE
  DTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTI
  HAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATC
  PIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEV
  NGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSI
  VGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVT
  LEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGL
  RTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTS
  TEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDL
  GPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAV
  NGQSLEGVTHEEAVAILKRTKGTVTLMVLS

• Sequence length: 2070

Pathways

KEGG Pathway:

Tight junction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hydrocephalus, nonsyndromic, autosomal recessive 2	Pathogenic; Likely pathogenic	rs2131610068, rs1950043713, rs775394111, rs2135678282, rs571799365, rs1267168609, rs2131668162, rs770258839, rs751161649, rs2495861105, rs2497668341, rs746360632, rs797045095, rs797045707, rs1161458067, rs2494469980, rs781251438, rs922703465, rs376078512, rs372127610, rs1587149916, rs1586841546, rs747068627, rs767038098, rs1951349487, rs772351764, rs1956840371	RCV001644991 RCV001331120 RCV005635444 RCV001780300 RCV002221632 RCV001784669 RCV005859682 RCV005412313 RCV003146293 RCV002280245 RCV002280246 RCV002289171 RCV000190604 RCV000193063 RCV003445345 RCV003988686 RCV000660885 RCV000660886 RCV000660887 RCV000043475 RCV000991394 RCV001029757 RCV001194638 RCV001194639 RCV001251107 RCV001261561 RCV001283804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MPDZ-related disorder	Likely pathogenic; Pathogenic	rs775394111, rs2135678282, rs200955619, rs755276577, rs747068627	RCV003426291 RCV004731141 RCV003401914 RCV003898843 RCV003396804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (22)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	36543923, 38958117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	30573740	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant retinitis pigmentosa	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL COMMUNICATING HYDROCEPHALUS	—	Disgenet, Orphanet Disgenet, Orphanet	23240096	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hydrocephalus	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEMENTIA	—	GWAS catalog	36543923	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	38958117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Likely benign	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonsyndromic hearing impairment	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	14960011	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TRIM71 3 shared diseasesCongenital communicating hydrocephalus, Congenital hydrocephalus, Hydrocephalus 6 shared evidence sourcesDisgenet (Congenital communicating hydrocephalus), Orphanet (Congenital communicating hydrocephalus), Disgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus), HPO (Congenital hydrocephalus) Related via 3 shared diseases including Congenital communicating hydrocephalus, Congenital hydrocephalus — evidence mostly Disgenet. SMARCC1 2 shared diseasesCongenital hydrocephalus, Hydrocephalus 3 shared evidence sourcesDisgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus) Related via 2 shared diseases including Congenital hydrocephalus, Hydrocephalus — evidence mostly Disgenet. CCDC88C 2 shared diseasesCongenital hydrocephalus, Hydrocephalus 4 shared evidence sourcesDisgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus), HPO (Congenital hydrocephalus) Related via 2 shared diseases including Congenital hydrocephalus, Hydrocephalus — evidence mostly Disgenet. WDR81 3 shared diseasesCongenital communicating hydrocephalus, Congenital hydrocephalus, Hydrocephalus 5 shared evidence sourcesOrphanet (Congenital communicating hydrocephalus), Disgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus), HPO (Congenital hydrocephalus) Related via 3 shared diseases including Congenital communicating hydrocephalus, Congenital hydrocephalus — evidence mostly Disgenet. L1CAM 2 shared diseasesCongenital hydrocephalus, Hydrocephalus 4 shared evidence sourcesDisgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), HPO (Congenital hydrocephalus), CTD (Congenital hydrocephalus) Related via 2 shared diseases including Congenital hydrocephalus, Hydrocephalus — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TRIM71	3	["Congenital communicating hydrocephalus","Congenital hydrocephalus","Hydrocephalus"]	0	[]	6	["Disgenet (Congenital communicating hydrocephalus)","Orphanet (Congenital communicating hydrocephalus)","Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)","HPO (Congenital hydrocephalus)"]
SMARCC1	2	["Congenital hydrocephalus","Hydrocephalus"]	0	[]	3	["Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)"]
CCDC88C	2	["Congenital hydrocephalus","Hydrocephalus"]	0	[]	4	["Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)","HPO (Congenital hydrocephalus)"]
WDR81	3	["Congenital communicating hydrocephalus","Congenital hydrocephalus","Hydrocephalus"]	0	[]	5	["Orphanet (Congenital communicating hydrocephalus)","Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)","HPO (Congenital hydrocephalus)"]
L1CAM	2	["Congenital hydrocephalus","Hydrocephalus"]	0	[]	4	["Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","HPO (Congenital hydrocephalus)","CTD (Congenital hydrocephalus)"]

Diseases Linked via Similar Genes

Global developmental delay Linked via 2 of 5 related genesSMARCC1, L1CAM Gout Linked via 2 of 5 related genesSMARCC1, WDR81 Cerebellar ataxia Linked via 2 of 5 related genesWDR81, L1CAM Attention deficit hyperactivity disorder Linked via 1 of 5 related genesTRIM71 Colorectal cancer Linked via 1 of 5 related genesTRIM71

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Global developmental delay	2	["SMARCC1","L1CAM"]
Gout	2	["SMARCC1","WDR81"]
Cerebellar ataxia	2	["WDR81","L1CAM"]
Attention deficit hyperactivity disorder	1	["TRIM71"]
Colorectal cancer	1	["TRIM71"]