Hand2 heart and neural crest derivatives expressed 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hand2provided by MGI
Official Full Name: heart and neural crest derivatives expressed 2provided by MGI
Primary source: MGI:MGI:103580
See related: Ensembl:ENSMUSG00000038193 AllianceGenome:MGI:103580
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hed; Th2; dHAND; Ehand2; Thing2; bHLHa26
Summary: Enables protein homodimerization activity and sequence-specific DNA binding activity. Contributes to E-box binding activity. Involved in several processes, including heart morphogenesis; negative regulation of cardiac muscle cell apoptotic process; and positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis. Acts upstream of or within several processes, including animal organ development; negative regulation of osteoblast differentiation; and nervous system development. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; heart; and hindlimb phalanx. Orthologous to human HAND2 (heart and neural crest derivatives expressed 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 31.8), stomach adult (RPKM 17.4) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B2; 8 29.8 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (57774018..57777552)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (57320983..57324517)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and characterization of Hand2 upstream genomic enhancers active in developing stomach and limbs.
Title: Identification and characterization of Hand2 upstream genomic enhancers active in developing stomach and limbs.
A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2.
Title: A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2.
Single cell evaluation of endocardial Hand2 gene regulatory networks reveals HAND2-dependent pathways that impact cardiac morphogenesis.
Title: Single cell evaluation of endocardial Hand2 gene regulatory networks reveals HAND2-dependent pathways that impact cardiac morphogenesis.
Egr3 as an important regulator of uterine decidualization through targeting Hand2.
Title: Egr3 as an important regulator of uterine decidualization through targeting Hand2.
The adult heart requires baseline expression of the transcription factor Hand2 to withstand right ventricular pressure overload.
Title: The adult heart requires baseline expression of the transcription factor Hand2 to withstand right ventricular pressure overload.
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.
Long-term, induced expression of Hand2 in peripheral sympathetic neurons ameliorates sarcopenia in geriatric mice.
Title: Long-term, induced expression of Hand2 in peripheral sympathetic neurons ameliorates sarcopenia in geriatric mice.
HAND transcription factors cooperatively specify the aorta and pulmonary trunk.
Title: HAND transcription factors cooperatively specify the aorta and pulmonary trunk.
Gli3 utilizes Hand2 to synergistically regulate tissue-specific transcriptional networks.
Title: Gli3 utilizes Hand2 to synergistically regulate tissue-specific transcriptional networks.

Submit: New GeneRIF Correction See all GeneRIFs (71)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (10) 1 citation
Endonuclease-mediated (4) 1 citation

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

RH136001 (e-PCR)
- UniSTS:209997

RH135243 (e-PCR)
- UniSTS:218520

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

NoName (e-PCR)
- UniSTS:489135

AI661148 (e-PCR)
- UniSTS:165583

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

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
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	ISO Inferred from Sequence Orthology more info
contributes_to E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables minor groove of adenine-thymine-rich DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
contributes_to transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator binding	ISO Inferred from Sequence Orthology more info
enables transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic process involved in heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in cardiac neural crest cell development involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac neural crest cell migration involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle morphogenesis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within cartilage morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell proliferation involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in embryonic skeletal system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of epithelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchyme development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cardiac muscle cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of epithelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect norepinephrine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system neuron development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cardiac muscle hypertrophy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of p38MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of semaphorin-plexin signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within primary palate development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of secondary heart field cardioblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of tissue remodeling	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within suckling behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sympathetic nervous system development	IDA Inferred from Direct Assay more info	PubMed
involved_in thymus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tongue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visceral serous pericardium development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2; heart and neural crest derivatives expressed transcript 2; helix-loop-helix transcription factor expressed in embryo and deciduum; thing-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.

mRNA and Protein(s)

NM_010402.4 → NP_034532.3 heart- and neural crest derivatives-expressed protein 2

See identical proteins and their annotated locations for NP_034532.3

Status: VALIDATED

Source sequence(s)

AC119275, AK035160

Consensus CDS

CCDS22315.1

UniProtKB/Swiss-Prot

Q61039, Q61100

UniProtKB/TrEMBL

Q9EPN2

Related

ENSMUSP00000044983.4, ENSMUST00000040104.5

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