| Tag | Content |
|---|---|
| Uniprot ID | Q61039; Q61100; |
| Entrez ID | 15111 |
| Genbank protein ID | BAC28965.1; AAC52338.1; AAA86274.1; |
| Genbank nucleotide ID | NM_010402.4 |
| Ensembl protein ID | ENSMUSP00000044983 |
| Ensembl nucleotide ID | ENSMUSG00000038193 |
| Gene name | Heart- and neural crest derivatives-expressed protein 2 |
| Gene symbol | Hand2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E14.5 |
| Data sources | Manually collected |
| Reference | 17531968; 12571099; 19341725; |
| Functional description | 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'. |
| Sequence | MSLVGGFPHH PVVHHEGYPF AAAAAAAAAA AASRCSHEEN PYFHGWLIGH PEMSPPDYSM 60 ALSYSPEYAS GAAGLDHSHY GGVPPGAGPP GLGGPRPVKR RGTANRKERR RTQSINSAFA 120 ELRECIPNVP ADTKLSKIKT LRLATSYIAY LMDLLAKDDQ NGEAEAFKAE IKKTDVKEEK 180 RKKELNEILK STVSSNDKKT KGRTGWPQHV WALELKQ 217 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | HAND2 | 102171973 | A0A452ECE7 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | HAND2 | 9464 | P61296 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Hand2 | 15111 | Q61039 | CPO | E14.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | HAND2 | 741581 | H2R7W4 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | HAND2 | A0A287BKC6 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Hand2 | A0A0G2K7Q4 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | hand2 | 58150 | A2BDM6 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | ISO |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0003680 | AT DNA binding | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | ISO |
| GO:0008134 | transcription factor binding | IPI |
| GO:0033613 | activating transcription factor binding | ISS |
| GO:0033613 | activating transcription factor binding | ISO |
| GO:0042803 | protein homodimerization activity | IPI |
| GO:0043565 | sequence-specific DNA binding | IGI |
| GO:0070888 | E-box binding | ISO |
| GO:0070888 | E-box binding | IDA |
| GO:0044212 | transcription regulatory region DNA binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001525 | angiogenesis | IEA |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001947 | heart looping | IMP |
| GO:0001967 | suckling behavior | IMP |
| GO:0003007 | heart morphogenesis | IMP |
| GO:0003219 | cardiac right ventricle formation | IMP |
| GO:0003253 | cardiac neural crest cell migration involved in outflow tract morphogenesis | IMP |
| GO:0003266 | regulation of secondary heart field cardioblast proliferation | IMP |
| GO:0003278 | apoptotic process involved in heart morphogenesis | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | IDA |
| GO:0007507 | heart development | IGI |
| GO:0007512 | adult heart development | IMP |
| GO:0010463 | mesenchymal cell proliferation | IMP |
| GO:0010613 | positive regulation of cardiac muscle hypertrophy | ISO |
| GO:0010628 | positive regulation of gene expression | ISO |
| GO:0010629 | negative regulation of gene expression | ISO |
| GO:0010667 | negative regulation of cardiac muscle cell apoptotic process | IMP |
| GO:0014032 | neural crest cell development | IMP |
| GO:0034103 | regulation of tissue remodeling | ISO |
| GO:0042475 | odontogenesis of dentin-containing tooth | IGI |
| GO:0042733 | embryonic digit morphogenesis | IDA |
| GO:0043066 | negative regulation of apoptotic process | IMP |
| GO:0043392 | negative regulation of DNA binding | IDA |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | IDA |
| GO:0043586 | tongue development | IMP |
| GO:0045668 | negative regulation of osteoblast differentiation | IDA |
| GO:0045668 | negative regulation of osteoblast differentiation | IMP |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045893 | positive regulation of transcription, DNA-templated | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0048485 | sympathetic nervous system development | IDA |
| GO:0048538 | thymus development | IMP |
| GO:0048935 | peripheral nervous system neuron development | IDA |
| GO:0060021 | roof of mouth development | IMP |
| GO:0060485 | mesenchyme development | IGI |
| GO:0060536 | cartilage morphogenesis | IGI |
| GO:0060982 | coronary artery morphogenesis | IMP |
| GO:0061032 | visceral serous pericardium development | IMP |
| GO:0061309 | cardiac neural crest cell development involved in outflow tract morphogenesis | IMP |
| GO:0061325 | cell proliferation involved in outflow tract morphogenesis | IMP |
| GO:0061371 | determination of heart left/right asymmetry | IMP |
| GO:0070374 | positive regulation of ERK1 and ERK2 cascade | ISO |
| GO:1900745 | positive regulation of p38MAPK cascade | ISO |
| GO:1903929 | primary palate development | IMP |
| GO:2000679 | positive regulation of transcription regulatory region DNA binding | ISO |
| GO:2000763 | positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process | IMP |
| GO:2000764 | positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000790 | nuclear chromatin | ISO |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005667 | transcription factor complex | IDA |
| GO:0032991 | protein-containing complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| PROSITE ID | PROSITE Term |
|---|---|
| PS50888 | BHLH |
| Pfam ID | Pfam Term |
|---|---|
| PF00010 | HLH |