Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HIPK2 (homeodomain interacting protein kinase 2)

Written2010-03Dirk Sombroek, Thomas G Hofmann
Deutsches Krebsforschungszentrum (dkfz.), Cellular Senescence Unit A210, Cell, Tumor Biology Program, Heidelberg, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_nameshomeodomain-interacting protein kinase 2
Other aliasDKFZp686K02111
FLJ23711
hHIPk2
PRO0593
HGNC (Hugo) HIPK2
LocusID (NCBI) 28996
Atlas_Id 40824
Location 7q34  [Link to chromosome band 7q34]
Location_base_pair Starts at 139561570 and ends at 139777894 bp from pter ( according to hg19-Feb_2009)  [Mapping HIPK2.png]
Fusion genes
(updated 2016)
ACTB (7p22.1) / HIPK2 (7q34)HIPK2 (7q34) / ADCK2 (7q34)HIPK2 (7q34) / DENND2A (7q34)
HIPK2 (7q34) / GRM8 (7q31.33)HIPK2 (7q34) / HIPK2 (7q34)HIPK2 (7q34) / KCNJ12 (17p11.2)
HIPK2 (7q34) / MYCBP2 (13q22.3)SQSTM1 (5q35.3) / HIPK2 (7q34)YBX3 (12p13.2) / HIPK2 (7q34)

DNA/RNA

Description Zhang et al. (2005) reported 13 exons that span around 60 kb; however, up to 15 exons are listed in different databases.
Transcription Around 15 kb mRNA (full-length); 3594 bp open reading frame.
At least two alternative transcripts.
Entrez Nucleotide:
[NM_022740.4] Homo sapiens HIPK2, transcript variant 1; 15245 bp linear mRNA; full-length isoform,
[NM_001113239.2] Homo sapiens HIPK2, transcript variant 2; 15164 bp linear mRNA; this variant lacks an internal segment in the CDS, the resulting isoform is shorter.
UniProtHB/Swiss-Prot [Q9H2X6]:
[Q9H2X6-1] full-length isoform (1),
[Q9H2X6-2] isoform (2),
[Q9H2X6-3] isoform (3).
Ensemble Gene [ENSG00000064393]; 4 transcripts:
HIPK2-001 [ENST00000406875]; 15049 bp linear mRNA; 1198 amino acids,
HIPK2-002 [ENST00000428878]; 3969 bp linear mRNA; 1171 amino acids,
HIPK2-201 [ENST00000263551]; 14953 bp linear mRNA; 1198 amino acids,
HIPK2-202 [ENST00000342645]; 2757 bp linear mRNA; 918 amino acids.
Pseudogene Nothing known.

Protein

Description HIPK2 is a protein kinase of 1198 amino acids (131 kDa); posttranslational modifications: phosphorylation, ubiquitination, sumoylation at K25, caspase cleavage at D916 and D977.
Contains several motifs and domains (from N- to C-terminus): a nuclear localisation signal (NLS)1 (97-157), a kinase domain (192-520), an interaction domain for homeodomain transcription factors (583-798), a NLS2 (780-840) and a NLS3 within a speckle-retention signal (SRS) (860-967), a PEST sequence (839-934) and an autoinhibitory domain (935-1050).
Expression HIPK2 is ubiquitously expressed (high mRNA levels in neuronal tissues, heart, muscle and kidney); but barely detectable at protein levels in unstressed cells. Protein levels increase upon genotoxic stress.
Localisation Mainly nuclear localisation, in nuclear bodies; but also found in nucleoplasm and cytoplasm.
Function HIPK2 is a potential tumour suppressor; in vivo data suggest at least a role as an haploinsufficient tumour suppressor in the skin of mice.
HIPK2 is a protein kinase that interacts with numerous transcription factors (such as p53, AML1(RUNX1), PAX6, c-MYB or NK3) as well as transcriptional regulators (such as CBP, p300, Groucho, CtBP, HMGA1 or Smads). In this way HIPK2 can activate or repress transcription and thereby influence differentiation, development and the DNA damage response.
HIPK2 is an unstable protein in unstressed cells. It is constantly degraded via the ubiquitin-proteasome system (mediated by the E3 ubiquitin ligases SIAH1/SIAH2, WSB1 and MDM2). Various types of DNA damage (e.g. UV, IR or chemotherapeutics) lead to stabilisation of the kinase and an HIPK2-mediated induction of apoptosis or presumably also senescence.
HIPK2 can promote the apoptotic program via p53-dependent and -independent pathways through phosphorylation of p53 at Ser46 or phosphorylation of the anti-apoptotic co-repressor CtBP at Ser422 (both actions leading to the transcription of pro-apoptotic target genes).
HIPK2 plays a role in the transcriptional regulation at low oxigen concentrations (hypoxia).
Interestingly, HIPK2 also seems to have pro-survival functions, at least in dopamine neurons.
Homology HIPK2 is conserved from flies to man.

Mutations

Somatic HIPK2 is rarely mutated (2 out of 130 cases) in acute myeloid leukemia (AML) and myelodyplastic syndrome (MDS) patients. Two missense mutations (R868W and N958I) within the speckle-retention signal (SRS) were reported. These mutations led to a changed nuclear localisation of HIPK2 and a decreased transactivation potential in AML1- and p53-dependent transcription. The mutants showed dominant-negative effects (Li et al., 2007).

Implicated in

Note
  
Entity Thyroid and breast cancer
Oncogenesis HIPK2 is frequently inactivated by transcriptional downregulation in thyroid carcinomas (8 out of 14 cases) and breast carcinomas (8 out of 20 cases) (Pierantoni et al., 2002).
  
  
Entity Breast cancer
Oncogenesis HIPK2 is inactivated on protein level by cytoplasmic relocalisation through HMGA1. Overexpression of HMGA1 was reported to inhibit p53-mediated apoptosis by removing HIPK2 from the nucleus and retaining it in the cytoplasm. Observations could be correlated with in vivo data, at least in breast cancer. WT p53-expressing breast carcinomas showed a low spontaneous apoptotic index in case of HIPK2-relocalisation (Pierantoni et al., 2007).
  
  
Entity Epithelial tumours (with altered beta4 integrin expression)
Oncogenesis HIPK2 was reported to repress beta4 integrin expression and thereby beta4-mediated tumour progression in a p53-dependent manner. Beta4 overexpression correlates in vivo with a cytoplasmic relocalisation of HIPK2, at least in breast cancer: HIPK2 showed a cytoplasmic pattern in 62.5% of the beta4-positive tumours (Bon et al., 2009).
  
  
Entity Juvenile pilocytic astrocytomas (JPA)
Note Benign childhood brain tumors.
Disease A frequent amplification of HIPK2 along with BRAF rearrangements in JPA (35 out of 53 cases) through 7q34 duplication was reported. This duplication was more specific for JPA that originated from the cerebellum or the optic chiasm. It was absent in other brain tumours. If (and how) HIPK2 contributes to JPA development is currently unclear (Jacob et al., 2009).
  
  
Entity Cervical cancer
Note Surprisingly, a significant overexpression of HIPK2 in cervical cancer was reported. But if (and how) HIPK2 contributes to the development of cervical carcinomas remains unclear. No correlation between HIPK2 expression and grade or prognosis of the disease could be demonstrated so far (Al-Beiti et al., 2008).
  
  
Entity AML(RUNX1)-associated leukemias
Oncogenesis HIPK2 is inactivated on protein level by relocalisation through a PEBP2-beta-SMMHC fusion protein. Targeting of HIPK2 to cytoplasmic filaments and thereby prevention of AML1(RUNX1) activation was reported. Specifically, phosphorylation of RUNX1 and its cofactor p300 seems to be inhibited by HIPK2 relocalisation (Wee et al., 2008).
  

Bibliography

Roles of HIPK1 and HIPK2 in AML1- and p300-dependent transcription, hematopoiesis and blood vessel formation.
Aikawa Y, Nguyen LA, Isono K, Takakura N, Tagata Y, Schmitz ML, Koseki H, Kitabayashi I.
EMBO J. 2006 Sep 6;25(17):3955-65. Epub 2006 Aug 17.
PMID 16917507
 
Expression of HIPK2 in cervical cancer: correlation with clinicopathology and prognosis.
Al-Beiti MA, Lu X.
Aust N Z J Obstet Gynaecol. 2008 Jun;48(3):329-36.
PMID 18532967
 
Negative regulation of beta4 integrin transcription by homeodomain-interacting protein kinase 2 and p53 impairs tumor progression.
Bon G, Di Carlo SE, Folgiero V, Avetrani P, Lazzari C, D'Orazi G, Brizzi MF, Sacchi A, Soddu S, Blandino G, Mottolese M, Falcioni R.
Cancer Res. 2009 Jul 15;69(14):5978-86. Epub 2009 Jun 30.
PMID 19567674
 
An inducible autoregulatory loop between HIPK2 and Siah2 at the apex of the hypoxic response.
Calzado MA, de la Vega L, Moller A, Bowtell DD, Schmitz ML.
Nat Cell Biol. 2009 Jan;11(1):85-91. Epub 2008 Nov 30.
PMID 19043406
 
Phosphorylation by the DHIPK2 protein kinase modulates the corepressor activity of Groucho.
Choi CY, Kim YH, Kim YO, Park SJ, Kim EA, Riemenschneider W, Gajewski K, Schulz RA, Kim Y.
J Biol Chem. 2005 Jun 3;280(22):21427-36. Epub 2005 Mar 30.
PMID 15802274
 
Ubiquitination and degradation of homeodomain-interacting protein kinase 2 by WD40 repeat/SOCS box protein WSB-1.
Choi DW, Seo YM, Kim EA, Sung KS, Ahn JW, Park SJ, Lee SR, Choi CY.
J Biol Chem. 2008 Feb 22;283(8):4682-9. Epub 2007 Dec 19.
PMID 18093972
 
Homeodomain-interacting protein kinase-2 phosphorylates p53 at Ser 46 and mediates apoptosis.
D'Orazi G, Cecchinelli B, Bruno T, Manni I, Higashimoto Y, Saito S, Gostissa M, Coen S, Marchetti A, Del Sal G, Piaggio G, Fanciulli M, Appella E, Soddu S.
Nat Cell Biol. 2002 Jan;4(1):11-9.
PMID 11780126
 
Homeodomain-interacting protein kinase 2 is the ionizing radiation-activated p53 serine 46 kinase and is regulated by ATM.
Dauth I, Kruger J, Hofmann TG.
Cancer Res. 2007 Mar 1;67(5):2274-9.
PMID 17332358
 
Homeodomain-interacting protein kinase-2 activity and p53 phosphorylation are critical events for cisplatin-mediated apoptosis.
Di Stefano V, Rinaldo C, Sacchi A, Soddu S, D'Orazi G.
Exp Cell Res. 2004 Feb 15;293(2):311-20.
PMID 14729469
 
Homeodomain-interacting protein kinase-2 regulates apoptosis in developing sensory and sympathetic neurons.
Doxakis E, Huang EJ, Davies AM.
Curr Biol. 2004 Oct 5;14(19):1761-5.
PMID 15458648
 
Covalent modification of human homeodomain interacting protein kinase 2 by SUMO-1 at lysine 25 affects its stability.
Gresko E, Moller A, Roscic A, Schmitz ML.
Biochem Biophys Res Commun. 2005 Apr 22;329(4):1293-9.
PMID 15766567
 
Autoregulatory control of the p53 response by caspase-mediated processing of HIPK2.
Gresko E, Roscic A, Ritterhoff S, Vichalkovski A, del Sal G, Schmitz ML.
EMBO J. 2006 May 3;25(9):1883-94. Epub 2006 Apr 6.
PMID 16601678
 
Requirement of the co-repressor homeodomain-interacting protein kinase 2 for ski-mediated inhibition of bone morphogenetic protein-induced transcriptional activation.
Harada J, Kokura K, Kanei-Ishii C, Nomura T, Khan MM, Kim Y, Ishii S.
J Biol Chem. 2003 Oct 3;278(40):38998-9005. Epub 2003 Jul 21.
PMID 12874272
 
Regulation of p53 activity by its interaction with homeodomain-interacting protein kinase-2.
Hofmann TG, Moller A, Sirma H, Zentgraf H, Taya Y, Droge W, Will H, Schmitz ML.
Nat Cell Biol. 2002 Jan;4(1):1-10.
PMID 11740489
 
Overlapping roles for homeodomain-interacting protein kinases hipk1 and hipk2 in the mediation of cell growth in response to morphogenetic and genotoxic signals.
Isono K, Nemoto K, Li Y, Takada Y, Suzuki R, Katsuki M, Nakagawara A, Koseki H.
Mol Cell Biol. 2006 Apr;26(7):2758-71.
PMID 16537918
 
Duplication of 7q34 is specific to juvenile pilocytic astrocytomas and a hallmark of cerebellar and optic pathway tumours.
Jacob K, Albrecht S, Sollier C, Faury D, Sader E, Montpetit A, Serre D, Hauser P, Garami M, Bognar L, Hanzely Z, Montes JL, Atkinson J, Farmer JP, Bouffet E, Hawkins C, Tabori U, Jabado N.
Br J Cancer. 2009 Aug 18;101(4):722-33. Epub 2009 Jul 14.
PMID 19603027
 
Wnt-1 signal induces phosphorylation and degradation of c-Myb protein via TAK1, HIPK2, and NLK.
Kanei-Ishii C, Ninomiya-Tsuji J, Tanikawa J, Nomura T, Ishitani T, Kishida S, Kokura K, Kurahashi T, Ichikawa-Iwata E, Kim Y, Matsumoto K, Ishii S.
Genes Dev. 2004 Apr 1;18(7):816-29.
PMID 15082531
 
Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2.
Kim EA, Noh YT, Ryu MJ, Kim HT, Lee SE, Kim CH, Lee C, Kim YH, Choi CY.
J Biol Chem. 2006 Mar 17;281(11):7489-97. Epub 2006 Jan 9.
PMID 16407227
 
Covalent modification of the homeodomain-interacting protein kinase 2 (HIPK2) by the ubiquitin-like protein SUMO-1.
Kim YH, Choi CY, Kim Y.
Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12350-5.
PMID 10535925
 
Mutations of the HIPK2 gene in acute myeloid leukemia and myelodysplastic syndrome impair AML1- and p53-mediated transcription.
Li XL, Arai Y, Harada H, Shima Y, Yoshida H, Rokudai S, Aikawa Y, Kimura A, Kitabayashi I.
Oncogene. 2007 Nov 8;26(51):7231-9. Epub 2007 May 28.
PMID 17533375
 
Transcriptional regulation of hypoxia-inducible factor 1alpha by HIPK2 suggests a novel mechanism to restrain tumor growth.
Nardinocchi L, Puca R, Guidolin D, Belloni AS, Bossi G, Michiels C, Sacchi A, Onisto M, D'Orazi G.
Biochim Biophys Acta. 2009 Feb;1793(2):368-77. Epub 2008 Nov 6.
PMID 19046997
 
High-mobility group A1 inhibits p53 by cytoplasmic relocalization of its proapoptotic activator HIPK2.
Pierantoni GM, Rinaldo C, Mottolese M, Di Benedetto A, Esposito F, Soddu S, Fusco A.
J Clin Invest. 2007 Mar;117(3):693-702. Epub 2007 Feb 8.
PMID 17290307
 
MDM2-regulated degradation of HIPK2 prevents p53Ser46 phosphorylation and DNA damage-induced apoptosis.
Rinaldo C, Prodosmo A, Mancini F, Iacovelli S, Sacchi A, Moretti F, Soddu S.
Mol Cell. 2007 Mar 9;25(5):739-50.
PMID 17349959
 
Isolation and characterization of cDNAs for the protein kinase HIPK2.
Wang Y, Hofmann TG, Runkel L, Haaf T, Schaller H, Debatin K, Hug H.
Biochim Biophys Acta. 2001 Mar 19;1518(1-2):168-72.
PMID 11267674
 
PEBP2-beta/CBF-beta-dependent phosphorylation of RUNX1 and p300 by HIPK2: implications for leukemogenesis.
Wee HJ, Voon DC, Bae SC, Ito Y.
Blood. 2008 Nov 1;112(9):3777-87. Epub 2008 Aug 11.
PMID 18695000
 
HIPK2 represses beta-catenin-mediated transcription, epidermal stem cell expansion, and skin tumorigenesis.
Wei G, Ku S, Ma GK, Saito S, Tang AA, Zhang J, Mao JH, Appella E, Balmain A, Huang EJ.
Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):13040-5. Epub 2007 Jul 31.
PMID 17666529
 
Control of HIPK2 stability by ubiquitin ligase Siah-1 and checkpoint kinases ATM and ATR.
Winter M, Sombroek D, Dauth I, Moehlenbrink J, Scheuermann K, Crone J, Hofmann TG.
Nat Cell Biol. 2008 Jul;10(7):812-24. Epub 2008 Jun 8.
PMID 18536714
 
DYRK gene structure and erythroid-restricted features of DYRK3 gene expression.
Zhang D, Li K, Erickson-Miller CL, Weiss M, Wojchowski DM.
Genomics. 2005 Jan;85(1):117-30.
PMID 15607427
 
Essential function of HIPK2 in TGFbeta-dependent survival of midbrain dopamine neurons.
Zhang J, Pho V, Bonasera SJ, Holtzman J, Tang AT, Hellmuth J, Tang S, Janak PH, Tecott LH, Huang EJ.
Nat Neurosci. 2007 Jan;10(1):77-86. Epub 2006 Dec 10.
PMID 17159989
 
Homeodomain interacting protein kinase 2 promotes apoptosis by downregulating the transcriptional corepressor CtBP.
Zhang Q, Yoshimatsu Y, Hildebrand J, Frisch SM, Goodman RH.
Cell. 2003 Oct 17;115(2):177-86.
PMID 14567915
 

Citation

This paper should be referenced as such :
Sombroek, D ; Hofmann, TG
HIPK2 (homeodomain interacting protein kinase 2)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(12):1141-1144.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HIPK2ID40824ch7q34.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;9)(p13;p12) PAX5/HIPK1


External links

Nomenclature
HGNC (Hugo)HIPK2   14402
Cards
AtlasHIPK2ID40824ch7q34
Entrez_Gene (NCBI)HIPK2  28996  homeodomain interacting protein kinase 2
AliasesPRO0593
GeneCards (Weizmann)HIPK2
Ensembl hg19 (Hinxton)ENSG00000064393 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064393 [Gene_View]  chr7:139561570-139777894 [Contig_View]  HIPK2 [Vega]
ICGC DataPortalENSG00000064393
TCGA cBioPortalHIPK2
AceView (NCBI)HIPK2
Genatlas (Paris)HIPK2
WikiGenes28996
SOURCE (Princeton)HIPK2
Genetics Home Reference (NIH)HIPK2
Genomic and cartography
GoldenPath hg38 (UCSC)HIPK2  -     chr7:139561570-139777894 -  7q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIPK2  -     7q34   [Description]    (hg19-Feb_2009)
EnsemblHIPK2 - 7q34 [CytoView hg19]  HIPK2 - 7q34 [CytoView hg38]
Mapping of homologs : NCBIHIPK2 [Mapview hg19]  HIPK2 [Mapview hg38]
OMIM606868   
Gene and transcription
Genbank (Entrez)AF055019 AF111850 AF207702 AF208291 AF326592
RefSeq transcript (Entrez)NM_001113239 NM_022740
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HIPK2
Cluster EST : UnigeneHs.731417 [ NCBI ]
CGAP (NCI)Hs.731417
Alternative Splicing GalleryENSG00000064393
Gene ExpressionHIPK2 [ NCBI-GEO ]   HIPK2 [ EBI - ARRAY_EXPRESS ]   HIPK2 [ SEEK ]   HIPK2 [ MEM ]
Gene Expression Viewer (FireBrowse)HIPK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)28996
GTEX Portal (Tissue expression)HIPK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2X6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2X6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2X6
Splice isoforms : SwissVarQ9H2X6
PhosPhoSitePlusQ9H2X6
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)HIPK2
DMDM Disease mutations28996
Blocks (Seattle)HIPK2
SuperfamilyQ9H2X6
Human Protein AtlasENSG00000064393
Peptide AtlasQ9H2X6
HPRD06039
IPIIPI00289892   IPI00215949   IPI00215950   IPI00384035   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2X6
IntAct (EBI)Q9H2X6
FunCoupENSG00000064393
BioGRIDHIPK2
STRING (EMBL)HIPK2
ZODIACHIPK2
Ontologies - Pathways
QuickGOQ9H2X6
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  eye development  transcription corepressor activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  protein phosphorylation  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  transforming growth factor beta receptor signaling pathway  smoothened signaling pathway  adult walking behavior  positive regulation of cell proliferation  anterior/posterior pattern specification  retina layer formation  nuclear body  nuclear body  PML body  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  modulation by virus of host morphology or physiology  neuron differentiation  erythrocyte differentiation  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  PML body organization  positive regulation of protein binding  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of DNA binding  negative regulation of neuron apoptotic process  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JNK cascade  SMAD binding  virion binding  embryonic camera-type eye morphogenesis  voluntary musculoskeletal movement  positive regulation of sequence-specific DNA binding transcription factor activity  regulation of cell cycle  embryonic retina morphogenesis in camera-type eye  lens induction in camera-type eye  SMAD protein signal transduction  iris morphogenesis  cellular response to hypoxia  RNA polymerase II transcription factor complex  intrinsic apoptotic signaling pathway  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  eye development  transcription corepressor activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  protein phosphorylation  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  transforming growth factor beta receptor signaling pathway  smoothened signaling pathway  adult walking behavior  positive regulation of cell proliferation  anterior/posterior pattern specification  retina layer formation  nuclear body  nuclear body  PML body  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  modulation by virus of host morphology or physiology  neuron differentiation  erythrocyte differentiation  positive regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  PML body organization  positive regulation of protein binding  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of DNA binding  negative regulation of neuron apoptotic process  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JNK cascade  SMAD binding  virion binding  embryonic camera-type eye morphogenesis  voluntary musculoskeletal movement  positive regulation of sequence-specific DNA binding transcription factor activity  regulation of cell cycle  embryonic retina morphogenesis in camera-type eye  lens induction in camera-type eye  SMAD protein signal transduction  iris morphogenesis  cellular response to hypoxia  RNA polymerase II transcription factor complex  intrinsic apoptotic signaling pathway  regulation of signal transduction by p53 class mediator  
REACTOMEQ9H2X6 [protein]
REACTOME PathwaysR-HSA-6804756 [pathway]   
NDEx NetworkHIPK2
Atlas of Cancer Signalling NetworkHIPK2
Wikipedia pathwaysHIPK2
Orthology - Evolution
OrthoDB28996
GeneTree (enSembl)ENSG00000064393
Phylogenetic Trees/Animal Genes : TreeFamHIPK2
HOVERGENQ9H2X6
HOGENOMQ9H2X6
Homologs : HomoloGeneHIPK2
Homology/Alignments : Family Browser (UCSC)HIPK2
Gene fusions - Rearrangements
Fusion : MitelmanHIPK2/GRM8 [7q34/7q31.33]  
Fusion : MitelmanHIPK2/MYCBP2 [7q34/13q22.3]  [t(7;13)(q34;q22)]  
Fusion: TCGAHIPK2 7q34 ADCK2 7q34 LUAD
Fusion: TCGAHIPK2 7q34 DENND2A 7q34 OV
Fusion: TCGAHIPK2 7q34 GRM8 7q31.33 LUSC
Fusion: TCGAHIPK2 7q34 MYCBP2 13q22.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIPK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIPK2
dbVarHIPK2
ClinVarHIPK2
1000_GenomesHIPK2 
Exome Variant ServerHIPK2
ExAC (Exome Aggregation Consortium)HIPK2 (select the gene name)
Genetic variants : HAPMAP28996
Genomic Variants (DGV)HIPK2 [DGVbeta]
DECIPHERHIPK2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHIPK2 
Mutations
ICGC Data PortalHIPK2 
TCGA Data PortalHIPK2 
Broad Tumor PortalHIPK2
OASIS PortalHIPK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIPK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIPK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HIPK2
DgiDB (Drug Gene Interaction Database)HIPK2
DoCM (Curated mutations)HIPK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIPK2 (select a term)
intoGenHIPK2
NCG5 (London)HIPK2
Cancer3DHIPK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606868   
Orphanet
MedgenHIPK2
Genetic Testing Registry HIPK2
NextProtQ9H2X6 [Medical]
TSGene28996
GENETestsHIPK2
Target ValidationHIPK2
Huge Navigator HIPK2 [HugePedia]
snp3D : Map Gene to Disease28996
BioCentury BCIQHIPK2
ClinGenHIPK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD28996
Chemical/Pharm GKB GenePA29291
Clinical trialHIPK2
Miscellaneous
canSAR (ICR)HIPK2 (select the gene name)
Probes
Litterature
PubMed152 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIPK2
EVEXHIPK2
GoPubMedHIPK2
iHOPHIPK2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:27:54 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.