Q92833 (JARD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 110.
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: Protein Jumonji Alternative name(s): Jumonji/ARID domain-containing protein 2 | ||||
| Gene names |
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| 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 | 1246 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of 'Lys-27' of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling. Ref.7 |
| Subunit structure | Associates with a histone methyltransferase complex containing GLP1/EHMT1 and G9a/EHMT2. Interacts with SUZ12; the interaction is direct. Interacts with GATA4 (via the N-terminal region). Interacts with NKX2-5 (via the C-terminal region). Interacts with RB1. Interacts with ZNF496 By similarity. Associates with the PRC2 complex, which includes EED, EZH1, EZH2, SUZ12, RBBP4 and AEBP2; JARID2 is probably not a core component of the PRC2 complex and associates to PRC2 via its interaction with SUZ12. |
| Subcellular location | Nucleus. Note: Colocalizes with the PRC2 complex on chromatin. Ref.7 |
| Tissue specificity | During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells. |
| Domain | The ARID domain is required to target the PRC2 complex to its target genes By similarity. The GSGFP motif is required for the interaction with SUZ12 By similarity. |
| Sequence similarities | Contains 1 ARID domain. Contains 1 JmjC domain. Contains 1 JmjN domain. |
| Sequence caution | The sequence AAC50822.1 differs from that shown. Reason: Frameshift at position 1233. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q92833-1) 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: Q92833-2) The sequence of this isoform differs from the canonical sequence as follows: 1-60: MSKERPKRNI...GIAGSLKTVN → MAAPRVCQVQFLVAYLEEPGIE 949-1246: WYCIPAEEEN...SSSKSASSSS → CLSVEPVFPH...AWRGVLGPRL | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q92833-3) The sequence of this isoform differs from the canonical sequence as follows: 1-172: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1246 | 1246 | Protein Jumonji | PRO_0000200591 | |||||
Regions | |||||||||
| Domain | 557 – 598 | 42 | JmjN | ||||||
| Domain | 621 – 713 | 93 | ARID | ||||||
| Domain | 884 – 1048 | 165 | JmjC | ||||||
| Motif | 104 – 110 | 7 | Nuclear localization signal By similarity | ||||||
| Motif | 874 – 878 | 5 | GSGFP motif | ||||||
| Compositional bias | 1234 – 1246 | 13 | Poly-Ser | ||||||
Amino acid modifications | |||||||||
| Modified residue | 78 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 378 | 1 | N6-acetyllysine Ref.6 | ||||||
| Modified residue | 455 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 172 | 172 | Missing in isoform 3. | VSP_045041 | |||||
| Alternative sequence | 1 – 60 | 60 | MSKER…LKTVN → MAAPRVCQVQFLVAYLEEPG IE in isoform 2. | VSP_038756 | |||||
| Alternative sequence | 949 – 1246 | 298 | WYCIP…ASSSS → CLSVEPVFPHLSVAVGSIVD LGISFLPCGDTRVMYPVESV AWRGVLGPRL in isoform 2. | VSP_038757 | |||||
Experimental info | |||||||||
| Sequence conflict | 250 | 1 | K → E in BAH13011. Ref.2 | ||||||
| Sequence conflict | 599 | 1 | C → S in BAH13011. Ref.2 | ||||||
| Sequence conflict | 673 | 1 | D → E in AAC50822. Ref.1 | ||||||
| Sequence conflict | 681 | 1 | A → S in AAC50822. Ref.1 | ||||||
| Sequence conflict | 688 | 1 | R → K in AAC50822. Ref.1 | ||||||
| Sequence conflict | 692 | 1 | D → E in AAC50822. Ref.1 | ||||||
| Sequence conflict | 705 | 1 | L → I in AAC50822. Ref.1 | ||||||
| Sequence conflict | 754 | 1 | F → L in AAC50822. Ref.1 | ||||||
| Sequence conflict | 1212 | 1 | S → H in AAC50822. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of the human jumonji gene." Berge-Lefranc J.-L., Jay P., Massacrier A., Cau P., Mattei M.-G., Bauer S., Marsollier C., Berta P., Fontes M. Hum. Mol. Genet. 5:1637-1641(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "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; 2 AND 3). Tissue: Thymus and Trachea. |
| [3] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | 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]. |
| [5] | "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 1). Tissue: Mammary gland and Testis. |
| [6] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-378, MASS SPECTROMETRY. |
| [7] | "JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells." Pasini D., Cloos P.A., Walfridsson J., Olsson L., Bukowski J.P., Johansen J.V., Bak M., Tommerup N., Rappsilber J., Helin K. Nature 464:306-310(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, ASSOCIATION WITH THE PRC2 COMPLEX. |
| [8] | "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-78 AND SER-455, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U57592 mRNA. Translation: AAC50822.1. Frameshift. AK292861 mRNA. Translation: BAF85550.1. AK299349 mRNA. Translation: BAH13011.1. AK303610 mRNA. Translation: BAH13996.1. AL136162, AL021938 Genomic DNA. Translation: CAI15719.1. AL021938, AL136162 Genomic DNA. Translation: CAI19873.1. CH471087 Genomic DNA. Translation: EAW55357.1. BC046184 mRNA. Translation: AAH46184.1. BC046246 mRNA. Translation: AAH46246.1. |
| IPI | IPI00023756. IPI00871836. IPI00955447. |
| RefSeq | NP_001253969.1. NM_001267040.1. NP_004964.2. NM_004973.3. |
| UniGene | Hs.269059. |
3D structure databases | |
| ProteinModelPortal | Q92833. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-45494N. |
| IntAct | Q92833. 3 interactions. |
| STRING | 9606.ENSP00000341280. |
PTM databases | |
| PhosphoSite | Q92833. |
Polymorphism databases | |
| DMDM | 61252601. |
Proteomic databases | |
| PaxDb | Q92833. |
| PRIDE | Q92833. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000341776; ENSP00000341280; ENSG00000008083. ENST00000397311; ENSP00000380478; ENSG00000008083. |
| GeneID | 3720. |
| KEGG | hsa:3720. |
| UCSC | uc003nbj.3. human. |
Organism-specific databases | |
| CTD | 3720. |
| GeneCards | GC06P015246. |
| HGNC | HGNC:6196. JARID2. |
| HPA | HPA044909. |
| MIM | 601594. gene. |
| neXtProt | NX_Q92833. |
| PharmGKB | PA29995. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG327026. |
| HOGENOM | HOG000013203. |
| HOVERGEN | HBG052160. |
| InParanoid | Q92833. |
| KO | K11478. |
| OMA | QRLACIK. |
| OrthoDB | EOG4KKZ26. |
Gene expression databases | |
| ArrayExpress | Q92833. |
| Bgee | Q92833. |
| CleanEx | HS_JARID2. |
| Genevestigator | Q92833. |
| GermOnline | ENSG00000008083. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.150.60. 1 hit. |
| InterPro | IPR001606. ARID/BRIGHT_DNA-bd. IPR003347. JmjC_dom. IPR003349. TF_JmjN. IPR004198. Znf_C5HC2. [Graphical view] |
| Pfam | PF01388. ARID. 1 hit. PF02373. JmjC. 1 hit. PF02375. JmjN. 1 hit. PF02928. zf-C5HC2. 1 hit. [Graphical view] |
| SMART | SM00501. BRIGHT. 1 hit. SM00558. JmjC. 1 hit. SM00545. JmjN. 1 hit. [Graphical view] |
| SUPFAM | SSF46774. ARID. 1 hit. |
| PROSITE | PS51011. ARID. 1 hit. PS51184. JMJC. 1 hit. PS51183. JMJN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 3720. |
| NextBio | 14577. |
| SOURCE | Search... |
Entry information
| Entry name | JARD2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92833 Secondary accession number(s): A8K9Z6 Q86X63 | ||||||||
| Entry history |
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| 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 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| 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
