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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... See more...
Aliases for HAND2 Gene
Aliases for HAND2 Gene
External Ids for HAND2 Gene
- HGNC: 4808
- NCBI Entrez Gene: 9464
- Ensembl: ENSG00000164107
- OMIM®: 602407
- UniProtKB/Swiss-Prot: P61296
Previous GeneCards Identifiers for HAND2 Gene
- GC04M175366
- GC04M174984
- GC04M175142
- GC04M174820
- GC04M174685
- GC04M174447
- GC04M170194
Summaries for HAND2 Gene
-
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]
GeneCards Summary for HAND2 Gene
HAND2 (Heart And Neural Crest Derivatives Expressed 2) is a Protein Coding gene. Diseases associated with HAND2 include Familial Isolated Dilated Cardiomyopathy and Partial Trisomy Distal 4Q. Among its related pathways are NFAT and Cardiac Hypertrophy and TarBasePathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is HAND1.
UniProtKB/Swiss-Prot Summary for HAND2 Gene
-
Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5'-CANNTG-3' (By similarity).
Additional gene information for HAND2 Gene
- HGNC (4808)
- NCBI Entrez Gene (9464)
- Ensembl (ENSG00000164107)
- OMIM® (602407)
- UniProtKB/Swiss-Prot (P61296)
- Open Targets Platform(ENSG00000164107)
- Monarch Initiative
- Search for HAND2 at DataMed
- Search for HAND2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAND2 Gene
Genomics for HAND2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HAND2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04J173520 | Promoter/Enhancer | 2.3 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 256.9 | +2.3 | 2262 | 14.1 | TBP SMAD5 SIN3A VEZF1 GABPA TAL1 YY1 PRDM10 SUPT5H CBX8 | HAND2-AS1 HAND2 SCRG1 lnc-HAND2-2 lnc-SAP30-21 | |
| GH04J173486 | Enhancer | 0.4 | Ensembl | 11.1 | +43.5 | 43528 | 1 | JUND RCOR1 GATA2 EP300 | RNU6-1096P SCRG1 HAND2 HAND2-AS1 HSALNG0038604 HSALNG0038605 lnc-HAND2-2 SAP30 | |
| GH04J173514 | Enhancer | 0.5 | FANTOM5 dbSUPER | 5.4 | +15.8 | 15781 | 0.3 | EZH2 | HSALNG0038608 lnc-SAP30-21 RNU6-1096P HAND2 SCRG1 lnc-HAND2-2 SAP30 | |
| GH04J173907 | Enhancer | 0.3 | UCNEbase | 5 | -377.0 | -376985 | 0.2 | HAND2 ENSG00000250043 piR-54987-100 LINC02269 FBXO8 | ||
| GH04J173746 | Enhancer | 0.4 | FANTOM5 | 4.5 | -216.4 | -216364 | 0.1 | ZIC2 ZNF335 | lnc-SAP30-19 HAND2 lnc-SAP30-20 LINC02269 FBXO8 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HAND2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAND2
- Top Transcription factor binding sites by QIAGEN in the HAND2 gene promoter:
-
- aMEF-2
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
- AP-2alphaA
- MEF-2A
- Nkx2-5
Genomic Locations for HAND2 Gene
Latest Assembly
- chr4:173,524,969-173,530,229
- (GRCh38/hg38)
- Size:
- 5,261 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:174,447,242-174,451,380
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 4,139 bases
- Orientation:
- Minus strand
- chr4:174,446,120-174,451,380
- (GRCh37/hg19 by Ensembl)
- Size:
- 5,261 bases
- Orientation:
- Minus strand
Genomic View for HAND2 Gene
Genes around HAND2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q34.1 by HGNC
- 4q34.1 by Entrez Gene
- 4q34.1 by Ensembl
HAND2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HAND2 Gene
Proteins for HAND2 Gene
-
Protein details for HAND2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P61296-HAND2_HUMAN
- Recommended name:
- Heart- and neural crest derivatives-expressed protein 2
- Protein Accession:
- P61296
- B6ECG9
- O95300
- O95301
- P97833
- Q494T1
Protein attributes for HAND2 Gene
- Size:
- 217 amino acids
- Molecular mass:
- 23666 Da
- Quaternary structure:
-
- Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND1 and HEY1, HEY2 and HEYL (hairy-related transcription factors) (By similarity).
Protein Expression for HAND2 Gene
Post-translational modifications for HAND2 Gene
Other Protein References for HAND2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences DHAND / HAND2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for HAND2
- Novus Biologicals Antibodies for HAND2
-
Abcam antibodies for HAND2
- Invitrogen Antibodies for HAND2 (AFLGC-HAND2)
-
Custom Antibody ServicesProSci Antibodies for HAND2
-
Santa Cruz Biotechnology (SCBT) Antibodies for HAND2
Protein products for research
-
OriGene Purified Proteins for HAND2
- Search Origene for MassSpec and Protein Over-expression Lysates for HAND2
- Origene Custom Protein Services for HAND2
-
Abcam proteins for HAND2
Assay products for research
No data available for DME Specific Peptides for HAND2 Gene
Domains & Families for HAND2 Gene
Gene Families for HAND2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for HAND2 Gene
- InterPro:
- Blocks:
-
- Basic helix-loop-helix dimerization domain bHLH
- ProtoNet:
Suggested Antigen Peptide Sequences for HAND2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ16260 fis, clone IMR322006947, highly similar to Heart- and neural crest derivatives-expressed protein 2 (B3KV85_HUMAN)
- Heart and neural crest derivatives expressed 2, isoform CRA_a (B6ECG9_HUMAN)
- Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2 (HAND2_HUMAN)
- HAND2 protein (Q32LY2_HUMAN)
- HAND2 protein (Q3T1D5_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HAND2 Gene
Function for HAND2 Gene
Molecular function for HAND2 Gene
- UniProtKB/Swiss-Prot Function:
- Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5'-CANNTG-3' (By similarity).
- GENATLAS Biochemistry:
- heart and neural crest derivatives expressed 2,also expressed in the deciduum,murine bHAND homolog,activating UFD1L in neural crest mesenchyme,acting in a complementary fashion with HAND1 in the formation of right ventricles and aortic arches
Phenotypes From GWAS Catalog for HAND2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | contributes_to transcription regulatory region sequence-specific DNA binding | IEA,ISS | -- |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 16280598 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 15486975 |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for HAND2 Gene
- MGI mutant phenotypes for HAND2:
-
inferred from 10 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for HAND2:
Animal Models for HAND2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HAND2 - Starting at $85 >
- * HAND2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HAND2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HAND2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HAND2
miRNA for HAND2 Gene
- miRTarBase miRNAs that target HAND2
-
- hsa-miR-1-3p (MIRT001843)
- mmu-miR-1a-3p (MIRT002926)
- gga-miR-1a-3p (MIRT005366)
- dre-miR-1 (MIRT005368)
- mmu-miR-363-3p (MIRT005499)
- hsa-miR-25-3p (MIRT438482)
- hsa-miR-7850-5p (MIRT488630)
- hsa-miR-6515-5p (MIRT488631)
- hsa-miR-4443 (MIRT488632)
- hsa-miR-7111-5p (MIRT488633)
- hsa-miR-6870-5p (MIRT488634)
- hsa-miR-5698 (MIRT488635)
- hsa-miR-4723-5p (MIRT488636)
- hsa-miR-939-5p (MIRT488637)
- hsa-miR-1343-5p (MIRT488638)
- hsa-miR-3175 (MIRT488639)
- hsa-miR-6797-5p (MIRT488640)
- hsa-miR-1249-5p (MIRT488641)
- hsa-miR-6081 (MIRT488642)
- hsa-miR-139-3p (MIRT488643)
- hsa-miR-4468 (MIRT488644)
- hsa-miR-6777-5p (MIRT488645)
- hsa-miR-6889-5p (MIRT488646)
- hsa-miR-6794-5p (MIRT488647)
- hsa-miR-4716-3p (MIRT488648)
- hsa-miR-483-5p (MIRT488649)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HAND2
- Browse OriGene Inhibitory RNA Products For HAND2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAND2
Clone products for research
- Applied Biological Materials (abm): Clones for HAND2 - Starting at $45 >
- * HAND2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HAND2
- Addgene plasmids for HAND2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HAND2
Cell Lines for research
- ESI BIO PureStem MEL2, NCr-fac Progenitor and PureStem Z11, Meso Progenitor for HAND2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HAND2 Gene
Localization for HAND2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HAND2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | IDA | 16280598 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005667 | transcription factor complex | IEA,ISS | -- |
| GO:0032991 | protein-containing complex | IDA | 15486975 |
Pathways & Interactions for HAND2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NFAT and Cardiac Hypertrophy |
NFAT and Cardiac Hypertrophy
.42
|
Signaling Involved in Cardiac Hypertrophy
.42
|
| 2 | Heart Development | ||
| 3 | TarBasePathway | ||
Pathways by source for HAND2 Gene
2 BioSystems pathways for HAND2 Gene
2 Qiagen pathways for HAND2 Gene
- NFAT and Cardiac Hypertrophy
- Signaling Involved in Cardiac Hypertrophy
Interacting Proteins for HAND2 Gene
Selected Interacting proteins:
P61296-HAND2_HUMAN
ENSP00000352565
for HAND2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HAND2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0001947 | heart looping | IEA | -- |
| GO:0001967 | suckling behavior | IEA | -- |
| GO:0003007 | heart morphogenesis | IEA | -- |
Transcripts for HAND2 Gene
mRNA/cDNA for HAND2 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000359562 2780 nts (view in UCSC)
- ENST00000503024 706 nts (view in UCSC)
- ENST00000505300 1373 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HAND2 - Starting at $85 >
- * HAND2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HAND2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HAND2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HAND2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HAND2
- Browse OriGene Inhibitory RNA Products For HAND2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAND2
Clone products for research
- Applied Biological Materials (abm): Clones for HAND2 - Starting at $45 >
- * HAND2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HAND2
- Addgene plasmids for HAND2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HAND2
Relevant External Links for HAND2 Gene
- GeneLoc Exon Structure for
- HAND2
Expression for HAND2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Heart Tube Cells Heart Tube
- Primitive Heart Tube Cells Primitive Heart Tube
- Cardiomyocytes Outer Curvature
- Cardiomyocytes Outflow Tract
- Cardiomyocytes Right Ventricle
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
- Cranial Neural Crest Cells Branchial Arch 2
- Cranial Neural Crest Cells Branchial Arch 1
- Cardiac Neural Crest Cells Cardiac Neural Crest
- PureStem MEL2, NCr-fac Progenitor
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
- Cranial Neural Crest Cells Branchial Arch 2
- Cranial Neural Crest Cells Branchial Arch 1
mRNA differential expression in normal tissues according to GTEx for HAND2 Gene
This gene is overexpressed in Colon - Sigmoid (x7.4) and Heart - Left Ventricle (x4.2).
This gene is overexpressed in Retina (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HAND2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAND2
SOURCE GeneReport for Unigene cluster for HAND2 Gene:
Hs.388245mRNA Expression by UniProt/SwissProt for HAND2 Gene:
P61296-HAND2_HUMAN
Tissue specificity:
Heart.
Evidence on tissue expression from TISSUES for HAND2 Gene
- Heart(3.2)
- Muscle(3.2)
- Adrenal gland(2.3)
- Nervous system(2.2)
- Skin(2.1)
- Intestine(2.1)
- Blood(2)
Primer products for research
-
OriGene qPCR primer pairs for HAND2
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HAND2 Gene
Orthologs for HAND2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HAND2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HAND2 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HAND2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hand2 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HAND2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hand2 30 |
|
||
| Chicken (Gallus gallus) |
Aves | TWIST3 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | HAND2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hand2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | hand2-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hand2 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12116 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Hand 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4380 31 |
|
OneToMany |
- Species where no ortholog for HAND2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for HAND2 Gene
- ENSEMBL:
- Gene Tree for HAND2 (if available)
- TreeFam:
- Gene Tree for HAND2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HAND2: view image
Paralogs for HAND2 Gene
Paralogs for HAND2 Gene
(9) SIMAP similar genes for HAND2 Gene using alignment to 6 proteins:
- HAND2_HUMAN
- B3KV85_HUMAN
- H0YAH1_HUMAN
- Q32LY2_HUMAN
- Q3T1D5_HUMAN
- Q494T1_HUMAN
Variants for HAND2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAND2 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1553974835 | Pathogenic: Dilated cardiomyopathy 1A | 173,529,091(-) |
C/A NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) |
NONSENSE | |
| rs483353128 | Likely Pathogenic: not provided | 173,528,900(-) |
G/T NM_021973.3(HAND2):c.390C>A (p.Pro130=) |
SYNONYMOUS | |
| rs758014710 | Likely Benign: not provided | 173,529,176(-) |
C/T NM_021973.3(HAND2):c.114G>A (p.Glu38=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.97;
19.97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HAND2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAND2 Gene
Disorders for HAND2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial isolated dilated cardiomyopathy |
|
|
| partial trisomy distal 4q |
|
|
| saethre-chotzen syndrome |
|
|
| heart disease |
|
|
| hypoplastic right heart syndrome |
|
|
Search HAND2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HAND2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for HAND2 Gene
Publications for HAND2 Gene
- Molecular cloning of the human HAND2 gene. (PMID: 9878849) Russell MW … Izumo S (Biochimica et biophysica acta 1998) 2 3 4
- Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
- Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease. (PMID: 20819618) Shen L … Li ZZ (Chinese medical journal 2010) 3 41
- Co-regulated expression of HAND2 and DEIN by a bidirectional promoter with asymmetrical activity in neuroblastoma. (PMID: 19348682) Voth H … Fischer M (BMC molecular biology 2009) 3 4
- Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. (PMID: 19008477) Morikawa Y … Cserjesi P (Circulation research 2008) 3 23
ExternalLinks
Products for HAND2 Gene
- Custom Antibody ServicesOriGene Antibodies for HAND2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HAND2
- Search Origene for MassSpec and Protein Over-expression Lysates for HAND2
- Origene Custom Protein Services for HAND2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HAND2
- Browse OriGene Inhibitory RNA Products For HAND2
- OriGene qPCR primer pairs for HAND2
- OriGene CRISPR knockouts for HAND2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HAND2
- Sino Biological Human cDNA Clone for HAND2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for HAND2
- Novus Biologicals proteins and lysates for HAND2
- Browse Antibodies
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- Abcam antibodies for HAND2
- Abcam proteins for HAND2
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- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ESI BIO PureStem MEL2, NCr-fac Progenitor and PureStem Z11, Meso Progenitor for HAND2
- Invitrogen Antibodies for HAND2 (AFLGC-HAND2)
- VectorBuilder Custom and pre-made DNA vectors for HAND2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HAND2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HAND2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HAND2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HAND2
- Addgene plasmids for HAND2
- antibodies-online: Show 28 available HAND2 Antibodies ranked by validation data
- Compare Top HAND2 Antibodies
- antibodies-online: Show 10 available HAND2 Elisa Kits ranked by validation data
- Compare Top HAND2 Elisa Kits
- Quality Products:
- antibodies-online: Show 9 available HAND2 Proteins ranked by validation data
- Compare Top HAND2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for HAND2
- Search Santa Cruz Biotechnology (SCBT) for HAND2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HAND2
- Custom Antibody ServicesProSci Antibodies for HAND2
- Search for HAND2 Proteins at ProSci
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HAND2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HAND2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HAND2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAND2
Sources for HAND2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB