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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q34.1
Chromosome location (bp)
173524969 - 173530229
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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. Also plays 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)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P61296 [Direct mapping] Heart- and neural crest derivatives-expressed protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001525[angiogenesis] GO:0001649[osteoblast differentiation] GO:0001701[in utero embryonic development] GO:0001947[heart looping] GO:0001967[suckling behavior] GO:0003007[heart morphogenesis] GO:0003219[cardiac right ventricle formation] GO:0003253[cardiac neural crest cell migration involved in outflow tract morphogenesis] GO:0003266[regulation of secondary heart field cardioblast proliferation] GO:0003278[apoptotic process involved in heart morphogenesis] GO:0003357[noradrenergic neuron differentiation] GO:0003677[DNA binding] GO:0003680[minor groove of adenine-thymine-rich DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0007507[heart development] GO:0007512[adult heart development] GO:0010463[mesenchymal cell proliferation] GO:0010613[positive regulation of cardiac muscle hypertrophy] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0014032[neural crest cell development] GO:0030154[cell differentiation] GO:0032502[developmental process] GO:0032991[protein-containing complex] GO:0034103[regulation of tissue remodeling] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042733[embryonic digit morphogenesis] GO:0042803[protein homodimerization activity] GO:0043392[negative regulation of DNA binding] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0043586[tongue development] GO:0045668[negative regulation of osteoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0048485[sympathetic nervous system development] GO:0048538[thymus development] GO:0048706[embryonic skeletal system development] GO:0048935[peripheral nervous system neuron development] GO:0060021[roof of mouth development] GO:0060485[mesenchyme development] GO:0060536[cartilage morphogenesis] GO:0060982[coronary artery morphogenesis] GO:0061032[visceral serous pericardium development] GO:0061309[cardiac neural crest cell development involved in outflow tract morphogenesis] GO:0061325[cell proliferation involved in outflow tract morphogenesis] GO:0061371[determination of heart left/right asymmetry] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070888[E-box binding] GO:0071300[cellular response to retinoic acid] GO:0071407[cellular response to organic cyclic compound] GO:1900745[positive regulation of p38MAPK cascade] GO:1903929[primary palate development] GO:1904019[epithelial cell apoptotic process] GO:1904036[negative regulation of epithelial cell apoptotic process] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000679[positive regulation of transcription regulatory region DNA binding] GO:2000763[positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process] GO:2000764[positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis]
The Human Protein Atlas project is funded
