• Gene id: 9464

Gene Summary

• Gene Symbol: HAND2   Gene   UCSC   Ensembl
• Aliases: DHAND2, Hed, Thing2, bHLHa26, dHand
• Gene name: heart and neural crest derivatives expressed 2
• Alternate names: heart- and neural crest derivatives-expressed protein 2, 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,
• Gene location: 4q34.1 (173530228: 173526090)     Exons: 2     NC_000004.12
• Gene summary(Entrez): 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 cha

Protein Summary

• Protein general information: P61296  
  • Name: Heart and neural crest derivatives expressed protein 2 (Class A basic helix loop helix protein 26) (bHLHa26) (Deciduum, heart, autonomic nervous system and neural crest derivatives expressed protein 2) (dHAND)
  • Length: 217  
  • Mass: 23666
  • Tissue specificity: Heart.
• Sequence:

  MSLVGGFPHHPVVHHEGYPFAAAAAAAAAAAASRCSHEENPYFHGWLIGHPEMSPPDYSMALSYSPEYASGAAGL
  DHSHYGGVPPGAGPPGLGGPRPVKRRGTANRKERRRTQSINSAFAELRECIPNVPADTKLSKIKTLRLATSYIAY
  LMDLLAKDDQNGEAEAFKAEIKKTDVKEEKRKKELNEILKSTVSSNDKKTKGRTGWPQHVWALELKQ

• Structural information:
  • Protein Domains: (99..15-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000352565
• Other Databases: GeneCards:  HAND2  Malacards:  HAND2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0007507	heart development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000763	positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process	IEA	biological process
GO:1903929	primary palate development	IEA	biological process
GO:0061371	determination of heart left/right asymmetry	IEA	biological process
GO:0061325	cell proliferation involved in outflow tract morphogenesis	IEA	biological process
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	IEA	biological process
GO:0060536	cartilage morphogenesis	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0014032	neural crest cell development	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0010463	mesenchymal cell proliferation	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:2000764	positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0061032	visceral serous pericardium development	IEA	biological process
GO:0060982	coronary artery morphogenesis	IEA	biological process
GO:0060485	mesenchyme development	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048935	peripheral nervous system neuron development	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0043586	tongue development	IEA	biological process
GO:0043392	negative regulation of DNA binding	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007512	adult heart development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003278	apoptotic process involved in heart morphogenesis	IEA	biological process
GO:0003266	regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA	biological process
GO:0003219	cardiac right ventricle formation	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001967	suckling behavior	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	contributes to
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0008134	transcription factor binding	ISS	molecular function
GO:0008134	transcription factor binding	ISS	molecular function
GO:0033613	activating transcription factor binding	ISS	molecular function
GO:0070888	E-box binding	ISS	contributes to
GO:2000679	positive regulation of transcription regulatory region DNA binding	IDA	biological process
GO:0034103	regulation of tissue remodeling	IDA	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	IDA	biological process
GO:0003357	noradrenergic neuron differentiation	NAS	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0048538	thymus development	ISS	biological process
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	ISS	biological process
GO:2000763	positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process	ISS	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:1900745	positive regulation of p38MAPK cascade	IMP	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	IGI	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	IGI	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003266	regulation of secondary heart field cardioblast proliferation	ISS	biological process
GO:0005667	transcription regulator complex	ISS	cellular component
GO:0007512	adult heart development	IEP	biological process
GO:2000764	positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0003680	AT DNA binding	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0070888	E-box binding	IDA	molecular function
GO:0007507	heart development	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray