Property Summary

NCBI Gene PubMed Count 33
PubMed Score 877.99
PubTator Score 80.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 8.7e-13

Protein-protein Interaction (3)

Gene RIF (20)

PMID Text
26676105 this study is the first to report the association of a HAND2 loss-of-function mutation with an increased vulnerability to tetralogy of Fallot in humans, which provides novel insight into the molecular mechanism underpinning congenital heart disease
26166202 HAND2-mediated proteolysis negatively regulates the function of estrogen receptor alpha.
24745730 suggest that HAND2 plays a key role in the regulation of progestin-induced decidualization of human endometrial stromal cells.
24265601 Increased HAND2 methylation was a feature of premalignant endometrial lesions and was seen to parallel a decrease in RNA and protein levels.
24210200 Reduced protein expression of HAND2 in the myenteric plexus of the aganglionic segment would suggest that HAND2 was involved in the pathogenesis of Hirschsprung disease.
23449628 Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.
22323723 Expression analyses on both Hand2 conditionally null and hypomorphic backgrounds demonstrate that Hand2 is required for reporter activation in a gene dosage-dependent manner during sympathetic neurogenesis.
21527398 Data suggest Hand2 plays an important role in decidualization; expression of Hand2 is significantly increased in response to prostaglandin E2.
21431856 No evidence of linkage between HAND2 and CL/P was obtained. Levelss of exclusion were obtained with different inheritance models. results did not support HAND2 in CL/P
21350214 Hand2 performs an essential role during transgenic epicardialization, directly impacting epicardial cell differentiation and formation of the coronary vasculature.
21241805 These data suggest that cytokines can inhibit norepinephrine transporter expression through downregulation of Hand2 or Gata3 in cultured sympathetic neurons, but axotomy in adult animals selectively suppresses Hand2 expression.
20819618 HAND2 may be a potential candidate gene of stenosis of the right ventricle, outflow tract.
20819618 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
19348682 Expression of HAND2 and DEIN genes in neuroblastoma is co-regulated by asymmetrical activity of this promoter and modulated by the activity of two cis-regulatory elements acting as weak repressors
19008477 Hand2 plays a pivotal role in regulating both cell-autonomous and -nonautonomous functions of the cardiac neural crest.
16467358 demonstrate evolutionarily conserved functions of HAND transcription factors in Drosophila and mammalian cardiogenesis, and reveal a previously unrecognized requirement of Hand genes in hematopoiesis
16280598 These results demonstrate the direct interactions of the Phox2a and b and dHAND transcription factors within a noradrenergic cell type
15351717 dHAND/E-protein (E2A, ME2, and ALF1) heterodimers have distinct DNA binding specificities
12858532 effects of gene mutations on ventricular development

AA Sequence

MSLVGGFPHHPVVHHEGYPFAAAAAAAAAAAASRCSHEENPYFHGWLIGHPEMSPPDYSMALSYSPEYAS      1 - 70
GAAGLDHSHYGGVPPGAGPPGLGGPRPVKRRGTANRKERRRTQSINSAFAELRECIPNVPADTKLSKIKT     71 - 140
LRLATSYIAYLMDLLAKDDQNGEAEAFKAEIKKTDVKEEKRKKELNEILKSTVSSNDKKTKGRTGWPQHV    141 - 210
WALELKQ                                                                   211 - 217
//

Text Mined References (34)

PMID Year Title
26676105 2016 A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot.
26166202 2015 HAND2-mediated proteolysis negatively regulates the function of estrogen receptor ?.
25416956 2014 A proteome-scale map of the human interactome network.
24745730 2014 Requirement of heart and neural crest derivatives-expressed transcript 2 during decidualization of human endometrial stromal cells in vitro.
24265601 2013 Role of DNA methylation and epigenetic silencing of HAND2 in endometrial cancer development.
24210200 2013 The research on screening differentially expressed genes in Hirschsprung's disease by using Microarray.
24161931 2013 Nfat and miR-25 cooperate to reactivate the transcription factor Hand2 in heart failure.
23449628 2013 Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.
22323723 2012 A Phox2- and Hand2-dependent Hand1 cis-regulatory element reveals a unique gene dosage requirement for Hand2 during sympathetic neurogenesis.
21527398 2011 Evidence for a conserved function of heart and neural crest derivatives expressed transcript 2 in mouse and human decidualization.
21431856 2012 No evidence of HAND2 involvement in nonsyndromic cleft lip with or without cleft palate.
21350214 2011 Hand2 loss-of-function in Hand1-expressing cells reveals distinct roles in epicardial and coronary vessel development.
21241805 2011 Cytokines inhibit norepinephrine transporter expression by decreasing Hand2.
20819618 2010 Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
19348682 2009 Co-regulated expression of HAND2 and DEIN by a bidirectional promoter with asymmetrical activity in neuroblastoma.
19008477 2008 Cardiac neural crest expression of Hand2 regulates outflow and second heart field development.
16467358 2006 Hand, an evolutionarily conserved bHLH transcription factor required for Drosophila cardiogenesis and hematopoiesis.
16280598 2005 Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15486975 2004 Cooperative activation of atrial naturetic peptide promoter by dHAND and MEF2C.
15351717 2004 Differential cooperation between dHAND and three different E-proteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14636580 2003 PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation.
14506227 2003 The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA.
12858532 2002 Molecular mechanisms of ventricular hypoplasia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11994297 2002 The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism.
11812799 2002 The basic helix-loop-helix factor, HAND2, functions as a transcriptional activator by binding to E-boxes as a heterodimer.
11076755 2000 A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart.
10924525 2000 The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function.
10189962 HAND proteins: molecular mediators of cardiac development and congenital heart disease.
9878849 1998 Molecular cloning of the human HAND2 gene.
9500550 1998 Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1.