Q9UDY2 (ZO2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 142.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Tight junction protein ZO-2 Alternative name(s): Tight junction protein 2 Zona occludens protein 2 Zonula occludens protein 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1190 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a role in tight junctions and adherens junctions. |
| Subunit structure | Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus. Interacts with SCRIB. Ref.10 Ref.15 Ref.19 |
| Subcellular location | Cell junction › adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Cell junction › tight junction By similarity. Nucleus By similarity. Note: Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures By similarity. |
| Tissue specificity | This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain. Detected in brain and skeletal muscle. It is present almost exclusively in normal tissues. Isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. Not detected in brain and skeletal muscle. Found in normal as well as in most neoplastic tissues. Ref.2 |
| Involvement in disease | Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. |
| Sequence similarities | Belongs to the MAGUK family. Contains 1 guanylate kinase-like domain. Contains 3 PDZ (DHR) domains. Contains 1 SH3 domain. |
| Sequence caution | The sequence AAA61300.1 differs from that shown. Reason: Frameshift at positions 1086, 1092 and 1095. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction Cell membrane Membrane Nucleus Tight junction |
| Coding sequence diversity | Alternative promoter usage Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Repeat SH3 domain |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cellular component disassembly involved in execution phase of apoptosis Traceable author statement. Source: Reactome hippo signaling cascadeTraceable author statement. Source: Reactome |
| Cellular_component | adherens junction Inferred from electronic annotation. Source: UniProtKB-SubCell cytosolTraceable author statement. Source: Reactome nucleoplasmTraceable author statement. Source: Reactome plasma membraneInferred from direct assay. Source: HPA tight junctionInferred from direct assay PubMed 22006950. Source: MGI |
| Molecular_function | guanylate kinase activity Traceable author statement PubMed 8824195. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select] | ||||||
| Isoform A1 (identifier: Q9UDY2-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Note: Produced by alternative promoter usage. | ||||||
| Isoform A2 (identifier: Q9UDY2-2) The sequence of this isoform differs from the canonical sequence as follows: 961-1107: Missing. | ||||||
| Note: Produced by alternative splicing of isoform A1. | ||||||
| Isoform A3 (identifier: Q9UDY2-5) The sequence of this isoform differs from the canonical sequence as follows: 961-993: SIRKPSPEPRAQMRRAASSDQLRDNSPPPAFKP → VRRGRPRAGTGEPGVFLALSWTAVCSGCCGRHS 994-1190: Missing. | ||||||
| Note: Produced by alternative splicing of isoform A1. | ||||||
| Isoform C1 (identifier: Q9UDY2-3) The sequence of this isoform differs from the canonical sequence as follows: 1-23: Missing. | ||||||
| Note: Produced by alternative promoter usage. | ||||||
| Isoform C2 (identifier: Q9UDY2-4) The sequence of this isoform differs from the canonical sequence as follows: 1-23: Missing. 961-1107: Missing. | ||||||
| Note: Produced by alternative splicing of isoform C1. | ||||||
| Isoform 6 (identifier: Q9UDY2-6) The sequence of this isoform differs from the canonical sequence as follows: 1-19: MPVRGDRGFPPRRELSGWL → MKTAQALHRMWIQAVKKLRRWKG 961-997: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q9UDY2-7) The sequence of this isoform differs from the canonical sequence as follows: 1-20: MPVRGDRGFPPRRELSGWLR → MKTAQALHRMWIQAVKKLRRWKGRVSPSASSPLVFPNLSSWEGEGSKTILT | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||
Molecule processing | |||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1190 | 1190 | Tight junction protein ZO-2 | PRO_0000094543 | |||||||||||||||||||
Regions | |||||||||||||||||||||||
| Domain | 33 – 120 | 88 | PDZ 1 | ||||||||||||||||||||
| Domain | 307 – 385 | 79 | PDZ 2 | ||||||||||||||||||||
| Domain | 509 – 590 | 82 | PDZ 3 | ||||||||||||||||||||
| Domain | 604 – 669 | 66 | SH3 | ||||||||||||||||||||
| Domain | 678 – 876 | 199 | Guanylate kinase-like | ||||||||||||||||||||
| Region | 1188 – 1190 | 3 | Interaction with SCRIB | ||||||||||||||||||||
| Compositional bias | 1162 – 1165 | 4 | Poly-Glu | ||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||
| Modified residue | 130 | 1 | Phosphoserine Ref.11 Ref.17 Ref.18 | ||||||||||||||||||||
| Modified residue | 153 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||
| Modified residue | 168 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||
| Modified residue | 170 | 1 | Phosphoserine Ref.13 Ref.17 | ||||||||||||||||||||
| Modified residue | 174 | 1 | Phosphoserine Ref.12 Ref.13 Ref.17 Ref.18 | ||||||||||||||||||||
| Modified residue | 200 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||
| Modified residue | 220 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||
| Modified residue | 244 | 1 | Phosphoserine Ref.12 Ref.13 Ref.16 Ref.17 Ref.18 | ||||||||||||||||||||
| Modified residue | 265 | 1 | Phosphotyrosine By similarity | ||||||||||||||||||||
| Modified residue | 266 | 1 | Phosphoserine Ref.13 | ||||||||||||||||||||
| Modified residue | 292 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 294 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 296 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 400 | 1 | Phosphoserine Ref.13 | ||||||||||||||||||||
| Modified residue | 430 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||
| Modified residue | 455 | 1 | Phosphothreonine Ref.13 | ||||||||||||||||||||
| Modified residue | 702 | 1 | Phosphoserine Ref.12 | ||||||||||||||||||||
| Modified residue | 920 | 1 | Phosphoserine Ref.13 Ref.17 | ||||||||||||||||||||
| Modified residue | 925 | 1 | Phosphothreonine Ref.13 Ref.17 | ||||||||||||||||||||
| Modified residue | 933 | 1 | Phosphothreonine Ref.13 | ||||||||||||||||||||
| Modified residue | 966 | 1 | Phosphoserine Ref.12 | ||||||||||||||||||||
| Modified residue | 978 | 1 | Phosphoserine Ref.13 Ref.18 | ||||||||||||||||||||
| Modified residue | 986 | 1 | Phosphoserine Ref.12 Ref.13 Ref.17 Ref.18 | ||||||||||||||||||||
| Modified residue | 1006 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 1067 | 1 | Phosphoserine Ref.13 Ref.18 | ||||||||||||||||||||
| Modified residue | 1068 | 1 | Phosphoserine Ref.13 Ref.18 | ||||||||||||||||||||
| Modified residue | 1118 | 1 | Phosphotyrosine By similarity | ||||||||||||||||||||
| Modified residue | 1131 | 1 | Phosphothreonine Ref.13 | ||||||||||||||||||||
| Modified residue | 1147 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||
| Modified residue | 1159 | 1 | Phosphoserine Ref.13 Ref.16 Ref.17 Ref.18 | ||||||||||||||||||||
Natural variations | |||||||||||||||||||||||
| Alternative sequence | 1 – 23 | 23 | Missing in isoform C1 and isoform C2. | VSP_006953 | |||||||||||||||||||
| Alternative sequence | 1 – 20 | 20 | MPVRG…SGWLR → MKTAQALHRMWIQAVKKLRR WKGRVSPSASSPLVFPNLSS WEGEGSKTILT in isoform 7. | VSP_046114 | |||||||||||||||||||
| Alternative sequence | 1 – 19 | 19 | MPVRG…LSGWL → MKTAQALHRMWIQAVKKLRR WKG in isoform 6. | VSP_046115 | |||||||||||||||||||
| Alternative sequence | 961 – 1107 | 147 | Missing in isoform A2 and isoform C2. | VSP_003149 | |||||||||||||||||||
| Alternative sequence | 961 – 997 | 37 | Missing in isoform 6. | VSP_046116 | |||||||||||||||||||
| Alternative sequence | 961 – 993 | 33 | SIRKP…PAFKP → VRRGRPRAGTGEPGVFLALS WTAVCSGCCGRHS in isoform A3. | VSP_007835 | |||||||||||||||||||
| Alternative sequence | 994 – 1190 | 197 | Missing in isoform A3. | VSP_007836 | |||||||||||||||||||
| Natural variant | 48 | 1 | V → A in FHCA. Ref.20 | VAR_016004 | |||||||||||||||||||
| Natural variant | 482 | 1 | D → E. Ref.1 Ref.2 Ref.3 Ref.4 Ref.21 Corresponds to variant rs2309428 [ dbSNP | Ensembl ]. | VAR_030798 | |||||||||||||||||||
| Natural variant | 668 | 1 | M → I. Ref.4 Corresponds to variant rs34774441 [ dbSNP | Ensembl ]. | VAR_046675 | |||||||||||||||||||
| Natural variant | 711 | 1 | S → P. Corresponds to variant rs35797487 [ dbSNP | Ensembl ]. | VAR_046676 | |||||||||||||||||||
| Natural variant | 822 | 1 | K → N. Ref.1 Corresponds to variant rs1049624 [ dbSNP | Ensembl ]. | VAR_046677 | |||||||||||||||||||
| Natural variant | 829 | 1 | N → D. Ref.1 Corresponds to variant rs1049625 [ dbSNP | Ensembl ]. | VAR_046678 | |||||||||||||||||||
Experimental info | |||||||||||||||||||||||
| Sequence conflict | 411 | 1 | N → T in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 411 | 1 | N → T in AAM28524. Ref.3 | ||||||||||||||||||||
| Sequence conflict | 718 | 1 | A → V in BAH13722. Ref.4 | ||||||||||||||||||||
| Sequence conflict | 782 | 1 | I → V in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 782 | 1 | I → V in AAM28524. Ref.3 | ||||||||||||||||||||
| Sequence conflict | 808 | 1 | P → S in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 812 – 814 | 3 | FFN → SFT in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 834 | 1 | K → N in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 842 | 1 | Q → H in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 996 | 1 | P → S in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 1093 | 1 | R → G in AAA61300. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 1110 | 1 | I → L in BAH13722. Ref.4 | ||||||||||||||||||||
| Sequence conflict | 1136 | 1 | S → N in AAB41794. Ref.9 | ||||||||||||||||||||
| Sequence conflict | 1155 – 1158 | 4 | GSYG → RSFC in AAB41794. Ref.9 | ||||||||||||||||||||
| Sequence conflict | 1165 – 1167 | 3 | EYR → IRS in AAB41794. Ref.9 | ||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||
| Beta strand | 306 – 311 | 6 | |||||||||||||||||||||
| Beta strand | 315 – 317 | 3 | |||||||||||||||||||||
| Beta strand | 321 – 332 | 12 | |||||||||||||||||||||
| Helix | 337 – 341 | 5 | |||||||||||||||||||||
| Beta strand | 349 – 353 | 5 | |||||||||||||||||||||
| Helix | 363 – 372 | 10 | |||||||||||||||||||||
| Turn | 373 – 375 | 3 | |||||||||||||||||||||
| Beta strand | 376 – 381 | 6 | |||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb." Duclos F., Rodius F., Wrogemann K., Mandel J.-L., Koenig M. Hum. Mol. Genet. 3:909-914(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A1), VARIANTS GLU-482; ASN-822 AND ASP-829. Tissue: Brain. |
| [2] | "Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues." Chlenski A., Ketels K.V., Korovaitseva G.I., Talamonti M.S., Oyasu R., Scarpelli D.G. Biochim. Biophys. Acta 1493:319-324(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A1; C1; A2 AND C2), TISSUE SPECIFICITY, ALTERNATIVE PROMOTER USAGE, VARIANT GLU-482. Tissue: Pancreas. |
| [3] | "LIM protein KyoT2 interacts with human tight junction protein ZO-2-i3." Yan H.H., Rong L., Qiang S., Jian W., Peng Z., Hua H., Hui Z.W. Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A3), VARIANT GLU-482. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 7), VARIANTS GLU-482 AND ILE-668. Tissue: Brain and Testis. |
| [5] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A1). Tissue: Testis. |
| [7] | "Tight junction protein ZO-2 is differentially expressed in normal pancreatic ducts compared to human pancreatic adenocarcinoma." Chlenski A., Ketels K.V., Tsao M.-S., Talamonti M.S., Anderson M.R., Oyasu R., Scarpelli D.G. Int. J. Cancer 82:137-144(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-166 (ISOFORMS A1/A2/A3), NUCLEOTIDE SEQUENCE [MRNA] OF 1-119 (ISOFORMS C1/C2). Tissue: Pancreas. |
| [8] | "Zo-2 gene alternative promoters in normal and neoplastic human pancreatic duct cells." Chlenski A., Ketels K.V., Engeriser J.L., Talamonti M.S., Tsao M.-S., Koutnikova H., Oyasu R., Scarpelli D.G. Int. J. Cancer 83:349-358(1999) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE (ISOFORMS A1 AND C1), ALTERNATIVE PROMOTER USAGE. Tissue: Pancreas. |
| [9] | Adams L.D., Werny I., Schwartz S.M. Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1047-1167. Tissue: Aortic smooth muscle. |
| [10] | "hScrib interacts with ZO-2 at the cell-cell junctions of epithelial cells." Metais J.-Y., Navarro C., Santoni M.-J., Audebert S., Borg J.-P. FEBS Lett. 579:3725-3730(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SCRIB. |
| [11] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-130, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-174; SER-244; SER-702; SER-966 AND SER-986, MASS SPECTROMETRY. Tissue: Platelet. |
| [13] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-170; SER-174; SER-244; SER-266; SER-400; THR-455; SER-920; THR-925; THR-933; SER-978; SER-986; SER-1067; SER-1068; THR-1131 AND SER-1159, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [14] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Liver. |
| [15] | "Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NACos)." Aho S., Lupo J., Coly P.-A., Sabine A., Castellazzi M., Morand P., Sergeant A., Manet E., Boyer V., Gruffat H. Biol. Cell 101:319-334(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH UBN1. |
| [16] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-244 AND SER-1159, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [17] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-130; SER-170; SER-174; SER-244; SER-920; THR-925; SER-986 AND SER-1159, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [18] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-130; SER-153; SER-168; SER-174; SER-200; SER-220; SER-244; SER-430; SER-978; SER-986; SER-1067; SER-1068; SER-1147 AND SER-1159, MASS SPECTROMETRY. |
| [19] | "Domain-swapped dimerization of the second PDZ domain of ZO2 may provide a structural basis for the polymerization of claudins." Wu J., Yang Y., Zhang J., Ji P., Du W., Jiang P., Xie D., Huang H., Wu M., Zhang G., Wu J., Shi Y. J. Biol. Chem. 282:35988-35999(2007) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 306-385, SUBUNIT. |
| [20] | "Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT." Carlton V.E.H., Harris B.Z., Puffenberger E.G., Batta A.K., Knisely A.S., Robinson D.L., Strauss K.A., Shneider B.L., Lim W.A., Salen G., Morton D.H., Bull L.N. Nat. Genet. 34:91-96(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FHCA ALA-48. |
| [21] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-482, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | L27476 mRNA. Translation: AAA61300.1. Frameshift. AF177533 AF177532 Genomic DNA. Translation: AAD20387.2.AF177533 AF177532 Genomic DNA. Translation: AAC02527.2.AF177533 AF177532 Genomic DNA. Translation: AAD56218.2.AF177533 AF177532 Genomic DNA. Translation: AAD56219.2.AF489824 mRNA. Translation: AAM28524.1. AK295034 mRNA. Translation: BAH11954.1. AK302483 mRNA. Translation: BAH13722.1. AL162730 Genomic DNA. No translation available. AL358113 Genomic DNA. Translation: CAH70867.1. AL358113 Genomic DNA. Translation: CAH70868.1. AL358113 Genomic DNA. Translation: CAM13389.1. AL590238 Genomic DNA. No translation available. BC027592 mRNA. Translation: AAH27592.1. AF083892 mRNA. Translation: AAC33121.1. AF083893 mRNA. Translation: AAC33122.1. U84581 mRNA. Translation: AAB41794.1. | ||||||||||||||||||
| IPI | IPI00003843. IPI00216245. IPI00216246. IPI00332453. IPI00797934. IPI00955022. IPI00955040. | ||||||||||||||||||
| PIR | I54378. | ||||||||||||||||||
| RefSeq | NP_001163886.1. NM_001170415.1. NP_001163887.1. NM_001170416.1. NP_001164101.1. NM_001170630.1. NP_004808.2. NM_004817.3. NP_963923.1. NM_201629.3. | ||||||||||||||||||
| UniGene | Hs.50382. Hs.736223. | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||
| ProteinModelPortal | Q9UDY2. | ||||||||||||||||||
| SMR | Q9UDY2. Positions 21-129, 306-384, 508-887. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | Q9UDY2. 4 interactions. | ||||||||||||||||||
| MINT | MINT-1207536. | ||||||||||||||||||
| STRING | 9606.ENSP00000366453. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | Q9UDY2. | ||||||||||||||||||
Polymorphism databases | |||||||||||||||||||
| DMDM | 13634076. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PaxDb | Q9UDY2. | ||||||||||||||||||
| PRIDE | Q9UDY2. | ||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||
| DNASU | 9414. | ||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000265384; ENSP00000265384; ENSG00000119139. ENST00000348208; ENSP00000345893; ENSG00000119139. ENST00000377245; ENSP00000366453; ENSG00000119139. ENST00000453658; ENSP00000392178; ENSG00000119139. ENST00000535702; ENSP00000442090; ENSG00000119139. ENST00000539225; ENSP00000438262; ENSG00000119139. | ||||||||||||||||||
| GeneID | 9414. | ||||||||||||||||||
| KEGG | hsa:9414. | ||||||||||||||||||
| UCSC | uc004ahd.3. human. uc004ahe.3. human. uc004ahf.3. human. uc011lrs.2. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 9414. | ||||||||||||||||||
| GeneCards | GC09P071766. | ||||||||||||||||||
| HGNC | HGNC:11828. TJP2. | ||||||||||||||||||
| HPA | CAB009228. HPA001813. | ||||||||||||||||||
| MIM | 607709. gene. 607748. phenotype. | ||||||||||||||||||
| neXtProt | NX_Q9UDY2. | ||||||||||||||||||
| Orphanet | 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA. 238475. Familial hypercholanemia. | ||||||||||||||||||
| PharmGKB | PA36533. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | NOG239704. | ||||||||||||||||||
| HOVERGEN | HBG017627. | ||||||||||||||||||
| InParanoid | Q9UDY2. | ||||||||||||||||||
| KO | K06098. | ||||||||||||||||||
| OrthoDB | EOG4Q2DDQ. | ||||||||||||||||||
| PhylomeDB | Q9UDY2. | ||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||
| Reactome | REACT_111102. Signal Transduction. REACT_578. Apoptosis. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | Q9UDY2. | ||||||||||||||||||
| Bgee | Q9UDY2. | ||||||||||||||||||
| CleanEx | HS_TJP2. | ||||||||||||||||||
| Genevestigator | Q9UDY2. | ||||||||||||||||||
| GermOnline | ENSG00000119139. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR008144. Guanylate_kin. IPR008145. Guanylate_kin/L-typ_Ca_channel. IPR001478. PDZ. IPR011511. SH3_2. IPR001452. SH3_domain. IPR005417. ZonOcculdens. IPR005419. ZonOcculS2. [Graphical view] | ||||||||||||||||||
| Pfam | PF00625. Guanylate_kin. 1 hit. PF00595. PDZ. 3 hits. PF07653. SH3_2. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR01597. ZONOCCLUDNS. PR01599. ZONOCCLUDNS2. | ||||||||||||||||||
| SMART | SM00072. GuKc. 1 hit. SM00228. PDZ. 3 hits. SM00326. SH3. 1 hit. [Graphical view] | ||||||||||||||||||
| SUPFAM | SSF50156. PDZ. 3 hits. SSF50044. SH3. 1 hit. | ||||||||||||||||||
| PROSITE | PS00856. GUANYLATE_KINASE_1. False negative. PS50052. GUANYLATE_KINASE_2. 1 hit. PS50106. PDZ. 3 hits. PS50002. SH3. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other | |||||||||||||||||||
| EvolutionaryTrace | Q9UDY2. | ||||||||||||||||||
| GenomeRNAi | 9414. | ||||||||||||||||||
| NextBio | 35268. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | ZO2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UDY2 Secondary accession number(s): A2A3H9 Q9UDY1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
