Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	654
Gene name	Bone morphogenetic protein 6
Gene symbol	BMP6
Synonyms (NCBI Gene)	IOVGRVGR1
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

Show/Hide all (23)

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 assayWestern blottingqRT-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

Show/Hide all (81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001501	Process	Skeletal system development	TAS	8089189
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
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
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	30097509, 31800957
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	26582087
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IMP	16886151
GO:0007507	Process	Heart development	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	15516325
GO:0009888	Process	Tissue development	IEA
GO:0010039	Process	Response to iron ion	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	26598555
GO:0014823	Process	Response to activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IDA	18436533
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	18436533, 26598555
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	18326817
GO:0030539	Process	Male genitalia development	IEA
GO:0031666	Process	Positive regulation of lipopolysaccharide-mediated signaling pathway	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:0042127	Process	Regulation of cell population proliferation	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:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16527843
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
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:0048468	Process	Cell development	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	11865031
GO:0050714	Process	Positive regulation of protein secretion	NAS	15516325
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060348	Process	Bone development	IDA	16798745
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	19366699
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	26582087, 28335084, 32464486
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	ISS
GO:0070700	Function	BMP receptor binding	IDA	7811286
GO:0070700	Function	BMP receptor binding	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071281	Process	Cellular response to iron ion	IEA
GO:0071281	Process	Cellular response to iron ion	ISS
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0150005	Component	Enzyme activator complex	IDA	31800957
GO:1902533	Process	Positive regulation of intracellular signal transduction	IDA	26598555
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

MIM	HGNC	e!Ensembl
112266	1073	ENSG00000153162

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

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Premature ovarian failure	Likely pathogenic	rs747427445	RCV001270201

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BMP6-related disorder	Likely benign; Benign	rs200573175, rs7745236, rs199789965, rs17557, rs61733611, rs537332654, rs17558, rs1357401665, rs1581297817, rs111588693, rs767601109, rs61733612, rs144129356, rs533077681, rs755810484 View all (7 more)	RCV004758231 RCV003961052 RCV003929660 RCV003979854 RCV003914186 RCV003917028 RCV003973864 RCV003977160 RCV003977191 RCV003967338 RCV003941797 RCV003961604 RCV003963888 RCV003962089 RCV003931758 RCV003961494 RCV003922015 RCV003964302 RCV003979140 RCV003962025 RCV003976677 RCV003928496
Iron overload, susceptibility to	Likely benign; Benign; risk factor	rs199518216, rs200573175, rs7745236, rs201486498, rs1761754747, rs148916269	RCV002462811 RCV002462812 RCV002462813 RCV002462814 RCV002462815 RCV002462816
Neonatal hemochromatosis	Uncertain significance; Conflicting classifications of pathogenicity	rs1210132825, rs143007713	RCV003326056 RCV003326058

Show/Hide Text Mining Associations (85)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	1280991, 9820184
Adenocarcinoma of Lung	Inhibit	34036102
Adenoma Pleomorphic	Associate	11986346
Anemia	Associate	32153255
Anemia Sickle Cell	Associate	24263212
Arthritis Psoriatic	Associate	14558086
Arthritis Rheumatoid	Associate	14558086, 26215036
Attention Deficit Disorder with Hyperactivity	Associate	19694819
beta Thalassemia	Associate	31276102
Bone Diseases	Associate	21605425, 23775772, 23927997
Breast Neoplasms	Associate	17997862, 20401668, 21283676
Breast Neoplasms	Inhibit	21136273
Burkitt Lymphoma	Inhibit	17575215
Calcinosis	Inhibit	21710445
Cap Myopathy	Associate	24518599
Carcinogenesis	Associate	20027224, 31685442, 36153321
Carcinoma Hepatocellular	Associate	18326817, 21863061, 24498236, 31798276
Carcinoma Non Small Cell Lung	Associate	16175182
Carcinoma Pancreatic Ductal	Associate	34258619
Carcinoma Renal Cell	Associate	28775934
Carcinoma Squamous Cell	Associate	33671013
Cardio Renal Syndrome	Associate	37707956
Cardiomyopathy Dilated	Associate	36769209
Cardiovascular Diseases	Associate	20665672
Cell Transformation Neoplastic	Inhibit	21136273
Cholesteatoma	Associate	23927997
Cleidocranial Dysplasia	Associate	9268099
Colorectal Neoplasms	Associate	20027224, 22364398, 25227796, 29986714, 31685442
Coronary Artery Disease	Associate	25902833
Cytokine Release Syndrome	Stimulate	14558086
Endometriosis	Associate	32524577
Esophageal Squamous Cell Carcinoma	Stimulate	22364398
Exfoliation Syndrome	Associate	32641001
Femur Head Necrosis	Associate	24263212
Fractures Bone	Associate	33034913
Giant Cell Tumors	Associate	19528484
Glaucoma Angle Closure	Associate	32641001
Hemochromatosis	Associate	28335084, 31276102
Hypertension Pulmonary	Associate	18187665
IgA Vasculitis	Associate	15877825
Infertility	Associate	32524577
Inflammation	Inhibit	34594031
Iron Overload	Associate	28335084, 32464486
Leiomyosarcoma	Associate	36153321
Leukemia Lymphoma Adult T Cell	Associate	18688853
Leukemia Promyelocytic Acute	Associate	23528261
Liposarcoma	Associate	36153321
Lung Neoplasms	Associate	16175182
Lymphatic Metastasis	Associate	22695536
Lymphoma	Associate	17575215
Lymphoma Large B Cell Diffuse	Inhibit	17575215
Melanoma	Associate	36153321
Mouth Neoplasms	Associate	23775772
Multiple Myeloma	Inhibit	19718049
Muscular Dystrophy Duchenne	Associate	29682908
Musculoskeletal Diseases	Associate	33034913
Myocardial Infarction	Associate	36553589
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	9820184
Neoplasm Metastasis	Associate	11277266, 17997862, 20401668, 31201297, 9820184
Neoplasm Metastasis	Stimulate	18931653
Neoplasm Metastasis	Inhibit	22695536
Neoplasms	Associate	11277266, 17997862, 20401668, 21136273, 22364398, 23391636, 23775772, 25227796, 31201297, 31685442, 32153255, 36153321, 37522128
Neoplasms Squamous Cell	Associate	23775772
Neuralgia	Associate	25144566
Neuroendocrine Tumors	Associate	37522128
Osteoarthritis	Associate	19303468, 20515435
Osteonecrosis	Associate	24263212
Osteosarcoma	Associate	11986346, 36153321
Ovarian Neoplasms	Associate	38186569
Polycystic Ovary Syndrome	Associate	37930517
Primary Myelofibrosis	Stimulate	18349123
Primary Ovarian Insufficiency	Associate	36732629
Prostatic Neoplasms	Associate	11277266, 24518599, 33509203
Prostatic Neoplasms	Stimulate	18931653
Prostatic Neoplasms Castration Resistant	Associate	24518599, 31201297
Prostatitis	Associate	9820184
Prosthesis Failure	Associate	33671013
Salivary Gland Adenoma Pleomorphic	Associate	28523310
Salivary Gland Diseases	Associate	28523310
Sarcoma Ewing	Associate	36153321
Schizophrenia	Associate	19694819
Spondylarthropathies	Associate	14558086
Spondylitis Ankylosing	Associate	25121767
Uterine Cervical Neoplasms	Associate	33671013
Vascular Calcification	Associate	25902833

BMP6 (bone morphogenetic protein 6)