BMPR1B2 📖 Wikipedia

BMPR1B2
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; OMA:BMPR1B - orthologs
Lokasi gen (Manusia) Kr. Kromosom 4 (manusia)[1] Pita 4q22.3 Awal 94,757,955 pb[1] Akhir 95,158,448 pb[1]
Pola ekspresi RNA Bgee Manusia Tikus (ortologi) Ekspresi tertinggi di Tendon Achilles bronchial epithelial cell tail of epididymis Testis buccal mucosa cell Vesikula seminalis entorhinal cortex renal medulla trigeminal ganglion right uterine tube Ekspresi tertinggi di cumulus cell primary oocyte secondary oocyte optic stalk Zigot lumbar subsegment of spinal cord prostat vestibular sensory epithelium stria vascularis lobe of prostate Referensi data ekspresi selengkapnya BioGPS n/a
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 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 soma Dendrit Proses biologis eye development positive regulation of extrinsic apoptotic signaling pathway via death domain receptors Sistem rangka 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 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
Ortologi 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 Location (UCSC) Chr 4: 94.76 – 95.16 Mb n/a PubMed search [2] [3]
Wikidata
Lihat/Sunting Manusia Lihat/Sunting Tikus

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.^[4][5]

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000138696 – Ensembl, May 2017
2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "BMPR1B Gene - GeneCards | BMR1B Protein | BMR1B Antibody". www.genecards.org. Diakses tanggal 2020-03-09.
5. ^ Reference, Genetics Home. "BMPR1B gene". Genetics Home Reference (dalam bahasa Inggris). Diakses tanggal 2020-03-09.

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