BMPR1B2

BMPR1B2 (Bone morphogenetic protein receptor type IB2) adalah gen yang mengkodekan famili reseptor protein morfogenik tulang dari serin transmembrane/treonin kinase. Ikatan ligan reseptor ini adalah BMPs yang merupakan anggota superfamili TGF-β. BMPs terlibat dalam proses embryogenesis dan pembentukan tulang endokondral. Protein ini memberikan sinyalnya melalui pembentukan kompleks heteromerik dari 2 jenis reseptor serin kinase yang berbeda: reseptor tipe I sekitar 50-55 kD dan tipe II sekitar 70-80 kD. Reseptor tipe II membentuk ikatan ligan saat reseptor tipe I tidak ada, tetapi membutuhkan tipe I untuk proses sinyalisasi, sedangkan tipe II membutuhkan tipe I untuk ikatan ligan. Mutasi pada gen ini memiliki hubungan dengan kejadian hipertensi paru.[5][6]

BMPR1B
Struktur yang tersedia PDB Pencarian Ortolog: PDBe RCSB Daftar kode id PDB 3MDY
Pengidentifikasi
Alias	BMPR1B, ALK-6, ALK6, CDw293, AMDD, BDA1D, BDA2, bone morphogenetic protein receptor type 1B, AMD3
ID eksternal	OMIM: 603248 MGI: 107191 HomoloGene: 20322 GeneCards: BMPR1B
Lokasi gen (Manusia) Kr. Kromosom 4 (manusia)[1] Pita 4q22.3 Awal 94,757,955 bp[1] Akhir 95,158,448 bp[1]
Lokasi gen (Tikus) Kr. Kromosom 3 (tikus)[2] Pita 3|3 H1 Awal 141,542,897 bp[2] Akhir 141,875,186 bp[2]
Ontologi gen Fungsi molekuler • transferase activity • nucleotide binding • protein kinase activity • metal ion binding • kinase activity • protein serine/threonine kinase activity • transmembrane receptor protein serine/threonine kinase activity • transforming growth factor beta receptor activity, type I • GO:0001948, GO:0016582 Ikatan protein plasma • SMAD binding • ATP binding • transforming growth factor beta-activated receptor activity • growth factor binding Komponen seluler • komponen integral membran • HFE-transferrin receptor complex • membran • receptor complex • Membran sel • integral component of plasma membrane • neuronal cell body • Dendrit Proses biologis • eye development • positive regulation of extrinsic apoptotic signaling pathway via death domain receptors • skeletal system development • Diferensiasi sel • limb morphogenesis • ovarian cumulus expansion • chondrocyte differentiation • Fosforilasi • positive regulation of bone mineralization • chondrocyte development • cellular response to BMP stimulus • BMP signaling pathway • protein phosphorylation • negative regulation of chondrocyte proliferation • cartilage development • positive regulation of osteoblast differentiation • transmembrane receptor protein serine/threonine kinase signaling pathway • retina development in camera-type eye • positive regulation of cartilage development • positive regulation of chondrocyte differentiation • positive regulation of cell differentiation • ovulation cycle • camera-type eye development • inflammatory response • dorsal/ventral pattern formation • endochondral bone morphogenesis • cartilage condensation • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • proteoglycan biosynthetic process • retinal ganglion cell axon guidance • cellular response to growth factor stimulus • transforming growth factor beta receptor signaling pathway • pattern specification process Sumber:Amigo / QuickGO
Ortolog
Spesies	Manusia	Tikus
Entrez	658	12167
Ensembl	ENSG00000138696	ENSMUSG00000052430
UniProt	O00238	P36898
RefSeq (mRNA)	NM_001203 NM_001256792 NM_001256793 NM_001256794	NM_001277216 NM_001277217 NM_001277218 NM_001277220 NM_007560 NM_001355043
RefSeq (protein)	NP_001194 NP_001243721 NP_001243722 NP_001243723	NP_001264145 NP_001264146 NP_001264147 NP_001264149 NP_031586 NP_001341972
Lokasi (UCSC)	Chr 4: 94.76 – 95.16 Mb	Chr 3: 141.54 – 141.88 Mb
Pencarian PubMed	[3]	[4]
Wikidata
Lihat/Sunting Manusia Lihat/Sunting Tikus