Protein: Heart- and neural crest derivatives-expressed protein 2 (Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2) (dHAND) (Helix-loop-helix transcription factor expressed in embryo and deciduum) (Thing-2) (Q61039)
Organism: Mus musculus (Mouse)
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. 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'.
Subcellular location: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
Sequence: MSLVGGFPHHPVVHHEGYPFAAAAAAAAAAAASRCSHEENPYFHGWLIGHPEMSPPDYSMALSYSPEYASGAAGLDHSHYGGVPPGAGPPGLGGPRPVKRRGTANRKERRRTQSINSAFAELRECIPNVPADTKLSKIKTLRLATSYIAYLMDLLAKDDQNGEAEAFKAEIKKTDVKEEKRKKELNEILKSTVSSNDKKTKGRTGWPQHVWALELKQ
InterPro domains: - IPR011598: Myc-type, basic helix-loop-helix (bHLH) domain (domain) [99-157]
- IPR036638: Helix-loop-helix DNA-binding domain superfamily (homologous_superfamily) [97-164]
- IPR050283: E-box Binding Transcriptional Regulators (family) [85-212]
Interaction partners: - Transcription factor GATA-4
- Homeobox protein Nkx-2.5
- T-box transcription factor TBX5
- Runt-related transcription factor 2
- Interleukin-4
- Interleukin-13
- Interferon gamma
- T-cell surface glycoprotein CD4
- Interleukin-5
- Trans-acting T-cell-specific transcription factor GATA-3
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0140110 (transcription regulator activity), GO:1901363 (heterocyclic compound binding), GO:0003700 (DNA-binding transcription factor activity), GO:0097159 (organic cyclic compound binding), GO:0005515 (protein binding), GO:0003676 (nucleic acid binding), GO:0001216 (DNA-binding transcription activator activity), GO:0000981 (DNA-binding transcription factor activity, RNA polymerase II-specific), GO:0001228 (DNA-binding transcription activator activity, RNA polymerase II-specific), GO:0001067 (transcription regulatory region nucleic acid binding), GO:0003677 (DNA binding), GO:0003690 (double-stranded DNA binding), GO:0043565 (sequence-specific DNA binding), GO:0000217 (DNA secondary structure binding), GO:0000976 (transcription cis-regulatory region binding), GO:1990837 (sequence-specific double-stranded DNA binding), GO:0003680 (minor groove of adenine-thymine-rich DNA binding), GO:0000987 (cis-regulatory region sequence-specific DNA binding), GO:0000977 (RNA polymerase II transcription regulatory region sequence-specific DNA binding), GO:0000978 (RNA polymerase II cis-regulatory region sequence-specific DNA binding), GO:0070888 (E-box binding)
Biological Process (BP): GO:0008150 (biological process), GO:0048518 (positive regulation of biological process), GO:0050789 (regulation of biological process), GO:0032501 (multicellular organismal process), GO:0065007 (biological regulation), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0048519 (negative regulation of biological process), GO:0048869 (cellular developmental process), GO:0048856 (anatomical structure development), GO:0023056 (positive regulation of signaling), GO:0007275 (multicellular organism development), GO:0009653 (anatomical structure morphogenesis), GO:0048584 (positive regulation of response to stimulus), GO:0019222 (regulation of metabolic process), GO:0007389 (pattern specification process), GO:0048646 (anatomical structure formation involved in morphogenesis), GO:0009892 (negative regulation of metabolic process), GO:0048522 (positive regulation of cellular process), GO:0050794 (regulation of cellular process), GO:0048583 (regulation of response to stimulus), GO:0009893 (positive regulation of metabolic process), GO:0023051 (regulation of signaling), GO:0065009 (regulation of molecular function), GO:0048523 (negative regulation of cellular process), GO:0009967 (positive regulation of signal transduction), GO:0001824 (blastocyst development), GO:0051172 (negative regulation of nitrogen compound metabolic process), GO:0048729 (tissue morphogenesis), GO:0010604 (positive regulation of macromolecule metabolic process), GO:0030154 (cell differentiation), GO:0044092 (negative regulation of molecular function), GO:0048731 (system development), GO:0048513 (animal organ development), GO:0009966 (regulation of signal transduction), GO:0060255 (regulation of macromolecule metabolic process), GO:0031324 (negative regulation of cellular metabolic process), GO:0001825 (blastocyst formation), GO:0009891 (positive regulation of biosynthetic process), GO:0061061 (muscle structure development), GO:0009887 (animal organ morphogenesis), GO:0001756 (somitogenesis), GO:0009888 (tissue development), GO:0003002 (regionalization), GO:0031325 (positive regulation of cellular metabolic process), GO:0010646 (regulation of cell communication), GO:0010605 (negative regulation of macromolecule metabolic process), GO:0051090 (regulation of DNA-binding transcription factor activity), GO:0009889 (regulation of biosynthetic process), GO:0051171 (regulation of nitrogen compound metabolic process), GO:0009790 (embryo development), GO:0031323 (regulation of cellular metabolic process), GO:0009890 (negative regulation of biosynthetic process), GO:0010647 (positive regulation of cell communication), GO:0080090 (regulation of primary metabolic process), GO:0051173 (positive regulation of nitrogen compound metabolic process), GO:0035282 (segmentation), GO:0010556 (regulation of macromolecule biosynthetic process), GO:0060415 (muscle tissue morphogenesis), GO:0048644 (muscle organ morphogenesis), GO:0061053 (somite development), GO:0010468 (regulation of gene expression), GO:0043433 (negative regulation of DNA-binding transcription factor activity), GO:0009948 (anterior/posterior axis specification), GO:0010557 (positive regulation of macromolecule biosynthetic process), GO:0045935 (positive regulation of nucleobase-containing compound metabolic process), GO:0051254 (positive regulation of RNA metabolic process), GO:0003007 (heart morphogenesis), GO:0072359 (circulatory system development), GO:0060537 (muscle tissue development), GO:0031326 (regulation of cellular biosynthetic process), GO:0019219 (regulation of nucleobase-containing compound metabolic process), GO:0010558 (negative regulation of macromolecule biosynthetic process), GO:0031327 (negative regulation of cellular biosynthetic process), GO:0051252 (regulation of RNA metabolic process), GO:0007517 (muscle organ development), GO:0060429 (epithelium development), GO:0051253 (negative regulation of RNA metabolic process), GO:0045934 (negative regulation of nucleobase-containing compound metabolic process), GO:0031328 (positive regulation of cellular biosynthetic process), GO:0007507 (heart development), GO:0009792 (embryo development ending in birth or egg hatching), GO:0043009 (chordate embryonic development), GO:2000677 (regulation of transcription regulatory region DNA binding), GO:0014706 (striated muscle tissue development), GO:0048738 (cardiac muscle tissue development), GO:0055008 (cardiac muscle tissue morphogenesis), GO:2001141 (regulation of RNA biosynthetic process), GO:0006355 (regulation of DNA-templated transcription), GO:1902680 (positive regulation of RNA biosynthetic process), GO:1902679 (negative regulation of RNA biosynthetic process), GO:0045893 (positive regulation of DNA-templated transcription), GO:0045892 (negative regulation of DNA-templated transcription), GO:1903507 (negative regulation of nucleic acid-templated transcription), GO:1903508 (positive regulation of nucleic acid-templated transcription), GO:1903506 (regulation of nucleic acid-templated transcription), GO:0045944 (positive regulation of transcription by RNA polymerase II)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0043231 (intracellular membrane-bounded organelle), GO:0005634 (nucleus)