Q9H7P9 (PKHG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 81.
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: Pleckstrin homology domain-containing family G member 2 Short name=PH domain-containing family G member 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 | 1386 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May be a transforming oncogene with exchange activity for CDC42 By similarity. May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein). Ref.5 |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. |
| Sequence caution | The sequence BAB15364.1 differs from that shown. Reason: Frameshift at position 84. The sequence BAB15719.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Tumor suppressor |
| Molecular function | Guanine-nucleotide releasing factor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | apoptotic signaling pathway Traceable author statement. Source: Reactome neurotrophin TRK receptor signaling pathwayTraceable author statement. Source: Reactome regulation of Rho protein signal transductionInferred from electronic annotation. Source: InterPro regulation of small GTPase mediated signal transductionTraceable author statement. Source: Reactome small GTPase mediated signal transductionTraceable author statement. Source: Reactome |
| Cellular_component | cytosol Traceable author statement. Source: Reactome |
| Molecular_function | Rho guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: InterPro phospholipid bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H7P9-1) 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. | ||||||
| Isoform 2 (identifier: Q9H7P9-2) The sequence of this isoform differs from the canonical sequence as follows: 560-1368: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9H7P9-3) The sequence of this isoform differs from the canonical sequence as follows: 468-496: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1386 | 1386 | Pleckstrin homology domain-containing family G member 2 | PRO_0000306861 | |||||
Regions | |||||||||
| Domain | 102 – 283 | 182 | DH | ||||||
| Domain | 313 – 411 | 99 | PH | ||||||
| Compositional bias | 593 – 600 | 8 | Poly-Glu | ||||||
| Compositional bias | 1067 – 1184 | 118 | Pro-rich | ||||||
| Compositional bias | 1319 – 1328 | 10 | Poly-Pro | ||||||
| Compositional bias | 1344 – 1347 | 4 | Poly-Gly | ||||||
Amino acid modifications | |||||||||
| Modified residue | 445 | 1 | Phosphothreonine Ref.6 | ||||||
| Modified residue | 450 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 1257 | 1 | Phosphothreonine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 468 – 496 | 29 | Missing in isoform 3. | VSP_028529 | |||||
| Alternative sequence | 560 – 1368 | 809 | Missing in isoform 2. | VSP_028530 | |||||
| Natural variant | 540 | 1 | T → I. Corresponds to variant rs35904695 [ dbSNP | Ensembl ]. | VAR_035324 | |||||
| Natural variant | 622 | 1 | I → V. Corresponds to variant rs16973407 [ dbSNP | Ensembl ]. | VAR_035325 | |||||
| Natural variant | 647 | 1 | R → H. Ref.4 Corresponds to variant rs10407035 [ dbSNP | Ensembl ]. | VAR_035326 | |||||
| Natural variant | 992 | 1 | R → K. Ref.1 Ref.4 Corresponds to variant rs31726 [ dbSNP | Ensembl ]. | VAR_035327 | |||||
| Natural variant | 1302 | 1 | A → T. Corresponds to variant rs34603507 [ dbSNP | Ensembl ]. | VAR_035328 | |||||
| Natural variant | 1329 | 1 | P → A. Ref.1 Ref.4 Corresponds to variant rs31728 [ dbSNP | Ensembl ]. | VAR_035329 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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 1 AND 2), VARIANTS LYS-992 AND ALA-1329. Tissue: Spleen. |
| [2] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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] OF 105-1386 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-1386 (ISOFORM 1), VARIANTS HIS-647; LYS-992 AND ALA-1329. Tissue: Pancreas. |
| [5] | "Heterotrimeric G protein betagamma subunits stimulate FLJ00018, a guanine nucleotide exchange factor for Rac1 and Cdc42." Ueda H., Nagae R., Kozawa M., Morishita R., Kimura S., Nagase T., Ohara O., Yoshida S., Asano T. J. Biol. Chem. 283:1946-1953(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [6] | "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 THR-445 AND SER-450, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [7] | "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 THR-1257, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK024429 mRNA. Translation: BAB15719.1. Different initiation. AK026111 mRNA. Translation: BAB15364.1. Frameshift. AC011500 Genomic DNA. No translation available. CH471126 Genomic DNA. Translation: EAW56888.1. BC013426 mRNA. Translation: AAH13426.2. BC015174 mRNA. Translation: AAH15174.1. BC075858 mRNA. Translation: AAH75858.1. |
| IPI | IPI00303373. IPI00645390. IPI00867660. |
| RefSeq | NP_073746.2. NM_022835.2. |
| UniGene | Hs.631574. |
3D structure databases | |
| ProteinModelPortal | Q9H7P9. |
| SMR | Q9H7P9. Positions 91-407. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H7P9. 3 interactions. |
| STRING | 9606.ENSP00000386733. |
PTM databases | |
| PhosphoSite | Q9H7P9. |
Polymorphism databases | |
| DMDM | 296439273. |
Proteomic databases | |
| PaxDb | Q9H7P9. |
| PRIDE | Q9H7P9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000378550; ENSP00000367812; ENSG00000090924. ENST00000409794; ENSP00000386733; ENSG00000090924. ENST00000409797; ENSP00000386492; ENSG00000090924. ENST00000425673; ENSP00000392906; ENSG00000090924. |
| GeneID | 64857. |
| KEGG | hsa:64857. |
| UCSC | uc002olj.3. human. uc010xuz.2. human. uc010xva.2. human. |
Organism-specific databases | |
| CTD | 64857. |
| GeneCards | GC19P039903. |
| H-InvDB | HIX0015119. |
| HGNC | HGNC:29515. PLEKHG2. |
| HPA | HPA017973. HPA048054. |
| MIM | 611893. gene. |
| neXtProt | NX_Q9H7P9. |
| PharmGKB | PA134893492. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG77237. |
| HOVERGEN | HBG107024. |
| InParanoid | Q9H7P9. |
| OMA | VEDYLGP. |
| OrthoDB | EOG42820S. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| ArrayExpress | Q9H7P9. |
| Bgee | Q9H7P9. |
| CleanEx | HS_PLEKHG2. |
| Genevestigator | Q9H7P9. |
Family and domain databases | |
| Gene3D | 1.20.900.10. 1 hit. 2.30.29.30. 1 hit. |
| InterPro | IPR000219. DH-domain. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. [Graphical view] |
| Pfam | PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view] |
| SUPFAM | SSF48065. DH-domain. 1 hit. |
| PROSITE | PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 64857. |
| NextBio | 67003. |
| SOURCE | Search... |
Entry information
| Entry name | PKHG2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H7P9 Secondary accession number(s): B8ZZK6 Q9H699 | ||||||||
| 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 19 Human chromosome 19: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
