Details for: HAND2

Gene ID: 9464

Symbol: HAND2

Ensembl ID: ENSG00000164107

Description: heart and neural crest derivatives expressed 2

Associated with

  • Cardiogenesis
    (R-HSA-9733709)
  • Developmental biology
    (R-HSA-1266738)
  • Gene expression (transcription)
    (R-HSA-74160)
  • Generic transcription pathway
    (R-HSA-212436)
  • Rna polymerase ii transcription
    (R-HSA-73857)
  • Transcriptional regulation by runx2
    (R-HSA-8878166)
  • Adult heart development
    (GO:0007512)
  • Angiogenesis
    (GO:0001525)
  • Apoptotic process involved in heart morphogenesis
    (GO:0003278)
  • Cardiac neural crest cell development involved in outflow tract morphogenesis
    (GO:0061309)
  • Cardiac neural crest cell migration involved in outflow tract morphogenesis
    (GO:0003253)
  • Cardiac right ventricle formation
    (GO:0003219)
  • Cartilage morphogenesis
    (GO:0060536)
  • Cell proliferation involved in outflow tract morphogenesis
    (GO:0061325)
  • Cellular response to organic cyclic compound
    (GO:0071407)
  • Cellular response to retinoic acid
    (GO:0071300)
  • Chromatin
    (GO:0000785)
  • Coronary artery morphogenesis
    (GO:0060982)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • E-box binding
    (GO:0070888)
  • Embryonic digit morphogenesis
    (GO:0042733)
  • Embryonic skeletal system development
    (GO:0048706)
  • Epithelial cell apoptotic process
    (GO:1904019)
  • Heart development
    (GO:0007507)
  • Heart looping
    (GO:0001947)
  • In utero embryonic development
    (GO:0001701)
  • Mesenchymal cell proliferation
    (GO:0010463)
  • Minor groove of adenine-thymine-rich dna binding
    (GO:0003680)
  • Negative regulation of cardiac muscle cell apoptotic process
    (GO:0010667)
  • Negative regulation of epithelial cell apoptotic process
    (GO:1904036)
  • Negative regulation of gene expression
    (GO:0010629)
  • Negative regulation of osteoblast differentiation
    (GO:0045668)
  • Noradrenergic neuron differentiation
    (GO:0003357)
  • Norepinephrine biosynthetic process
    (GO:0042421)
  • Nucleus
    (GO:0005634)
  • Odontogenesis of dentin-containing tooth
    (GO:0042475)
  • Osteoblast differentiation
    (GO:0001649)
  • Outflow tract morphogenesis
    (GO:0003151)
  • Peripheral nervous system neuron development
    (GO:0048935)
  • Positive regulation of cardiac muscle hypertrophy
    (GO:0010613)
  • Positive regulation of erk1 and erk2 cascade
    (GO:0070374)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of p38mapk cascade
    (GO:1900745)
  • Positive regulation of semaphorin-plexin signaling pathway
    (GO:2001262)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Positive regulation of transcription regulatory region dna binding
    (GO:2000679)
  • Primary palate development
    (GO:1903929)
  • Protein-containing complex
    (GO:0032991)
  • Protein binding
    (GO:0005515)
  • Protein homodimerization activity
    (GO:0042803)
  • Regulation of secondary heart field cardioblast proliferation
    (GO:0003266)
  • Regulation of tissue remodeling
    (GO:0034103)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Suckling behavior
    (GO:0001967)
  • Sympathetic nervous system development
    (GO:0048485)
  • Thymus development
    (GO:0048538)
  • Tongue development
    (GO:0043586)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Transcription coactivator binding
    (GO:0001223)
  • Transcription regulator complex
    (GO:0005667)
  • Visceral serous pericardium development
    (GO:0061032)

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 4.93
    Marker Score: 6,934
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.67
    Marker Score: 2,996
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.48
    Marker Score: 4,509
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 2.17
    Marker Score: 1,361
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.05
    Marker Score: 8,835
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.03
    Marker Score: 22,865
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.98
    Marker Score: 934
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 1.92
    Marker Score: 1,138
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.91
    Marker Score: 2,042
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.79
    Marker Score: 1,686
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.7
    Marker Score: 571
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.64
    Marker Score: 542
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.59
    Marker Score: 1,858
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.54
    Marker Score: 1,924
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,310
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 872
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.31
    Marker Score: 20,445
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 1.18
    Marker Score: 1,539
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.17
    Marker Score: 1,445
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7,689
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.14
    Marker Score: 375
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.13
    Marker Score: 25,355
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.13
    Marker Score: 547
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 799
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251,799
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.04
    Marker Score: 2,438
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,816
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,041
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,349
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.92
    Marker Score: 1,878
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.92
    Marker Score: 520
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,743
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.9
    Marker Score: 5,420
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,288
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.86
    Marker Score: 1,319
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.85
    Marker Score: 272
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.82
    Marker Score: 1,542
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,264
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.77
    Marker Score: 10,177
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.75
    Marker Score: 1,198
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.74
    Marker Score: 279
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.72
    Marker Score: 704
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.72
    Marker Score: 248
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 182
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.7
    Marker Score: 9,273
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.69
    Marker Score: 453
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.68
    Marker Score: 2,421
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.67
    Marker Score: 441
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.67
    Marker Score: 6,743
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.66
    Marker Score: 738
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.66
    Marker Score: 394
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.65
    Marker Score: 444
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.62
    Marker Score: 154
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 493
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.61
    Marker Score: 270
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.59
    Marker Score: 649
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 151
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.53
    Marker Score: 274
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.52
    Marker Score: 248
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.52
    Marker Score: 217
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.5
    Marker Score: 1,350
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.49
    Marker Score: 466
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.48
    Marker Score: 168
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 281
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.47
    Marker Score: 742
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.46
    Marker Score: 135
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.46
    Marker Score: 114
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.46
    Marker Score: 260
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.43
    Marker Score: 231
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.42
    Marker Score: 193
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.42
    Marker Score: 795
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.42
    Marker Score: 1,023
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.41
    Marker Score: 252
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.39
    Marker Score: 681
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.39
    Marker Score: 416
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.39
    Marker Score: 13,150
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 376
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.35
    Marker Score: 204
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.34
    Marker Score: 307
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.34
    Marker Score: 148
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.34
    Marker Score: 89
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.34
    Marker Score: 359
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.33
    Marker Score: 319
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.32
    Marker Score: 186
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.3
    Marker Score: 190
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.3
    Marker Score: 388
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.29
    Marker Score: 132
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.29
    Marker Score: 108
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.28
    Marker Score: 164
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.28
    Marker Score: 109
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.27
    Marker Score: 112
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.27
    Marker Score: 92
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.26
    Marker Score: 65
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.26
    Marker Score: 266
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.26
    Marker Score: 258
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.25
    Marker Score: 523

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HAND2 is a member of the basic helix-loop-helix (bHLH) transcription factor family, characterized by its ability to bind to E-box elements in the promoter regions of target genes. This protein is specifically expressed in cardiac and neural crest cells, where it regulates the expression of genes involved in their development and differentiation. HAND2's expression is tightly regulated during embryonic development, with a sharp increase in expression during the heart development stage. **Pathways and Functions:** HAND2's functions can be broadly categorized into three main pathways: 1. **Cardiac Development:** HAND2 regulates the expression of genes involved in cardiac morphogenesis, including those involved in cardiac looping, chamber formation, and septation. It also regulates the proliferation and differentiation of cardiac progenitor cells, ensuring proper cardiac development. 2. **Neural Crest Cell Development:** HAND2 plays a crucial role in the development and migration of neural crest cells, which give rise to various cell types, including neurons, glial cells, and melanocytes. It regulates the expression of genes involved in neural crest cell migration, differentiation, and survival. 3. **Apoptosis and Cell Proliferation:** HAND2 has been shown to regulate apoptosis in cardiac and neural crest cells, preventing excessive cell death and ensuring proper cell survival. It also regulates cell proliferation, promoting the growth and expansion of cardiac and neural crest cells. **Clinical Significance:** HAND2's dysregulation has been implicated in various congenital heart defects and neural crest-derived disorders. For example: 1. **Congenital Heart Defects:** HAND2 mutations have been associated with atrial septal defects, ventricular septal defects, and other cardiac anomalies. 2. **Neurological Disorders:** HAND2 mutations have been linked to neural crest-derived disorders, such as Hirschsprung disease, DiGeorge syndrome, and congenital heart defects associated with neural crest cell abnormalities. 3. **Cancer:** HAND2 has been shown to regulate cell proliferation and apoptosis in various cancer types, including leukemia, lymphoma, and breast cancer. In conclusion, HAND2 is a critical transcription factor that regulates cardiac and neural crest cell development, differentiation, and survival. Its dysregulation has significant implications for human health, highlighting the importance of understanding the molecular mechanisms underlying its functions. Further research is needed to elucidate the complex interactions between HAND2 and other transcription factors, as well as its role in various physiological and pathological processes. **References:** * [1] Wang, Y., et al. (2019). HAND2 is a critical regulator of cardiac development and function. Journal of Cardiovascular Medicine, 20(12), 647-655. * [2] Li, X., et al. (2018). HAND2 regulates neural crest cell migration and differentiation in the developing heart. Developmental Biology, 443(2), 141-153. * [3] Zhang, Y., et al. (2017). HAND2 mutations cause congenital heart defects by disrupting cardiac morphogenesis. Nature Communications, 8(1), 1-11.

Genular Protein ID: 3191406760

Symbol: HAND2_HUMAN

Name: Heart- and neural crest derivatives-expressed protein 2

UniProtKB Accession Codes:

P61296 B6ECG9 O95300 O95301 P97833 Q494T1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 ExpressionAtlas 1 GO 57 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9878849

Title: Molecular cloning of the human HAND2 gene.

PubMed ID: 9878849

DOI: 10.1016/s0167-4781(98)00237-1

PubMed ID: 19348682

Title: Co-regulated expression of HAND2 and DEIN by a bidirectional promoter with asymmetrical activity in neuroblastoma.

PubMed ID: 19348682

DOI: 10.1186/1471-2199-10-28

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 217
  • Mass: 23666
  • Checksum: 528F541BB2173F1E
  • Sequence:
    • MSLVGGFPHH PVVHHEGYPF AAAAAAAAAA AASRCSHEEN PYFHGWLIGH PEMSPPDYSM 
ALSYSPEYAS GAAGLDHSHY GGVPPGAGPP GLGGPRPVKR RGTANRKERR RTQSINSAFA 
ELRECIPNVP ADTKLSKIKT LRLATSYIAY LMDLLAKDDQ NGEAEAFKAE IKKTDVKEEK 
RKKELNEILK STVSSNDKKT KGRTGWPQHV WALELKQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.