HAND2 - heart and neural crest derivatives expressed 2 Gene

Also Known as Hed; dHand; DHAND2; Thing2; bHLHa26

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9464

About HAND2

Cytogenetic location: 4q34.1 Genomic coordinates (GRCh38): 4:173,526,091-173,530,229 (from NCBI)

This gene has 3 transcripts (splice variants), 214 orthologues, 13 paralogues and is associated with 1 phenotype. Biased expression in endometrium (RPKM 25.0), adrenal (RPKM 21.4) and 12 other tissues.

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]

HAND2 Products (1)

mRNA	Protein	Name
NM_021973.3	NP_068808.1	heart- and neural crest derivatives-expressed protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15486975	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	15486975	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16280598	GOA
enables minor groove of adenine-thymine-rich DNA binding	IDA IDA: Inferred from direct assay	15486975	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15486975	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in adult heart development	IEP IEP: Inferred from expression pattern	9878849	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	24161931	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	24161931	GOA
involved in positive regulation of cardiac muscle hypertrophy	IDA IDA: Inferred from direct assay	24161931	GOA
involved in positive regulation of cardiac muscle hypertrophy	IGI IGI: Inferred from genetic interaction	24161931	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	24161931	GOA
involved in positive regulation of p38MAPK cascade	IMP IMP: Inferred from mutant phenotype	24161931	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15486975	GOA
involved in positive regulation of transcription regulatory region DNA binding	IDA IDA: Inferred from direct assay	16280598	GOA
involved in regulation of tissue remodeling	IDA IDA: Inferred from direct assay	24161931	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in chromatin	IDA IDA: Inferred from direct assay	16280598	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	15486975	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HAND2 Protein Structure

HLH

0
100
200
217 a.a.

Protein Preferred Names	Protein Names
heart- and neural crest derivatives-expressed protein 2	basic helix-loop-helix transcription factor HAND2

HAND2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	HAND2	P61296	TCF4	Homo sapiens	P15884	Validated Y2H	25416956
Intra	HAND2	P61296	TCF4	Homo sapiens	P15884	Anti Tag CoIP	33961781
Intra	HAND2	P61296	TCF4	Homo sapiens	P15884	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

HAND2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P89793	dHAND Antibody (YA9137)	WB, IP	human

Related Diseases

Diseases	Alias
Cardiomyopathy, Dilated, 1a	Dilated Cardiomyopathy 1a Cdcd1 CMD1A Cardiomyopathy, Familial Idiopathic Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Idiopathic Dilated Cardiomyopathy, Congestive Dilated Cardiomyopathy With Conduction Defect 1 Cardiomyopathy Dilated With Conduction Defect Type 1 Cardiomyopathy, Dilated 1a Cardiomyopathy Dilated With Conduction Defect 1 Cardiomyopathy, Dilated, Type 1a
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
Partial Trisomy Distal 4q	Distal Trisomy 4q Chromosome 4, Partial Trisomy 4q Distal 4q Trisomy Dup Syndrome, Partial Duplication 4q Syndrome, Partial Partial Trisomy 4q Syndrome Distal Duplication 4q Telomeric Duplication 4q Trisomy 4qter
Hypoplastic Right Heart Syndrome	Right Hypoplastic Heart Syndrome
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Tricuspid Atresia	Congenital Agenesis Of The Tricuspid Valve
Syndactyly, Type Iv	Syndactyly Type 4 Polysyndactyly, Haas Type SDTY4 Haas Type Syndactyly Sd4 Polysyndactyly Type Haas Syndactyly 4 Polysyndactyly Haas Type Syndactyly Type Iv
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Hypoplastic Or Aplastic Tibia With Polydactyly Absence Of Tibia With Polydactyly Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome THYP Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia Absent Tibia-Polydactyly Syndrome Werner Mesomelic Syndrome Hypoplastic Tibiae-Postaxial Polydactyly Syndrome Polydactyly With Absent Tibia Werner Mesomelic Spectrum Hypoplasia Or Aplasia Of Tibia With Polydactyly Wms Tibia, Hypoplasia Of, With Polydactyly
Syngnathia	Cleft Palate-Lateral Synechia Syndrome Cpls Syndrome Cleft Palate Lateral Synechia Syndrome
Inflammatory Bowel Disease 4	IBD4
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Laurin-Sandrow Syndrome	Sandrow Syndrome Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly Mirror Hands And Feet With Nasal Defects Tmip LSS Mip Mirror Hands And Feets-Nasal Defects Syndrome Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius Miccor Hands And Feet With Nasal Defects Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius Fibula Ulna Duplication Tibia Radius Absence Laurin Sandrow Syndrome Duplication Of Fibula And Ulna With Absence Of Tibia And Radius Segmental Laurin-Sandrow Syndrome Laurin-Sandrow Syndrome, Segmental
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Holt-Oram Syndrome	HOS Atriodigital Dysplasia Heart-Hand Syndrome Atrio-Digital Syndrome Cardiac-Limb Syndrome Heart-Hand Syndrome, Type 1 Ventriculo-Radial Syndrome Hos1 Heart Hand Syndrome Atrio Digital Syndrome Hos 1 Atriodigital Dysplasia Type 1 Heart-Hand Syndrome Type 1 Holt Oram Syndrome
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Apert Syndrome	Acrocephalosyndactyly Type I Acs1 Acrocephalosyndactylia Acrocephalosyndactyly Acs I Apert-Crouzon Disease Acrocephalosyndactyly Type 1 Acrocephalosyndactyly, Type I Acs 1 Acrocephalo-Syndactyly Type 1 Syndactylic Oxycephaly Apert'S Syndrome Type I Acrocephalosyndactyly APRS
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Physical Disorder	Physical Illness
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Orofacial Cleft	Cleft, Orofacial
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-177787A	2'-Deoxy-N-methyl-AMP ammonium		/	Unkown
HY-RS05997	HAND2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174480	Mouse Hand2 mRNA		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HAND2	VGNC	VGNC:29747
Rattus norvegicus	HAND2	RGD	RGD:621207
Canis familiaris	HAND2	VGNC	VGNC:58305
Macaca mulatta	HAND2	VGNC	VGNC:100233
Felis catus	HAND2	VGNC	VGNC:107338
Mus musculus	HAND2	MGD	MGI:103580
Others	HAND2	NCBI