Property Summary

NCBI Gene PubMed Count 31
Grant Count 88
R01 Count 62
Funding $10,232,941.28
PubMed Score 138.80
PubTator Score 82.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 4.100 0.000
osteosarcoma 1.105 0.003
medulloblastoma, large-cell 1.200 0.000
colon cancer -3.900 0.000
lung cancer 1.100 0.015

Synonym

Accession O96004
Symbols Hxt
eHand
Thing1
bHLHa27

Gene

Gene RIF (17)

PMID Text
25050861 Combined expression of NKX2-5, HAND1, and NOTCH1 coordinately contribute to cardiac malformations in Hhypoplastic left heart syndrome.
24906886 These data show that miR-363 negatively regulates the expression of HAND1
24623737 Nuclear translocation of Hand-1 acts as a molecular switch to regulate vascular radiosensitivity in medulloblastoma tumors.
24182332 DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot
23292007 Increased methylation levels of HAND1 is associated with highly active Helicobacter pylori-related gastritis.
22323723 Hand1 is dispensable for normal tyrosine hydroxylase and dopamine beta-hydroxylase expression in sympathetic neurons, even when Hand2 gene dosage is concurrently reduced by half.
22043484 Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
22032825 This is the first report of mutations in the HAND1 gene in Chinese patients with VSD and provides new insight into the etiology of VSD
21561848 Mutations or sequence variations in HAND1 or NKX2-5 genes may play role in etiology or pathogenesis of atrial isomerism.
21519287 Our study shows no evidence of somatic NKX2-5, GATA4 and HAND1 mutations playing a role in the pathogenesis of Tetralogy of Fallot . Findings suggest that the GATA4 and HAND1 germline mutations are associated with non-syndromic congenital heart disease.
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AA Sequence

MNLVGSYAHHHHHHHPHPAHPMLHEPFLFGPASRCHQERPYFQSWLLSPADAAPDFPAGGPPPAAAAAAT      1 - 70
AYGPDARPGQSPGRLEALGGRLGRRKGSGPKKERRRTESINSAFAELRECIPNVPADTKLSKIKTLRLAT     71 - 140
SYIAYLMDVLAKDAQSGDPEAFKAELKKADGGRESKRKRELQQHEGFPPALGPVEKRIKGRTGWPQQVWA    141 - 210
LELNQ                                                                     211 - 215
//

Text Mined References (31)

PMID Year Title
25050861 2014 Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome.
25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
24906886 2014 MicroRNA-363 negatively regulates the left ventricular determining transcription factor HAND1 in human embryonic stem cell-derived cardiomyocytes.
24623737 2014 Nuclear translocation of Hand-1 acts as a molecular switch to regulate vascular radiosensitivity in medulloblastoma tumors: the protein uPAR is a cytoplasmic sequestration factor for Hand-1.
24182332 2013 DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot.
23292007 2013 Altered mucosal DNA methylation in parallel with highly active Helicobacter pylori-related gastritis.
22323723 2012 A Phox2- and Hand2-dependent Hand1 cis-regulatory element reveals a unique gene dosage requirement for Hand2 during sympathetic neurogenesis.
22043484 2011 Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
22032825 2012 Two novel HAND1 mutations in Chinese patients with ventricular septal defect.
21561848 2011 Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism.
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