Reviewed,
UniProtKB/Swiss-Prot Q9UDY2 (ZO2_HUMAN)
Last modified
November 25, 2008.
Version 92.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Tight junction protein ZO-2 Alternative name(s): Zonula occludens protein 2 Zona occludens protein 2 Tight junction protein 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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 and SAFB. Interaction with SAFB occurs in the nucleus. |
| Subcellular location | Cell junction › adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic sideBy similarity. Cell junction › tight junctionBy similarity. NucleusBy 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 whereas isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. In brain and skeletal muscle, only isoform A1 is detectable. Isoform C1 is found in normal as well as in most neoplastic tissues while isoform A1 is present almost exclusively in normal tissue. |
| Involvement in disease | Defects in TJP2 are involved in familial hypercholanemia (FHCA) [MIM:607748]. FHCA is 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 |
Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA nucleusInferred from electronic annotation. Source: UniProtKB-KW tight junctionInferred from electronic annotation. Source: InterPro |
| Molecular function | guanylate kinase activity Traceable author statement. Source: ProtInc protein bindingInferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| TRAF6 | Q9Y4K3 | 1 | EBI-1042602,EBI-359276 | |
| YWHAB | P31946 | 1 | EBI-1042602,EBI-359815 | |
| YWHAG | P61981 | 1 | EBI-1042602,EBI-359832 | |
| YWHAQ | P27348 | 1 | EBI-1042602,EBI-359854 | |
| YWHAZ | P63104 | 1 | EBI-1042602,EBI-347088 |
Alternative products
| This entry describes 5 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. | ||||||
| Notes: Produced by alternative promoter usage. | ||||||
| Isoform A2 (identifier: Q9UDY2-2) The sequence of this isoform differs from the canonical sequence as follows: 961-1108: Missing. | ||||||
| Notes: 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. | ||||||
| Notes: 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. | ||||||
| Notes: 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. 961-1108: Missing. | ||||||
| Notes: Produced by alternative splicing of isoform C1. |
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 | ||||||||||||||||||||
| Compositional bias | 1162 – 1165 | 4 | Poly-Glu | ||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||
| Modified residue | 130 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 168 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 170 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 174 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 192 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 244 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 261 | 1 | Phosphotyrosine | ||||||||||||||||||||
| Modified residue | 265 | 1 | Phosphotyrosine By similarity | ||||||||||||||||||||
| Modified residue | 266 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 296 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 394 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 398 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 400 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 415 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 440 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 441 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 445 | 1 | Phosphothreonine | ||||||||||||||||||||
| Modified residue | 455 | 1 | Phosphothreonine | ||||||||||||||||||||
| Modified residue | 574 | 1 | Phosphotyrosine | ||||||||||||||||||||
| Modified residue | 702 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 920 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 925 | 1 | Phosphothreonine | ||||||||||||||||||||
| Modified residue | 933 | 1 | Phosphothreonine | ||||||||||||||||||||
| Modified residue | 966 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 978 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 986 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 1067 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 1068 | 1 | Phosphoserine | ||||||||||||||||||||
| Modified residue | 1118 | 1 | Phosphotyrosine | ||||||||||||||||||||
| Modified residue | 1131 | 1 | Phosphothreonine | ||||||||||||||||||||
| Modified residue | 1159 | 1 | Phosphoserine | ||||||||||||||||||||
Natural variations | |||||||||||||||||||||||
| Alternative sequence | 1 – 23 | 23 | Missing in isoform C1 and isoform C2. | VSP_006953 | |||||||||||||||||||
| Alternative sequence | 961 – 1108 | 148 | Missing in isoform A2 and isoform C2. | VSP_003149 | |||||||||||||||||||
| 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. | VAR_016004 | |||||||||||||||||||
| Natural variant | 482 | 1 | E → D: dbSNP rs2309428. | VAR_030798 | |||||||||||||||||||
| Natural variant | 668 | 1 | M → I: dbSNP rs34774441. | VAR_046675 | |||||||||||||||||||
| Natural variant | 711 | 1 | S → P: dbSNP rs35797487. | VAR_046676 | |||||||||||||||||||
| Natural variant | 822 | 1 | K → N: dbSNP rs1049624. | VAR_046677 | |||||||||||||||||||
| Natural variant | 829 | 1 | N → D: dbSNP rs1049625. | 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 | 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 | 1136 | 1 | S → N in AAB41794. Ref.8 | ||||||||||||||||||||
| Sequence conflict | 1155 – 1158 | 4 | GSYG → RSFC in AAB41794. Ref.8 | ||||||||||||||||||||
| Sequence conflict | 1165 – 1167 | 3 | EYR → IRS Ref.8 | ||||||||||||||||||||
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 | |||||||||||||||||||||
| Beta strand | 375 – 381 | 7 | |||||||||||||||||||||
Sequences
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Clusters with