Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9421
Gene name	Heart and neural crest derivatives expressed 1
Gene symbol	HAND1
Synonyms (NCBI Gene)	HxtThing1bHLHa27eHand
Chromosome	5
Chromosome location	5q33.2
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 cha

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026100	hsa-miR-196a-5p	Sequencing	20371350
MIRT032179	hsa-let-7d-5p	Sequencing	20371350
MIRT052125	hsa-let-7b-5p	CLASH	23622248
MIRT037374	hsa-miR-877-5p	CLASH	23622248
MIRT557379	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT052125	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT557378	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT557377	hsa-miR-4500	PAR-CLIP	21572407
MIRT557376	hsa-miR-4458	PAR-CLIP	21572407
MIRT557375	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT557374	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT557373	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT557372	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT557371	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT032179	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT557370	hsa-miR-296-3p	PAR-CLIP	21572407
MIRT557369	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT557368	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT557367	hsa-miR-499b-5p	PAR-CLIP	21572407
MIRT557366	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT557365	hsa-miR-1207-5p	PAR-CLIP	21572407
MIRT557364	hsa-miR-4763-3p	PAR-CLIP	21572407
MIRT557362	hsa-miR-4736	PAR-CLIP	21572407
MIRT557363	hsa-miR-4450	PAR-CLIP	21572407
MIRT557361	hsa-miR-4650-3p	PAR-CLIP	21572407
MIRT557360	hsa-miR-92a-1-5p	PAR-CLIP	21572407
MIRT557359	hsa-miR-7150	PAR-CLIP	21572407
MIRT557358	hsa-miR-2110	PAR-CLIP	21572407
MIRT557357	hsa-miR-6810-5p	PAR-CLIP	21572407
MIRT557356	hsa-miR-3150a-3p	PAR-CLIP	21572407
MIRT557355	hsa-miR-6763-5p	PAR-CLIP	21572407
MIRT557354	hsa-miR-6857-5p	PAR-CLIP	21572407
MIRT557353	hsa-miR-450a-2-3p	PAR-CLIP	21572407
MIRT557352	hsa-miR-4655-5p	PAR-CLIP	21572407
MIRT557379	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT052125	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT557378	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT557377	hsa-miR-4500	PAR-CLIP	21572407
MIRT557376	hsa-miR-4458	PAR-CLIP	21572407
MIRT557375	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT557374	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT557373	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT557372	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT557371	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT032179	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT557370	hsa-miR-296-3p	PAR-CLIP	21572407
MIRT557369	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT557368	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT557367	hsa-miR-499b-5p	PAR-CLIP	21572407
MIRT557366	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT557365	hsa-miR-1207-5p	PAR-CLIP	21572407
MIRT557364	hsa-miR-4763-3p	PAR-CLIP	21572407
MIRT557362	hsa-miR-4736	PAR-CLIP	21572407
MIRT557363	hsa-miR-4450	PAR-CLIP	21572407
MIRT557361	hsa-miR-4650-3p	PAR-CLIP	21572407
MIRT557360	hsa-miR-92a-1-5p	PAR-CLIP	21572407
MIRT557359	hsa-miR-7150	PAR-CLIP	21572407
MIRT557358	hsa-miR-2110	PAR-CLIP	21572407
MIRT557357	hsa-miR-6810-5p	PAR-CLIP	21572407
MIRT557356	hsa-miR-3150a-3p	PAR-CLIP	21572407
MIRT557355	hsa-miR-6763-5p	PAR-CLIP	21572407
MIRT557354	hsa-miR-6857-5p	PAR-CLIP	21572407
MIRT557353	hsa-miR-450a-2-3p	PAR-CLIP	21572407
MIRT557352	hsa-miR-4655-5p	PAR-CLIP	21572407
MIRT026100	hsa-miR-196a-5p	Luciferase reporter assayWestern blottingqRT-PCR	35466323
MIRT1040564	hsa-let-7a	CLIP-seq
MIRT1040565	hsa-let-7b	CLIP-seq
MIRT1040566	hsa-let-7c	CLIP-seq
MIRT1040567	hsa-let-7d	CLIP-seq
MIRT1040568	hsa-let-7e	CLIP-seq
MIRT1040569	hsa-let-7f	CLIP-seq
MIRT1040570	hsa-let-7g	CLIP-seq
MIRT1040571	hsa-let-7i	CLIP-seq
MIRT1040572	hsa-miR-1270	CLIP-seq
MIRT1040573	hsa-miR-202	CLIP-seq
MIRT1040574	hsa-miR-3153	CLIP-seq
MIRT1040575	hsa-miR-3158-3p	CLIP-seq
MIRT1040576	hsa-miR-3927	CLIP-seq
MIRT1040577	hsa-miR-4446-3p	CLIP-seq
MIRT1040578	hsa-miR-4656	CLIP-seq
MIRT1040579	hsa-miR-4683	CLIP-seq
MIRT1040580	hsa-miR-4760-5p	CLIP-seq
MIRT1040581	hsa-miR-4799-5p	CLIP-seq
MIRT1040582	hsa-miR-499a-5p	CLIP-seq
MIRT1040583	hsa-miR-548ae	CLIP-seq
MIRT1040584	hsa-miR-548aj	CLIP-seq
MIRT1040585	hsa-miR-548am	CLIP-seq
MIRT1040586	hsa-miR-548x	CLIP-seq
MIRT1040587	hsa-miR-620	CLIP-seq
MIRT1040588	hsa-miR-98	CLIP-seq
MIRT1040564	hsa-let-7a	CLIP-seq
MIRT1040565	hsa-let-7b	CLIP-seq
MIRT1040566	hsa-let-7c	CLIP-seq
MIRT1040567	hsa-let-7d	CLIP-seq
MIRT1040568	hsa-let-7e	CLIP-seq
MIRT1040569	hsa-let-7f	CLIP-seq
MIRT1040570	hsa-let-7g	CLIP-seq
MIRT1040571	hsa-let-7i	CLIP-seq
MIRT1040573	hsa-miR-202	CLIP-seq
MIRT2544463	hsa-miR-377	CLIP-seq
MIRT1040576	hsa-miR-3927	CLIP-seq
MIRT1040582	hsa-miR-499a-5p	CLIP-seq
MIRT1040588	hsa-miR-98	CLIP-seq

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11802795
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	11802795
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	11802795
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	16043483
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11802795
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001824	Process	Blastocyst development	IEP	11802795
GO:0001829	Process	Trophectodermal cell differentiation	IEP	11802795
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003144	Process	Embryonic heart tube formation	IEA
GO:0003218	Process	Cardiac left ventricle formation	IMP	18276607
GO:0003219	Process	Cardiac right ventricle formation	IMP	18276607
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	16043483, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	11802795
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	11802795
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0019899	Function	Enzyme binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043425	Function	BHLH transcription factor binding	IPI	11802795
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11802795, 16043483
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	18276607
GO:0060411	Process	Cardiac septum morphogenesis	IMP	19586923
GO:0060485	Process	Mesenchyme development	IEA
GO:0060536	Process	Cartilage morphogenesis	IEA
GO:0060707	Process	Trophoblast giant cell differentiation	IEA
GO:0060707	Process	Trophoblast giant cell differentiation	ISS
GO:0061371	Process	Determination of heart left/right asymmetry	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	16043483
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	11802795

MIM	HGNC	e!Ensembl
602406	4807	ENSG00000113196

O96004

Protein name

Heart- and neural crest derivatives-expressed protein 1 (Class A basic helix-loop-helix protein 27) (bHLHa27) (Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1) (eHAND)

Protein function

Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (By similarity). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity). Acts as a transcriptional r

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	95 → 147	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Heart.

Sequence

MNLVGSYAHHHHHHHPHPAHPMLHEPFLFGPASRCHQERPYFQSWLLSPADAAPDFPAGG
PPPAAAAAATAYGPDARPGQSPGRLEALGGRLGRRKGSGPKKERRRTESINSAFAELREC
IPNVPADTKLSKIKTLRLATSYIAYLMDVLAKDAQSGDPEAFKAELKKADGGRESKRKRE
LQQHEGFPPALGPVEKRIKGRTGWPQQVWALELNQ

Sequence length

215

Interactions

View interactions

	KEGG
	Signaling pathways regulating pluripotency of stem cells

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HAND1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic left heart syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	24623737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20345486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36594085	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11549340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	11549340, 26581070, 30217752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26581070, 28902616, 30217752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24623737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25032847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19723660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25032847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	20155416, 31286141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	10189962, 19586923, 21462297, 22032825, 26581070		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	21559426, 31286141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18276607, 19586923, 21519287, 22032825, 27589475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	28112363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29866822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	29866822, 33451979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	19376125, 22395650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32664164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21559426, 31286141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	19586923, 22032825, 31286141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25822971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32664164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	BEFREE	22043484, 28608148, 29016838		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	28608148	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	25050861, 28608148, 29016838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	20345486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	11549340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated hypoplasia of the right ventricle	Isolated right ventricular hypoplasia	BEFREE	10189962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16475210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24623737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25032847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24623737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	12163362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24623737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis, Type 3, mixed central and peripheral	Neurofibromatosis	BEFREE	26430762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	BEFREE	31286141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16475210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16475210, 26087797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36594085	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	21519287, 22043484, 22672592, 24182332, 27942761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	24182332	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Remodeling	Ventricular remodeling	Pubtator	32664164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	22032825, 28112363		★★★★★ ★☆☆☆☆ Found in Text Mining only

HAND1 (heart and neural crest derivatives expressed 1)