HAND2 heart and neural crest derivatives expressed 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAND2provided by HGNC
Official Full Name: heart and neural crest derivatives expressed 2provided by HGNC
Primary source: HGNC:HGNC:4808
See related: Ensembl:ENSG00000164107 MIM:602407; AllianceGenome:HGNC:4808
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Hed; dHand; DHAND2; Thing2; bHLHa26
Summary: The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
Expression: Biased expression in endometrium (RPKM 25.0), adrenal (RPKM 21.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q34.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (173526091..173530229, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (176865882..176870021, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (174447242..174451380, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HAND2 suppresses favipiravir efficacy in treatment of Borna disease virus infection.
Title: HAND2 suppresses favipiravir efficacy in treatment of Borna disease virus infection.
Molecular Genetic Study on HAND2 Gene Promoter in Ventricular Septal Defect.
Title: Molecular Genetic Study on HAND2 Gene Promoter in Ventricular Septal Defect.
[Association of ventricular septal defect with rare variations of the HAND2 gene].
Title: [Association of ventricular septal defect with rare variations of the HAND2 gene].
HAND2 Assists MYCN Enhancer Invasion to Regulate a Noradrenergic Neuroblastoma Phenotype.
Title: HAND2 Assists MYCN Enhancer Invasion to Regulate a Noradrenergic Neuroblastoma Phenotype.
NONO enhances mRNA processing of super-enhancer-associated GATA2 and HAND2 genes in neuroblastoma.
Title: NONO enhances mRNA processing of super-enhancer-associated GATA2 and HAND2 genes in neuroblastoma.
Genetic evaluation of HAND2 gene and its effects on thalidomide embryopathy.
Title: Genetic evaluation of HAND2 gene and its effects on thalidomide embryopathy.
Hand2 delineates mesothelium progenitors and is reactivated in mesothelioma.
Title: Hand2 delineates mesothelium progenitors and is reactivated in mesothelioma.
HAND2 is a novel obesity-linked adipogenic transcription factor regulated by glucocorticoid signalling.
Title: HAND2 is a novel obesity-linked adipogenic transcription factor regulated by glucocorticoid signalling.
Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation.
Title: Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation.
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects.
Title: Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hand2 (e-PCR), detects polymorphism
- UniSTS:238134

SHGC-67913 (e-PCR)
- UniSTS:19068

WI-12683 (e-PCR)
- UniSTS:2450

NoName (e-PCR)
- UniSTS:482963

Hand2 (e-PCR), detects polymorphism
- UniSTS:547235

STS-N68754 (e-PCR)
- UniSTS:67039

UniSTS:478956 (e-PCR)
- UniSTS:478956

Hand2 (e-PCR), detects polymorphism
- UniSTS:478956

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables minor groove of adenine-thymine-rich DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription coactivator binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in adult heart development	IEP Inferred from Expression Pattern more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process involved in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cardiac neural crest cell development involved in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cardiac right ventricle formation	IEA Inferred from Electronic Annotation more info
involved_in cartilage morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell proliferation involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in coronary artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	NAS Non-traceable Author Statement more info	PubMed
involved_in heart looping	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in noradrenergic neuron differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in norepinephrine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cardiac muscle hypertrophy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cardiac muscle hypertrophy	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of semaphorin-plexin signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in primary palate development	IEA Inferred from Electronic Annotation more info
involved_in regulation of secondary heart field cardioblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of tissue remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in suckling behavior	IEA Inferred from Electronic Annotation more info
involved_in sympathetic nervous system development	IEA Inferred from Electronic Annotation more info
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in tongue development	IEA Inferred from Electronic Annotation more info
involved_in visceral serous pericardium development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: heart- and neural crest derivatives-expressed protein 2

Names: basic helix-loop-helix transcription factor HAND2; class A basic helix-loop-helix protein 26; deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046954.1 RefSeqGene

Range

4999..9137

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021973.3 → NP_068808.1 heart- and neural crest derivatives-expressed protein 2

See identical proteins and their annotated locations for NP_068808.1

Status: REVIEWED

Source sequence(s)

AC093849

Consensus CDS

CCDS3819.1

UniProtKB/Swiss-Prot

B6ECG9, O95300, O95301, P61296, P97833, Q494T1

Related

ENSP00000352565.4, ENST00000359562.4

Conserved Domains (1) summary

cd11471
Location:100 → 161

bHLH_TS_HAND2; basic helix-loop-helix (bHLH) domain found in heart- and neural crest derivatives-expressed protein 2 (HAND2) and similar proteins