| Tag | Content |
|---|---|
| Uniprot ID | P61296; B6ECG9; O95300; O95301; P97833; Q494T1; |
| Entrez ID | 9464 |
| Genbank protein ID | AAI01407.1; AAD13186.1; AAD13185.1; EAX04749.1; ACI42790.1; |
| Genbank nucleotide ID | NM_021973.2 |
| Ensembl protein ID | ENSP00000352565 |
| Ensembl nucleotide ID | ENSG00000164107 |
| Gene name | Heart- and neural crest derivatives-expressed protein 2 |
| Gene symbol | HAND2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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' (By similarity). |
| 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.