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| TissGeneSummary for HAND2 |
 Gene summary |
| Basic gene information | Gene symbol | HAND2 |
| Gene name | heart and neural crest derivatives expressed 2 | |
| Synonyms | DHAND2|Hed|Thing2|bHLHa26|dHand | |
| Cytomap | UCSC genome browser: 4q33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021973.2, | |
| Description | basic helix-loop-helix transcription factor HAND2class A basic helix-loop-helix protein 26deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2heart- and neural crest derivatives-expressed protein 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602407 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164107 | ||
| HPRD : 03872 | ||
| Vega : OTTHUMG00000160775 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HAND2 | |
| BioGPS: 9464 | ||
| Pathway | NCI Pathway Interaction Database: HAND2 | |
| KEGG: HAND2 | ||
| REACTOME: HAND2 | ||
| Pathway Commons: HAND2 | ||
| Context | iHOP: HAND2 | |
| ligand binding site mutation search in PubMed: HAND2 | ||
| UCL Cancer Institute: HAND2 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | ColonOvary | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | COADOV | |
| Reference showing the relevant tissue of HAND2 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 15486975 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 16280598 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 15486975 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 16280598 |
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| TissGeneExp for HAND2 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LIHC | -0.335089894 | 3.186778106 | -3.521868 | 4.36E-13 | 9.78E-12 |
| BRCA | 0.388415229 | 1.825596808 | -1.437181579 | 5.82E-24 | 5.40E-23 |
| BLCA | 1.026426632 | 4.382526632 | -3.3561 | 1.72E-06 | 4.90E-05 |
| PRAD | -1.932306971 | -0.502939663 | -1.429367308 | 4.43E-06 | 2.73E-05 |
| THCA | -1.267426267 | 0.644221191 | -1.911647458 | 3.99E-10 | 2.43E-09 |
| COAD | 0.486193029 | 4.086223798 | -3.600030769 | 2.26E-07 | 1.49E-06 |
| ESCA | -1.548802076 | 1.491025197 | -3.039827273 | 0.00476 | 0.03832 |
| STAD | 1.117666106 | 4.063753606 | -2.9460875 | 0.000699 | 0.003989977 |
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| TissGene-miRNA for HAND2 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for HAND2 |
| TissGeneSNV for HAND2 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.R142H | STAD | 2 |
| p.R142C | PAAD | 1 |
| p.R203Q | READ | 1 |
| p.K180N | BRCA | 1 |
| p.E124Q | BLCA | 1 |
| p.M152I | LUAD | 1 |
| p.A120T | KIRP | 1 |
| p.P90S | SKCM | 1 |
| p.L189F | BLCA | 1 |
| p.E170K | HNSC | 1 |
| p.G205C | LUAD | 1 |
| p.E179* | HNSC | 1 |
| p.R106C | LUAD | 1 |
| p.P85Q | LIHC | 1 |
| p.A149S | LUAD | 1 |
| p.H14R | LIHC | 1 |
| p.Y42N | KIRP | 1 |
| p.A104D | BRCA | 1 |
| p.S136F | READ | 1 |
| p.R110C | STAD | 1 |
| p.L143M | LUAD | 1 |
| p.S36N | READ | 1 |
| p.R142H | LUAD | 1 |
| p.P55L | SKCM | 1 |
| p.S63F | SKCM | 1 |
| p.E187K | SKCM | 1 |
| p.E121D | SKCM | 1 |
| p.E147G | UCEC | 1 |
| p.E163Q | LUAD | 1 |
| p.R167M | LUSC | 1 |
| p.G45C | LUSC | 1 |
| p.E187K | LUAD | 1 |
| p.R123C | COAD | 1 |
| p.A87D | LUAD | 1 |
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| TissGeneCNV for HAND2 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for HAND2 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
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| TissGeneNet for HAND2 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| COAD (tumor) | COAD (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| KICH (tumor) | KICH (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| STAD (tumor) | STAD (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| THCA (tumor) | THCA (normal) |
| HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (tumor) | HAND2, PRKCA, TCF3, COPS5, PRKACA, EP300, PHOX2A, HEYL, NPM1, GATA4, CENPB, HAND1, HEY2, PPP2R5D, HOXD13 (normal) |
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| TissGeneProg for HAND2 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for HAND2 |
| TissGeneDrug for HAND2 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for HAND2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0000768 | Congenital Abnormality | 4 | BeFree |
| umls:C0018798 | Congenital Heart Defects | 4 | BeFree,CTD_human,GAD |
| umls:C0152021 | Congenital heart disease | 4 | BeFree |
| umls:C0162359 | Christ-Siemens-Touraine syndrome | 4 | BeFree |
| umls:C0020608 | Hypodontia | 2 | BeFree |
| umls:C0239337 | Deformity of limb | 2 | BeFree |
| umls:C0007103 | Malignant neoplasm of endometrium | 1 | BeFree |
| umls:C0008626 | Congenital chromosomal disease | 1 | BeFree |
| umls:C0018800 | Cardiomegaly | 1 | RGD |
| umls:C0018801 | Heart failure | 1 | BeFree |
| umls:C0018802 | Congestive heart failure | 1 | BeFree |
| umls:C0021171 | Bloch Sulzberger syndrome | 1 | BeFree |
| umls:C0032927 | Precancerous Conditions | 1 | BeFree |
| umls:C0037277 | Skin Diseases, Genetic | 1 | BeFree |
| umls:C0039685 | Tetralogy of Fallot | 1 | CTD_human |
| umls:C0041107 | Trisomy | 1 | BeFree |
| umls:C0152427 | Polydactyly | 1 | BeFree |
| umls:C0162770 | Right Ventricular Hypertrophy | 1 | RGD |
| umls:C0175699 | Saethre-Chotzen Syndrome | 1 | BeFree |
| umls:C0206762 | Limb Deformities, Congenital | 1 | BeFree |
| umls:C0266617 | Congenital anomaly of face | 1 | BeFree |
| umls:C0280255 | stage, endometrial cancer | 1 | BeFree |
| umls:C0476089 | Endometrial Carcinoma | 1 | BeFree |
| umls:C0878544 | Cardiomyopathies | 1 | BeFree |
| umls:C1297882 | Partial Trisomy | 1 | BeFree |
| umls:C1704423 | Milroy Disease | 1 | BeFree |
| umls:C1883486 | Uterine Corpus Cancer | 1 | BeFree |
| umls:C2930820 | Incontinentia pigmenti, familial male-lethal type | 1 | BeFree |
| umls:C2936346 | 22q11 Deletion Syndrome | 1 | BeFree |
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