KEGG   Homo sapiens (human): 657
Entry
657               CDS       T01001                                 

Gene name
BMPR1A, 10q23del, ACVRLK3, ALK3, CD292, SKR5
Definition
(RefSeq) bone morphogenetic protein receptor type 1A
  KO
K04673  bone morphogenetic protein receptor type-1A [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Disease
H01023  Juvenile polyposis syndrome
H01024  Hereditary mixed polyposis syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    657 (BMPR1A)
   04390 Hippo signaling pathway
    657 (BMPR1A)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    657 (BMPR1A)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    657 (BMPR1A)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    657 (BMPR1A)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    657 (BMPR1A)
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    657 (BMPR1A)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     657 (BMPR1A)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   657 (BMPR1A)
CD molecules [BR:hsa04090]
 Proteins
  657 (BMPR1A)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr Pkinase TGF_beta_GS Activin_recp Pkinase_fungal FTA2 APH
Other DBs
NCBI-GeneID: 657
NCBI-ProteinID: NP_004320
OMIM: 601299
HGNC: 1076
Ensembl: ENSG00000107779
Vega: OTTHUMG00000018657
Pharos: P36894(Tchem)
UniProt: P36894
LinkDB
Structure
PDB: 

Position
10q23.2
AA seq 532 aa
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLK
CYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRR
TIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYC
KSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTG
SWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAH
RDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKN
HFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI
NT seq 1599 nt   +upstreamnt  +downstreamnt
atgcctcagctatacatttacatcagattattgggagcctatttgttcatcatttctcgt
gttcaaggacagaatctggatagtatgcttcatggcactgggatgaaatcagactccgac
cagaaaaagtcagaaaatggagtaaccttagcaccagaggataccttgccttttttaaag
tgctattgctcagggcactgtccagatgatgctattaataacacatgcataactaatgga
cattgctttgccatcatagaagaagatgaccagggagaaaccacattagcttcagggtgt
atgaaatatgaaggatctgattttcagtgcaaagattctccaaaagcccagctacgccgg
acaatagaatgttgtcggaccaatttatgtaaccagtatttgcaacccacactgccccct
gttgtcataggtccgttttttgatggcagcattcgatggctggttttgctcatttctatg
gctgtctgcataattgctatgatcatcttctccagctgcttttgttacaaacattattgc
aagagcatctcaagcagacgtcgttacaatcgtgatttggaacaggatgaagcatttatt
ccagttggagaatcactaaaagaccttattgaccagtcacaaagttctggtagtgggtct
ggactacctttattggttcagcgaactattgccaaacagattcagatggtccggcaagtt
ggtaaaggccgatatggagaagtatggatgggcaaatggcgtggcgaaaaagtggcggtg
aaagtattctttaccactgaagaagccagctggtttcgagaaacagaaatctaccaaact
gtgctaatgcgccatgaaaacatacttggtttcatagcggcagacattaaaggtacaggt
tcctggactcagctctatttgattactgattaccatgaaaatggatctctctatgacttc
ctgaaatgtgctacactggacaccagagccctgcttaaattggcttattcagctgcctgt
ggtctgtgccacctgcacacagaaatttatggcacccaaggaaagcccgcaattgctcat
cgagacctaaagagcaaaaacatcctcatcaagaaaaatgggagttgctgcattgctgac
ctgggccttgctgttaaattcaacagtgacacaaatgaagttgatgtgcccttgaatacc
agggtgggcaccaaacgctacatggctcccgaagtgctggacgaaagcctgaacaaaaac
cacttccagccctacatcatggctgacatctacagcttcggcctaatcatttgggagatg
gctcgtcgttgtatcacaggagggatcgtggaagaataccaattgccatattacaacatg
gtaccgagtgatccgtcatacgaagatatgcgtgaggttgtgtgtgtcaaacgtttgcgg
ccaattgtgtctaatcggtggaacagtgatgaatgtctacgagcagttttgaagctaatg
tcagaatgctgggcccacaatccagcctccagactcacagcattgagaattaagaagacg
cttgccaagatggttgaatcccaagatgtaaaaatctga

KEGG   Homo sapiens (human): 658
Entry
658               CDS       T01001                                 

Gene name
BMPR1B, ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293
Definition
(RefSeq) bone morphogenetic protein receptor type 1B
  KO
K13578  bone morphogenetic protein receptor type-1B [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04360  Axon guidance
hsa04390  Hippo signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Disease
H00468  Acromesomelic dysplasia, Demirhan type
H00482  Brachydactyly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    658 (BMPR1B)
   04390 Hippo signaling pathway
    658 (BMPR1B)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    658 (BMPR1B)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    658 (BMPR1B)
 09150 Organismal Systems
  09158 Development and regeneration
   04360 Axon guidance
    658 (BMPR1B)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    658 (BMPR1B)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    658 (BMPR1B)
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    658 (BMPR1B)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     658 (BMPR1B)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   658 (BMPR1B)
CD molecules [BR:hsa04090]
 Proteins
  658 (BMPR1B)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr Pkinase TGF_beta_GS Activin_recp FTA2
Other DBs
NCBI-GeneID: 658
NCBI-ProteinID: NP_001194
OMIM: 603248
HGNC: 1077
Ensembl: ENSG00000138696
Vega: OTTHUMG00000130991
Pharos: O00238(Tbio)
UniProt: O00238
LinkDB
Structure
PDB: 
3MDY

Position
4q22.3
AA seq 502 aa
MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEED
DSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVD
GPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLI
EQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEAS
WFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS
MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISD
TNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV
EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPAS
RLTALRVKKTLAKMSESQDIKL
NT seq 1509 nt   +upstreamnt  +downstreamnt
atgcttttgcgaagtgcaggaaaattaaatgtgggcaccaagaaagaggatggtgagagt
acagcccccaccccccgtccaaaggtcttgcgttgtaaatgccaccaccattgtccagaa
gactcagtcaacaatatttgcagcacagacggatattgtttcacgatgatagaagaggat
gactctgggttgcctgtggtcacttctggttgcctaggactagaaggctcagattttcag
tgtcgggacactcccattcctcatcaaagaagatcaattgaatgctgcacagaaaggaac
gaatgtaataaagacctacaccctacactgcctccattgaaaaacagagattttgttgat
ggacctatacaccacagggctttacttatatctgtgactgtctgtagtttgctcttggtc
cttatcatattattttgttacttccggtataaaagacaagaaaccagacctcgatacagc
attgggttagaacaggatgaaacttacattcctcctggagaatccctgagagacttaatt
gagcagtctcagagctcaggaagtggatcaggcctccctctgctggtccaaaggactata
gctaagcagattcagatggtgaaacagattggaaaaggtcgctatggggaagtttggatg
ggaaagtggcgtggcgaaaaggtagctgtgaaagtgttcttcaccacagaggaagccagc
tggttcagagagacagaaatatatcagacagtgttgatgaggcatgaaaacattttgggt
ttcattgctgcagatatcaaagggacagggtcctggacccagttgtacctaatcacagac
tatcatgaaaatggttccctttatgattatctgaagtccaccaccctagacgctaaatca
atgctgaagttagcctactcttctgtcagtggcttatgtcatttacacacagaaatcttt
agtactcaaggcaaaccagcaattgcccatcgagatctgaaaagtaaaaacattctggtg
aagaaaaatggaacttgctgtattgctgacctgggcctggctgttaaatttattagtgat
acaaatgaagttgacataccacctaacactcgagttggcaccaaacgctatatgcctcca
gaagtgttggacgagagcttgaacagaaatcacttccagtcttacatcatggctgacatg
tatagttttggcctcatcctttgggaggttgctaggagatgtgtatcaggaggtatagtg
gaagaataccagcttccttatcatgacctagtgcccagtgacccctcttatgaggacatg
agggagattgtgtgcatcaagaagttacgcccctcattcccaaaccggtggagcagtgat
gagtgtctaaggcagatgggaaaactcatgacagaatgctgggctcacaatcctgcatca
aggctgacagccctgcgggttaagaaaacacttgccaaaatgtcagagtcccaggacatt
aaactctga

KEGG   Homo sapiens (human): 659
Entry
659               CDS       T01001                                 

Gene name
BMPR2, BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK
Definition
(RefSeq) bone morphogenetic protein receptor type 2
  KO
K04671  bone morphogenetic protein receptor type-2 [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04360  Axon guidance
hsa04390  Hippo signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05206  MicroRNAs in cancer
hsa05418  Fluid shear stress and atherosclerosis
Disease
H01619  Primary pulmonary hypertension
H01621  Pulmonary arterial hypertension
H01866  Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
Drug target
Dibotermin alfa: D03779
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    659 (BMPR2)
   04390 Hippo signaling pathway
    659 (BMPR2)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    659 (BMPR2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    659 (BMPR2)
 09150 Organismal Systems
  09158 Development and regeneration
   04360 Axon guidance
    659 (BMPR2)
 09160 Human Diseases
  09161 Cancer: overview
   05206 MicroRNAs in cancer
    659 (BMPR2)
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    659 (BMPR2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    659 (BMPR2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     659 (BMPR2)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR2 family [OT]
   659 (BMPR2)
SSDB
Motif
Pfam: Pkinase PK_Tyr_Ser-Thr Activin_recp APH Cadherin_C_2
Other DBs
NCBI-GeneID: 659
NCBI-ProteinID: NP_001195
OMIM: 600799
HGNC: 1078
Ensembl: ENSG00000204217
Vega: OTTHUMG00000133617
Pharos: Q13873(Tchem)
UniProt: Q13873
LinkDB
Structure
PDB: 
3G2F

Position
2q33.1-q33.2
AA seq 1038 aa
MTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILC
SKGSTCYGLWEKSKGDINLVKQGCWSHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCST
DLCNVNFTENFPPPDTTPLSPPHSFNRDETIIIALASVSVLAVLIVALCFGYRMLTGDRK
QGLHSMNMMEAAASEPSLDLDNLKLLELIGRGRYGAVYKGSLDERPVAVKVFSFANRQNF
INEKNIYRVPLMEHDNIARFIVGDERVTADGRMEYLLVMEYYPNGSLCKYLSLHTSDWVS
SCRLAHSVTRGLAYLHTELPRGDHYKPAISHRDLNSRNVLVKNDGTCVISDFGLSMRLTG
NRLVRPGEEDNAAISEVGTIRYMAPEVLEGAVNLRDCESALKQVDMYALGLIYWEIFMRC
TDLFPGESVPEYQMAFQTEVGNHPTFEDMQVLVSREKQRPKFPEAWKENSLAVRSLKETI
EDCWDQDAEARLTAQCAEERMAELMMIWERNKSVSPTVNPMSTAMQNERNLSHNRRVPKI
GPYPDYSSSSYIEDSIHHTDSIVKNISSEHSMSSTPLTIGEKNRNSINYERQQAQARIPS
PETSVTSLSTNTTTTNTTGLTPSTGMTTISEMPYPDETNLHTTNVAQSIGPTPVCLQLTE
EDLETNKLDPKEVDKNLKESSDENLMEHSLKQFSGPDPLSSTSSSLLYPLIKLAVEATGQ
QDFTQTANGQACLIPDVLPTQIYPLPKQQNLPKRPTSLPLNTKNSTKEPRLKFGSKHKSN
LKQVETGVAKMNTINAAEPHVVTVTMNGVAGRNHSVNSHAATTQYANGTVLSGQTTNIVT
HRAQEMLQNQFIGEDTRLNINSSPDEHEPLLRREQQAGHDEGVLDRLVDRRERPLEGGRT
NSNNNNSNPCSEQDVLAQGVPSTAADPGPSKPRRAQRPNSLDLSATNVLDGSSIQIGEST
QDGKSGSGEKIKKRVKTPYSLKRWRPSTWVISTESLDCEVNNNGSNRAVHSKSSTAVYLA
EGGTATTMVSKDIGMNCL
NT seq 3117 nt   +upstreamnt  +downstreamnt
atgacttcctcgctgcagcggccctggcgggtgccctggctaccatggaccatcctgctg
gtcagcactgcggctgcttcgcagaatcaagaacggctatgtgcgtttaaagatccgtat
cagcaagaccttgggataggtgagagtagaatctctcatgaaaatgggacaatattatgc
tcgaaaggtagcacctgctatggcctttgggagaaatcaaaaggggacataaatcttgta
aaacaaggatgttggtctcacattggagatccccaagagtgtcactatgaagaatgtgta
gtaactaccactcctccctcaattcagaatggaacataccgtttctgctgttgtagcaca
gatttatgtaatgtcaactttactgagaattttccacctcctgacacaacaccactcagt
ccacctcattcatttaaccgagatgagacaataatcattgctttggcatcagtctctgta
ttagctgttttgatagttgccttatgctttggatacagaatgttgacaggagaccgtaaa
caaggtcttcacagtatgaacatgatggaggcagcagcatccgaaccctctcttgatcta
gataatctgaaactgttggagctgattggccgaggtcgatatggagcagtatataaaggc
tccttggatgagcgtccagttgctgtaaaagtgttttcctttgcaaaccgtcagaatttt
atcaacgaaaagaacatttacagagtgcctttgatggaacatgacaacattgcccgcttt
atagttggagatgagagagtcactgcagatggacgcatggaatatttgcttgtgatggag
tactatcccaatggatctttatgcaagtatttaagtctccacacaagtgactgggtaagc
tcttgccgtcttgctcattctgttactagaggactggcttatcttcacacagaattacca
cgaggagatcattataaacctgcaatttcccatcgagatttaaacagcagaaatgtccta
gtgaaaaatgatggaacctgtgttattagtgactttggactgtccatgaggctgactgga
aatagactggtgcgcccaggggaggaagataatgcagccataagcgaggttggcactatc
agatatatggcaccagaagtgctagaaggagctgtgaacttgagggactgtgaatcagct
ttgaaacaagtagacatgtatgctcttggactaatctattgggagatatttatgagatgt
acagacctcttcccaggggaatccgtaccagagtaccagatggcttttcagacagaggtt
ggaaaccatcccacttttgaggatatgcaggttctcgtgtctagggaaaaacagagaccc
aagttcccagaagcctggaaagaaaatagcctggcagtgaggtcactcaaggagacaatc
gaagactgttgggaccaggatgcagaggctcggcttactgcacagtgtgctgaggaaagg
atggctgaacttatgatgatttgggaaagaaacaaatctgtgagcccaacagtcaatcca
atgtctactgctatgcagaatgaacgcaacctgtcacataataggcgtgtgccaaaaatt
ggtccttatccagattattcttcctcctcatacattgaagactctatccatcatactgac
agcatcgtgaagaatatttcctctgagcattctatgtccagcacacctttgactataggg
gaaaaaaaccgaaattcaattaactatgaacgacagcaagcacaagctcgaatccccagc
cctgaaacaagtgtcaccagcctctccaccaacacaacaaccacaaacaccacaggactc
acgccaagtactggcatgactactatatctgagatgccatacccagatgaaacaaatctg
cataccacaaatgttgcacagtcaattgggccaacccctgtctgcttacagctgacagaa
gaagacttggaaaccaacaagctagacccaaaagaagttgataagaacctcaaggaaagc
tctgatgagaatctcatggagcactctcttaaacagttcagtggcccagacccactgagc
agtactagttctagcttgctttacccactcataaaacttgcagtagaagcaactggacag
caggacttcacacagactgcaaatggccaagcatgtttgattcctgatgttctgcctact
cagatctatcctctccccaagcagcagaaccttcccaagagacctactagtttgcctttg
aacaccaaaaattcaacaaaagagccccggctaaaatttggcagcaagcacaaatcaaac
ttgaaacaagtcgaaactggagttgccaagatgaatacaatcaatgcagcagaacctcat
gtggtgacagtcaccatgaatggtgtggcaggtagaaaccacagtgttaactcccatgct
gccacaacccaatatgccaatgggacagtactatctggccaaacaaccaacatagtgaca
catagggcccaagaaatgttgcagaatcagtttattggtgaggacacccggctgaatatt
aattccagtcctgatgagcatgagcctttactgagacgagagcaacaagctggccatgat
gaaggtgttctggatcgtcttgtggacaggagggaacggccactagaaggtggccgaact
aattccaataacaacaacagcaatccatgttcagaacaagatgttcttgcacagggtgtt
ccaagcacagcagcagatcctgggccatcaaagcccagaagagcacagaggcctaattct
ctggatctttcagccacaaatgtcctggatggcagcagtatacagataggtgagtcaaca
caagatggcaaatcaggatcaggtgaaaagatcaagaaacgtgtgaaaactccctattct
cttaagcggtggcgcccctccacctgggtcatctccactgaatcgctggactgtgaagtc
aacaataatggcagtaacagggcagttcattccaaatccagcactgctgtttaccttgca
gaaggaggcactgctacaaccatggtgtctaaagatataggaatgaactgtctgtga

KEGG   Homo sapiens (human): 90
Entry
90                CDS       T01001                                 

Gene name
ACVR1, ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
Definition
(RefSeq) activin A receptor type 1
  KO
K04675  activin receptor type-1 [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Disease
H00430  Fibrodysplasia ossificans progressiva
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    90 (ACVR1)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    90 (ACVR1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    90 (ACVR1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    90 (ACVR1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    90 (ACVR1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     90 (ACVR1)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   90 (ACVR1)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr Pkinase TGF_beta_GS Activin_recp APH FTA2
Other DBs
NCBI-GeneID: 90
NCBI-ProteinID: NP_001096
OMIM: 102576
HGNC: 171
Ensembl: ENSG00000115170
Vega: OTTHUMG00000131967
Pharos: Q04771(Tchem)
UniProt: Q04771 D3DPA4
LinkDB
Structure
PDB: 

Position
2q24.1
AA seq 509 aa
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSIN
DGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNF
HLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTL
ADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTL
DTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVM
HSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVS
NGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC
NT seq 1530 nt   +upstreamnt  +downstreamnt
atggtagatggagtgatgattcttcctgtgcttatcatgattgctctcccctcccctagt
atggaagatgagaagcccaaggtcaaccccaaactctacatgtgtgtgtgtgaaggtctc
tcctgcggtaatgaggaccactgtgaaggccagcagtgcttttcctcactgagcatcaac
gatggcttccacgtctaccagaaaggctgcttccaggtttatgagcagggaaagatgacc
tgtaagaccccgccgtcccctggccaagccgtggagtgctgccaaggggactggtgtaac
aggaacatcacggcccagctgcccactaaaggaaaatccttccctggaacacagaatttc
cacttggaggttggcctcattattctctctgtagtgttcgcagtatgtcttttagcctgc
ctgctgggagttgctctccgaaaatttaaaaggcgcaaccaagaacgcctcaatccccga
gacgtggagtatggcactatcgaagggctcatcaccaccaatgttggagacagcacttta
gcagatttattggatcattcgtgtacatcaggaagtggctctggtcttccttttctggta
caaagaacagtggctcgccagattacactgttggagtgtgtcgggaaaggcaggtatggt
gaggtgtggaggggcagctggcaaggggagaatgttgccgtgaagatcttctcctcccgt
gatgagaagtcatggttcagggaaacggaattgtacaacactgtgatgctgaggcatgaa
aatatcttaggtttcattgcttcagacatgacatcaagacactccagtacccagctgtgg
ttaattacacattatcatgaaatgggatcgttgtacgactatcttcagcttactactctg
gatacagttagctgccttcgaatagtgctgtccatagctagtggtcttgcacatttgcac
atagagatatttgggacccaagggaaaccagccattgcccatcgagatttaaagagcaaa
aatattctggttaagaagaatggacagtgttgcatagcagatttgggcctggcagtcatg
cattcccagagcaccaatcagcttgatgtggggaacaatccccgtgtgggcaccaagcgc
tacatggcccccgaagttctagatgaaaccatccaggtggattgtttcgattcttataaa
agggtcgatatttgggcctttggacttgttttgtgggaagtggccaggcggatggtgagc
aatggtatagtggaggattacaagccaccgttctacgatgtggttcccaatgacccaagt
tttgaagatatgaggaaggtagtctgtgtggatcaacaaaggccaaacatacccaacaga
tggttctcagacccgacattaacctctctggccaagctaatgaaagaatgctggtatcaa
aatccatccgcaagactcacagcactgcgtatcaaaaagactttgaccaaaattgataat
tccctcgacaaattgaaaactgactgttga

KEGG   Homo sapiens (human): 92
Entry
92                CDS       T01001                                 

Gene name
ACVR2A, ACTRII, ACVR2
Definition
(RefSeq) activin A receptor type 2A
  KO
K04670  activin receptor type-2A [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Drug target
Bimagrumab: D10620
Sotatercept: D09670
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    92 (ACVR2A)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    92 (ACVR2A)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    92 (ACVR2A)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    92 (ACVR2A)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    92 (ACVR2A)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     92 (ACVR2A)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR2 family [OT]
   92 (ACVR2A)
SSDB
Motif
Pfam: Pkinase PK_Tyr_Ser-Thr Activin_recp Pkinase_fungal APH Dynein_IC2
Other DBs
NCBI-GeneID: 92
NCBI-ProteinID: NP_001265508
OMIM: 102581
HGNC: 173
Ensembl: ENSG00000121989
Vega: OTTHUMG00000150603
Pharos: P27037(Tbio)
UniProt: P27037
LinkDB
Structure
PDB: 
3SOC 3Q4T 4ASX 5NH3

Position
2q22.3-q23.1
AA seq 513 aa
MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHC
FATWKNISGSIEIVKQGCWLDDINCYDRTDCVEKKDSPEVYFCCCEGNMCNEKFSYFPEM
EVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGP
PPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPG
MKHENILQFIGAEKRGTSVDVDLWLITAFHEKGSLSDFLKANVVSWNELCHIAETMARGL
AYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQV
GTRRYMAPEVLEGAINFQRDAFLRIDMYAMGLVLWELASRCTAADGPVDEYMLPFEEEIG
QHPSLEDMQEVVVHKKKRPVLRDYWQKHAGMAMLCETIEECWDHDAEARLSAGCVGERIT
QMQRLTNIITTEDIVTVVTMVTNVDFPPKESSL
NT seq 1542 nt   +upstreamnt  +downstreamnt
atgggagctgctgcaaagttggcgtttgccgtctttcttatctcctgttcttcaggtgct
atacttggtagatcagaaactcaggagtgtcttttctttaatgctaattgggaaaaagac
agaaccaatcaaactggtgttgaaccgtgttatggtgacaaagataaacggcggcattgt
tttgctacctggaagaatatttctggttccattgaaatagtgaaacaaggttgttggctg
gatgatatcaactgctatgacaggactgattgtgtagaaaaaaaagacagccctgaagta
tatttttgttgctgtgagggcaatatgtgtaatgaaaagttttcttattttccggagatg
gaagtcacacagcccacttcaaatccagttacacctaagccaccctattacaacatcctg
ctctattccttggtgccacttatgttaattgcggggattgtcatttgtgcattttgggtg
tacaggcatcacaagatggcctaccctcctgtacttgttccaactcaagacccaggacca
cccccaccttctccattactaggtttgaaaccactgcagttattagaagtgaaagcaagg
ggaagatttggttgtgtctggaaagcccagttgcttaacgaatatgtggctgtcaaaata
tttccaatacaggacaaacagtcatggcaaaatgaatacgaagtctacagtttgcctgga
atgaagcatgagaacatattacagttcattggtgcagaaaaacgaggcaccagtgttgat
gtggatctttggctgatcacagcatttcatgaaaagggttcactatcagactttcttaag
gctaatgtggtctcttggaatgaactgtgtcatattgcagaaaccatggctagaggattg
gcatatttacatgaggatatacctggcctaaaagatggccacaaacctgccatatctcac
agggacatcaaaagtaaaaatgtgctgttgaaaaacaacctgacagcttgcattgctgac
tttgggttggccttaaaatttgaggctggcaagtctgcaggcgatacccatggacaggtt
ggtacccggaggtacatggctccagaggtattagagggtgctataaacttccaaagggat
gcatttttgaggatagatatgtatgccatgggattagtcctatgggaactggcttctcgc
tgtactgctgcagatggacctgtagatgaatacatgttgccatttgaggaggaaattggc
cagcatccatctcttgaagacatgcaggaagttgttgtgcataaaaaaaagaggcctgtt
ttaagagattattggcagaaacatgctggaatggcaatgctctgtgaaaccattgaagaa
tgttgggatcacgacgcagaagccaggttatcagctggatgtgtaggtgaaagaattacc
cagatgcagagactaacaaatattattaccacagaggacattgtaacagtggtcacaatg
gtgacaaatgttgactttcctcccaaagaatctagtctatga

KEGG   Homo sapiens (human): 93
Entry
93                CDS       T01001                                 

Gene name
ACVR2B, ACTRIIB, ActR-IIB, HTX4
Definition
(RefSeq) activin A receptor type 2B
  KO
K13596  activin receptor type-2B [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Disease
H00632  Heterotaxy
Drug target
Bimagrumab: D10620
Luspatercept: D11701<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    93 (ACVR2B)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    93 (ACVR2B)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    93 (ACVR2B)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    93 (ACVR2B)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    93 (ACVR2B)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     93 (ACVR2B)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR2 family [OT]
   93 (ACVR2B)
SSDB
Motif
Pfam: Pkinase PK_Tyr_Ser-Thr Activin_recp Pkinase_fungal
Other DBs
NCBI-GeneID: 93
NCBI-ProteinID: NP_001097
OMIM: 602730
HGNC: 174
Ensembl: ENSG00000114739
Vega: OTTHUMG00000131291
Pharos: Q13705(Tchem)
UniProt: Q13705
LinkDB
Structure
PDB: 
2H62 5NGV 2QLU 5NHR 4FAO

Position
3p22.2
AA seq 512 aa
MTAPWVALALLWGSLCAGSGRGEAETRECIYYNANWELERTNQSGLERCEGEQDKRLHCY
ASWRNSSGTIELVKKGCWLDDFNCYDRQECVATEENPQVYFCCCEGNFCNERFTHLPEAG
GPEVTYEPPPTAPTLLTVLAYSLLPIGGLSLIVLLAFWMYRHRKPPYGHVDIHEDPGPPP
PSPLVGLKPLQLLEIKARGRFGCVWKAQLMNDFVAVKIFPLQDKQSWQSEREIFSTPGMK
HENLLQFIAAEKRGSNLEVELWLITAFHDKGSLTDYLKGNIITWNELCHVAETMSRGLSY
LHEDVPWCRGEGHKPSIAHRDFKSKNVLLKSDLTAVLADFGLAVRFEPGKPPGDTHGQVG
TRRYMAPEVLEGAINFQRDAFLRIDMYAMGLVLWELVSRCKAADGPVDEYMLPFEEEIGQ
HPSLEELQEVVVHKKMRPTIKDHWLKHPGLAQLCVTIEECWDHDAEARLSAGCVEERVSL
IRRSVNGTTSDCLVSLVTSVTNVDLPPKESSI
NT seq 1539 nt   +upstreamnt  +downstreamnt
atgacggcgccctgggtggccctcgccctcctctggggatcgctgtgcgccggctctggg
cgtggggaggctgagacacgggagtgcatctactacaacgccaactgggagctggagcgc
accaaccagagcggcctggagcgctgcgaaggcgagcaggacaagcggctgcactgctac
gcctcctggcgcaacagctctggcaccatcgagctcgtgaagaagggctgctggctagat
gacttcaactgctacgataggcaggagtgtgtggccactgaggagaacccccaggtgtac
ttctgctgctgtgaaggcaacttctgcaacgaacgcttcactcatttgccagaggctggg
ggcccggaagtcacgtacgagccacccccgacagcccccaccctgctcacggtgctggcc
tactcactgctgcccatcgggggcctttccctcatcgtcctgctggccttttggatgtac
cggcatcgcaagcccccctacggtcatgtggacatccatgaggaccctgggcctccacca
ccatcccctctggtgggcctgaagccactgcagctgctggagatcaaggctcgggggcgc
tttggctgtgtctggaaggcccagctcatgaatgactttgtagctgtcaagatcttccca
ctccaggacaagcagtcgtggcagagtgaacgggagatcttcagcacacctggcatgaag
cacgagaacctgctacagttcattgctgccgagaagcgaggctccaacctcgaagtagag
ctgtggctcatcacggccttccatgacaagggctccctcacggattacctcaaggggaac
atcatcacatggaacgaactgtgtcatgtagcagagacgatgtcacgaggcctctcatac
ctgcatgaggatgtgccctggtgccgtggcgagggccacaagccgtctattgcccacagg
gactttaaaagtaagaatgtattgctgaagagcgacctcacagccgtgctggctgacttt
ggcttggctgttcgatttgagccagggaaacctccaggggacacccacggacaggtaggc
acgagacggtacatggctcctgaggtgctcgagggagccatcaacttccagagagatgcc
ttcctgcgcattgacatgtatgccatggggttggtgctgtgggagcttgtgtctcgctgc
aaggctgcagacggacccgtggatgagtacatgctgccctttgaggaagagattggccag
cacccttcgttggaggagctgcaggaggtggtggtgcacaagaagatgaggcccaccatt
aaagatcactggttgaaacacccgggcctggcccagctttgtgtgaccatcgaggagtgc
tgggaccatgatgcagaggctcgcttgtccgcgggctgtgtggaggagcgggtgtccctg
attcggaggtcggtcaacggcactacctcggactgtctcgtttccctggtgacctctgtc
accaatgtggacctgccccctaaagagtcaagcatctaa

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