MPDZ (multiple PDZ domain crumbs cell polarity complex component)

Gene

• Entrez ID: 8777
• Gene name: Multiple PDZ domain crumbs cell polarity complex component
• Gene symbol: MPDZ
• Synonyms (NCBI Gene): HYC2, MUPP1
• Disease Acronyms (UniProt): HYC2
• 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

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

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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11802782, 15364909, 19071123, 19909339, 22653443
GO:0005737	Component	Cytoplasm	IDA	15364909
GO:0005923	Component	Bicellular tight junction	IEA
GO:0008022	Function	Protein C-terminus binding	IPI	11802782
GO:0014069	Component	Postsynaptic density	IEA
GO:0016032	Process	Viral process	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IDA	15364909
GO:0030425	Component	Dendrite	IEA

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

• 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:

Tight junction

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Lissencephaly	Lissencephaly	rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	14960011

Unknown
Disease term	Disease name	Evidence	References	Source
Hydrocephalus	hydrocephalus, nonsyndromic, autosomal recessive 2			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Capillary Malformation Arteriovenous Malformation	Associate	28460636
Cerebral Ventricle Neoplasms	Associate	40565599
Dermatitis Atopic	Associate	39245941
Hearing Loss	Associate	34946889
Hydrocephalus	Associate	28460636, 29499638, 40565599
Hydrocephalus X linked	Associate	36803301
Keratoconus	Associate	26040312, 28207827, 35305607
Pain	Associate	24275226
Polycythemia Vera	Associate	27132877
Pulmonary Atresia	Associate	36803301
Temporomandibular Joint Disorders	Associate	24275226
Thrombocythemia Essential	Associate	27132877