BMP8B_HUMAN
ID BMP8B_HUMAN Reviewed; 402 AA.
AC P34820; E7EMY8; Q32NE5; Q53ZM7; Q9NUF0;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 21-MAR-2006, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Bone morphogenetic protein 8B;
DE Short=BMP-8;
DE Short=BMP-8B;
DE AltName: Full=Osteogenic protein 2;
DE Short=OP-2;
DE Flags: Precursor;
GN Name=BMP8B; Synonyms=BMP8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Hippocampus;
RX PubMed=1460021; DOI=10.1016/s0021-9258(19)74028-9;
RA Oezkaynak E., Schnegelsberg P.N.J., Jin D.F., Clifford G.M., Warren F.D.,
RA Drier E.A., Oppermann H.;
RT "Osteogenic protein-2. A new member of the transforming growth factor-beta
RT superfamily expressed early in embryogenesis.";
RL J. Biol. Chem. 267:25220-25227(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Onishi M., Yasunaga T., Tanaka H., Nishimune Y., Nozaki M.;
RT "Evolution of testis specific Scot-t genes encoding succinyl-CoA:3-oxoacid
RT CoA-transferase, functional retroposons generated from somatic tissue-type
RT paralog.";
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ARG-293.
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Induces cartilage and bone formation. May be the
CC osteoinductive factor responsible for the phenomenon of epithelial
CC osteogenesis. Plays a role in calcium regulation and bone homeostasis
CC (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Homodimer; disulfide-linked. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P34820-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P34820-2; Sequence=VSP_056842, VSP_056843;
CC -!- SIMILARITY: Belongs to the TGF-beta family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 8b entry;
CC URL="https://en.wikipedia.org/wiki/Bone_morphogenetic_protein_8b";
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DR EMBL; M97016; AAB01360.1; -; mRNA.
DR EMBL; AY303955; AAP74560.1; -; mRNA.
DR EMBL; AL033527; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL049824; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC108678; AAI08679.1; -; mRNA.
DR CCDS; CCDS444.1; -. [P34820-1]
DR PIR; A45056; A45056.
DR RefSeq; NP_001711.2; NM_001720.4. [P34820-1]
DR AlphaFoldDB; P34820; -.
DR SMR; P34820; -.
DR BioGRID; 107124; 54.
DR IntAct; P34820; 7.
DR MINT; P34820; -.
DR STRING; 9606.ENSP00000361915; -.
DR GlyGen; P34820; 2 sites.
DR iPTMnet; P34820; -.
DR PhosphoSitePlus; P34820; -.
DR BioMuta; BMP8B; -.
DR DMDM; 90110010; -.
DR jPOST; P34820; -.
DR MassIVE; P34820; -.
DR PaxDb; P34820; -.
DR PeptideAtlas; P34820; -.
DR PRIDE; P34820; -.
DR ProteomicsDB; 17042; -.
DR ProteomicsDB; 54944; -. [P34820-1]
DR Antibodypedia; 31953; 301 antibodies from 31 providers.
DR DNASU; 656; -.
DR Ensembl; ENST00000372827.8; ENSP00000361915.3; ENSG00000116985.12. [P34820-1]
DR GeneID; 656; -.
DR KEGG; hsa:656; -.
DR MANE-Select; ENST00000372827.8; ENSP00000361915.3; NM_001720.5; NP_001711.2.
DR UCSC; uc001cdz.2; human. [P34820-1]
DR CTD; 656; -.
DR DisGeNET; 656; -.
DR GeneCards; BMP8B; -.
DR HGNC; HGNC:1075; BMP8B.
DR HPA; ENSG00000116985; Tissue enhanced (brain).
DR MIM; 602284; gene.
DR neXtProt; NX_P34820; -.
DR OpenTargets; ENSG00000116985; -.
DR PharmGKB; PA25385; -.
DR VEuPathDB; HostDB:ENSG00000116985; -.
DR eggNOG; KOG3900; Eukaryota.
DR GeneTree; ENSGT00940000155272; -.
DR HOGENOM; CLU_020515_4_1_1; -.
DR InParanoid; P34820; -.
DR OMA; FRIYKMR; -.
DR OrthoDB; 1063560at2759; -.
DR PhylomeDB; P34820; -.
DR TreeFam; TF316134; -.
DR PathwayCommons; P34820; -.
DR SignaLink; P34820; -.
DR BioGRID-ORCS; 656; 15 hits in 1001 CRISPR screens.
DR ChiTaRS; BMP8B; human.
DR GeneWiki; Bone_morphogenetic_protein_8b; -.
DR GenomeRNAi; 656; -.
DR Pharos; P34820; Tbio.
DR PRO; PR:P34820; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P34820; protein.
DR Bgee; ENSG00000116985; Expressed in tibia and 160 other tissues.
DR Genevisible; P34820; HS.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0070700; F:BMP receptor binding; IBA:GO_Central.
DR GO; GO:0005125; F:cytokine activity; IBA:GO_Central.
DR GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
DR GO; GO:0030509; P:BMP signaling pathway; IBA:GO_Central.
DR GO; GO:0051216; P:cartilage development; IEA:UniProtKB-KW.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0001503; P:ossification; IEA:UniProtKB-KW.
DR GO; GO:0010862; P:positive regulation of pathway-restricted SMAD protein phosphorylation; IBA:GO_Central.
DR GO; GO:0001501; P:skeletal system development; TAS:ProtInc.
DR GO; GO:0060395; P:SMAD protein signal transduction; IBA:GO_Central.
DR Gene3D; 2.10.90.10; -; 1.
DR InterPro; IPR029034; Cystine-knot_cytokine.
DR InterPro; IPR001839; TGF-b_C.
DR InterPro; IPR001111; TGF-b_propeptide.
DR InterPro; IPR015615; TGF-beta-rel.
DR InterPro; IPR017948; TGFb_CS.
DR PANTHER; PTHR11848; PTHR11848; 1.
DR Pfam; PF00019; TGF_beta; 1.
DR Pfam; PF00688; TGFb_propeptide; 1.
DR SMART; SM00204; TGFB; 1.
DR SUPFAM; SSF57501; SSF57501; 1.
DR PROSITE; PS00250; TGF_BETA_1; 1.
DR PROSITE; PS51362; TGF_BETA_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Chondrogenesis; Cytokine; Developmental protein;
KW Differentiation; Disulfide bond; Glycoprotein; Growth factor; Osteogenesis;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT PROPEP 20..263
FT /evidence="ECO:0000255"
FT /id="PRO_0000033882"
FT CHAIN 264..402
FT /note="Bone morphogenetic protein 8B"
FT /id="PRO_0000033883"
FT CARBOHYD 158
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 343
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 301..367
FT /evidence="ECO:0000250"
FT DISULFID 330..399
FT /evidence="ECO:0000250"
FT DISULFID 334..401
FT /evidence="ECO:0000250"
FT DISULFID 366
FT /note="Interchain"
FT /evidence="ECO:0000250"
FT VAR_SEQ 226..253
FT /note="HSVDPGLAGLLGQRAPRSQQPFVVTFFR -> ETWTGWGWTKDSRLQMWKLR
FT LSRTPWVLSLHAPGPAQAPAERPLLCLLQGHCP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056842"
FT VAR_SEQ 317..402
FT /note="DWVIAPQGYSAYYCEGECSFPLDSCMNATNHAILQSLVHLMMPDAVPKACCA
FT PTKLSATSVLYYDSSNNVILRKHRNMVVKACGCH -> VIADSSCF (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056843"
FT VARIANT 293
FT /note="H -> R (in dbSNP:rs17403490)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_014474"
FT CONFLICT 358..360
FT /note="MPD -> KPN (in Ref. 1; AAB01360)"
FT /evidence="ECO:0000305"
FT CONFLICT P34820-2:347
FT /note="S -> P (in Ref. 4; AAI08679)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 402 AA; 44768 MW; AE2330F1547E83A7 CRC64;
MTALPGPLWL LGLALCALGG GGPGLRPPPG CPQRRLGARE RRDVQREILA VLGLPGRPRP
RAPPAASRLP ASAPLFMLDL YHAMAGDDDE DGAPAERRLG RADLVMSFVN MVERDRALGH
QEPHWKEFRF DLTQIPAGEA VTAAEFRIYK VPSIHLLNRT LHVSMFQVVQ EQSNRESDLF
FLDLQTLRAG DEGWLVLDVT AASDCWLLKR HKDLGLRLYV ETEDGHSVDP GLAGLLGQRA
PRSQQPFVVT FFRASPSPIR TPRAVRPLRR RQPKKSNELP QANRLPGIFD DVHGSHGRQV
CRRHELYVSF QDLGWLDWVI APQGYSAYYC EGECSFPLDS CMNATNHAIL QSLVHLMMPD
AVPKACCAPT KLSATSVLYY DSSNNVILRK HRNMVVKACG CH
