BMP6 (bone morphogenetic protein 6)

Gene

• Entrez ID: 654
• Gene name: Bone morphogenetic protein 6
• Gene symbol: BMP6
• Synonyms: IO, VGR, VGR1
• Chromosome: 6
• Chromosome location: 6p24.3
• Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022919	hsa-miR-124-3p	Microarray	18668037
MIRT438480	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT438480	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT736674	hsa-miR-765	Luciferase reporter assay, Western blotting, qRT-PCR	32059748
MIRT822483	hsa-miR-320e	CLIP-seq
MIRT822484	hsa-miR-3591-3p	CLIP-seq
MIRT822485	hsa-miR-4477a	CLIP-seq
MIRT822486	hsa-miR-4729	CLIP-seq
MIRT822487	hsa-miR-944	CLIP-seq
MIRT822485	hsa-miR-4477a	CLIP-seq
MIRT2181837	hsa-miR-3714	CLIP-seq
MIRT2181838	hsa-miR-3919	CLIP-seq
MIRT2181839	hsa-miR-3925-5p	CLIP-seq
MIRT2181840	hsa-miR-4724-5p	CLIP-seq
MIRT2181841	hsa-miR-548m	CLIP-seq
MIRT2181842	hsa-miR-589	CLIP-seq
MIRT2181837	hsa-miR-3714	CLIP-seq
MIRT2485493	hsa-miR-4263	CLIP-seq
MIRT2485494	hsa-miR-4799-5p	CLIP-seq
MIRT2485495	hsa-miR-576-5p	CLIP-seq
MIRT2485493	hsa-miR-4263	CLIP-seq
MIRT2485494	hsa-miR-4799-5p	CLIP-seq
MIRT2485495	hsa-miR-576-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001501	Process	Skeletal system development	TAS	8089189
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001654	Process	Eye development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0003323	Process	Type B pancreatic cell development	IDA	11865031
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0006879	Process	Cellular iron ion homeostasis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IMP	16886151
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	15516325
GO:0010628	Process	Positive regulation of gene expression	IMP	26598555
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	17244894, 19366699
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	ISS
GO:0014823	Process	Response to activity	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IDA	18436533
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0030509	Process	BMP signaling pathway	IDA	18436533
GO:0030509	Process	BMP signaling pathway	IMP	18326817
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030539	Process	Male genitalia development	IEA
GO:0031666	Process	Positive regulation of lipopolysaccharide-mediated signaling pathway	ISS
GO:0031982	Component	Vesicle	IEA
GO:0032026	Process	Response to magnesium ion	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032349	Process	Positive regulation of aldosterone biosynthetic process	IDA	16527843
GO:0032526	Process	Response to retinoic acid	IEA
GO:0043117	Process	Positive regulation of vascular permeability	IDA	26598555
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IDA	18436533
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16527843
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	15516325
GO:0046982	Function	Protein heterodimerization activity	IDA	7811286
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	11865031
GO:0050714	Process	Positive regulation of protein secretion	NAS	15516325
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	26598555
GO:0051216	Process	Cartilage development	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0060395	Process	SMAD protein signal transduction	IDA	17244894
GO:0060395	Process	SMAD protein signal transduction	ISS
GO:0060586	Process	Multicellular organismal iron ion homeostasis	ISS
GO:0070700	Function	BMP receptor binding	IBA	21873635
GO:0070700	Function	BMP receptor binding	IDA	7811286
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071281	Process	Cellular response to iron ion	ISS
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:1903392	Process	Negative regulation of adherens junction organization	IDA	26598555
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IDA	26598555
GO:2000860	Process	Positive regulation of aldosterone secretion	IEA

Other IDs

• MIM: 112266
• HGNC: 1073
• e!Ensembl: ENSG00000153162

Protein

• UniProt ID: P22004
• Protein name: Bone morphogenetic protein 6 (BMP-6) (VG-1-related protein) (VG-1-R) (VGR-1)
• Protein function: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes including cartilage and bone formation (PubMed:31019025). Also plays an important role in the regulation of HAMP/hepcidin expression and iron me
• PDB: 2QCW, 2R52, 2R53, 6OMO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	59 → 362	TGF-beta propeptide	Family
  PF00019	TGF_beta	411 → 512	Transforming growth factor beta like domain	Domain

• Sequence:

  MPGLGRRAQWLCWWWGLLCSCCGPPPLRPPLPAAAAAAAGGQLLGDGGSPGRTEQPPPSP
  QSSSGFLYRRLKTQEKREMQKEILSVLGLPHRPRPLHGLQQPQPPALRQQEEQQQQQQLP
  RGEPPPGRLKSAPLFMLDLYNALSADNDEDGASEGERQQSWPHEAASSSQRRQPPPGAAH
  PLNRKSLLAPGSGSGGASPLTSAQDSAFLNDADMVMSFVNLVEYDKEFSPRQRHHKEFKF
  NLSQIPEGEVVTAAEFRIYKDCVMGSFKNQTFLISIYQVLQEHQHRDSDLFLLDTRVVWA
  SEEGWLEFDITATSNLWVVTPQHNMGLQLSVVTRDGVHVHPRAAGLVGRDGPYDKQPFMV
  AFFKVSEVHVRTTRSASSRRRQQSRNRSTQSQDVARVSSASDYNSSELKTACRKHELYVS
  FQDLGWQDWIIAPKGYAANYCDGECSFPLNAHMNATNHAIVQTLVHLMNPEYVPKPCCAP
  TKLNAISVLYFDDNSNVILKKYRNMVVRACGCH

• Sequence length: 513

Pathways

KEGG:

Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway
Ovarian steroidogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	20008919
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	17374397
Hemochromatosis	Hemochromatosis, Hemochromatosis type 5	rs74315323, rs1422879641, rs80338880, rs80338877, rs80338879, rs80338889, rs104893662, rs28939076, rs104893663, rs104893670, rs878854984, rs104893671, rs104893672, rs104893673, rs104893664, rs387906549, rs80338882, rs80338883, rs80338888, rs80338891, rs80338878, rs387907374, rs387907377, rs786204108, rs1057521155, rs1060501101, rs1060501102, rs773050231, rs1553492997, rs1553493234, rs1553493479, rs1553493481, rs1553494286, rs1553495699, rs1423207026, rs1220336558, rs750609759, rs1051249273, rs946552921, rs1449300685, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs1422733588	19252486, 19252488
Hereditary hemochromatosis	Hereditary hemochromatosis	rs111033563, rs944843686, rs80338877, rs80338882, rs80338888, rs80338891, rs80338878, rs146519482, rs786204108, rs749553271, rs765804978, rs773050231, rs1426704853, rs1554154042, rs1220336558, rs750609759, rs1562838535, rs1051249273, rs1388444100, rs1584460907, rs946552921, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs749211542, rs1422733588, rs1803411479, rs1762684254	19252486, 19252488
Lung carcinoma	Small cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	28604730
Myopia	Myopia, Degenerative	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023	23049088
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	20008919

Unknown
Disease name	Disease term	dbSNP ID	References
Iron overload	Iron Overload	rs1801390, rs1800008, rs1800009, rs147192139, rs148060787, rs149698, rs111326315, rs368356148, rs17854138, rs112199774, rs1801621, rs886048434, rs17156609, rs201120647, rs186448909, rs141071579, rs886048429, rs763318260, rs142482048	26582087
Osteoarthrosis deformans	Osteoarthrosis Deformans		20008919
T-cell lymphoma/leukemia	Adult T-Cell Lymphoma/Leukemia		18688853