Tag | Content |
---|---|
Uniprot ID | P27037; B2RAB8; B4DWQ2; D3DP85; Q53TH4; Q6NWV2; Q92474; |
Entrez ID | 92 |
Genbank protein ID | BAA06548.1; AAA35504.1; EAX11562.1; AAH67418.1; BAG63114.1; CAA44839.1; AAH67417.1; AAX93050.1; BAG36815.1; EAX11561.1; AAH69707.1; CAA44245.1; |
Genbank nucleotide ID | NM_001278579.1; NM_001616.4; NM_001278580.1; |
Ensembl protein ID | ENSP00000241416; ENSP00000384338; ENSP00000439988; |
Ensembl nucleotide ID | ENSG00000121989 |
Gene name | Activin receptor type-2A |
Gene symbol | ACVR2A |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity). |
Sequence | MGAAAKLAFA VFLISCSSGA ILGRSETQEC LFFNANWEKD RTNQTGVEPC YGDKDKRRHC 60 FATWKNISGS IEIVKQGCWL DDINCYDRTD CVEKKDSPEV YFCCCEGNMC NEKFSYFPEM 120 EVTQPTSNPV TPKPPYYNIL LYSLVPLMLI AGIVICAFWV YRHHKMAYPP VLVPTQDPGP 180 PPPSPLLGLK PLQLLEVKAR GRFGCVWKAQ LLNEYVAVKI FPIQDKQSWQ NEYEVYSLPG 240 MKHENILQFI GAEKRGTSVD VDLWLITAFH EKGSLSDFLK ANVVSWNELC HIAETMARGL 300 AYLHEDIPGL KDGHKPAISH RDIKSKNVLL KNNLTACIAD FGLALKFEAG KSAGDTHGQV 360 GTRRYMAPEV LEGAINFQRD AFLRIDMYAM GLVLWELASR CTAADGPVDE YMLPFEEEIG 420 QHPSLEDMQE VVVHKKKRPV LRDYWQKHAG MAMLCETIEE CWDHDAEARL SAGCVGERIT 480 QMQRLTNIIT TEDIVTVVTM VTNVDFPPKE SSL 513 |
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.