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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	652
Gene name	Bone morphogenetic protein 4
Gene symbol	BMP4
Synonyms (NCBI Gene)	BMP2BBMP2B1MCOPS6OFC11ZYME
Chromosome	14
Chromosome location	14q22.2
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121912765	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912767	G>C	Pathogenic, likely-benign	Missense variant, coding sequence variant
rs376960358	T>C	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs387906597	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1594792712	C>T	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all (56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT053282	hsa-let-7i-5p	Luciferase reporter assayqRT-PCRWestern blot	23454123
MIRT053282	hsa-let-7i-5p	Luciferase reporter assayqRT-PCRWestern blot	23454123
MIRT822474	hsa-miR-147	CLIP-seq
MIRT822475	hsa-miR-297	CLIP-seq
MIRT822476	hsa-miR-299-3p	CLIP-seq
MIRT822477	hsa-miR-3650	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT822479	hsa-miR-4491	CLIP-seq
MIRT822480	hsa-miR-4657	CLIP-seq
MIRT822481	hsa-miR-567	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444815	hsa-miR-1193	CLIP-seq
MIRT2444816	hsa-miR-1262	CLIP-seq
MIRT2444817	hsa-miR-1292	CLIP-seq
MIRT822474	hsa-miR-147	CLIP-seq
MIRT2444818	hsa-miR-3681	CLIP-seq
MIRT2444819	hsa-miR-3691-5p	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT2444820	hsa-miR-4267	CLIP-seq
MIRT2444821	hsa-miR-4274	CLIP-seq
MIRT2444822	hsa-miR-4471	CLIP-seq
MIRT2444823	hsa-miR-4481	CLIP-seq
MIRT2444824	hsa-miR-4701-3p	CLIP-seq
MIRT2444825	hsa-miR-4745-5p	CLIP-seq
MIRT2444826	hsa-miR-4758-5p	CLIP-seq
MIRT2444827	hsa-miR-622	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444828	hsa-miR-648	CLIP-seq
MIRT2444815	hsa-miR-1193	CLIP-seq
MIRT2444816	hsa-miR-1262	CLIP-seq
MIRT2444817	hsa-miR-1292	CLIP-seq
MIRT822474	hsa-miR-147	CLIP-seq
MIRT2444818	hsa-miR-3681	CLIP-seq
MIRT2444819	hsa-miR-3691-5p	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT2444822	hsa-miR-4471	CLIP-seq
MIRT2444823	hsa-miR-4481	CLIP-seq
MIRT2444824	hsa-miR-4701-3p	CLIP-seq
MIRT2444825	hsa-miR-4745-5p	CLIP-seq
MIRT2444826	hsa-miR-4758-5p	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444828	hsa-miR-648	CLIP-seq
MIRT2444815	hsa-miR-1193	CLIP-seq
MIRT2444816	hsa-miR-1262	CLIP-seq
MIRT2444817	hsa-miR-1292	CLIP-seq
MIRT822474	hsa-miR-147	CLIP-seq
MIRT2444818	hsa-miR-3681	CLIP-seq
MIRT2444819	hsa-miR-3691-5p	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT2444822	hsa-miR-4471	CLIP-seq
MIRT2444823	hsa-miR-4481	CLIP-seq
MIRT2444824	hsa-miR-4701-3p	CLIP-seq
MIRT2444825	hsa-miR-4745-5p	CLIP-seq
MIRT2444826	hsa-miR-4758-5p	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444828	hsa-miR-648	CLIP-seq

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Transcription factor	Regulation	Reference
ETS1	Activation	15695386
FOXL1	Activation	17873379
POU5F1	Repression	17068183
SOX2	Repression	24477565

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	9187146
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	IEA
GO:0001503	Process	Ossification	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	17720811
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001656	Process	Metanephros development	IEA
GO:0001657	Process	Ureteric bud development	IDA	12141440
GO:0001657	Process	Ureteric bud development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IDA	12631064
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001759	Process	Organ induction	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	IMP	18305125
GO:0001823	Process	Mesonephros development	IEP	18437684
GO:0001843	Process	Neural tube closure	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	14749725
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0001958	Process	Endochondral ossification	ISS
GO:0002043	Process	Blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	18787191
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IDA	15451575
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IMP	12421925
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IMP	20702560
GO:0003014	Process	Renal system process	IEA
GO:0003129	Process	Heart induction	IEA
GO:0003129	Process	Heart induction	IMP	20702560
GO:0003139	Process	Secondary heart field specification	IMP	20702560
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003150	Process	Muscular septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003163	Process	Sinoatrial node development	NAS	26786210
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003197	Process	Endocardial cushion development	IEA
GO:0003197	Process	Endocardial cushion development	ISS
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003277	Process	Apoptotic process involved in endocardial cushion morphogenesis	ISS
GO:0003279	Process	Cardiac septum development	TAS	18076106
GO:0003323	Process	Type B pancreatic cell development	IDA	11865031
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	14749725
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	8413626, 8752214, 12045205, 18339631, 20505824, 20860622, 21054789, 33308444
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	16604073
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007498	Process	Mesoderm development	IDA	8752214
GO:0007500	Process	Mesodermal cell fate determination	IEA
GO:0007507	Process	Heart development	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15516325
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9187146
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	20702560
GO:0009791	Process	Post-embryonic development	IDA	8674409
GO:0009791	Process	Post-embryonic development	IEA
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0010159	Process	Specification of animal organ position	IEA
GO:0010453	Process	Regulation of cell fate commitment	IDA	18823971
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	24906886, 28124060
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	28124060
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0021537	Process	Telencephalon development	IDA	9187146
GO:0021537	Process	Telencephalon development	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0022408	Process	Negative regulation of cell-cell adhesion	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030224	Process	Monocyte differentiation	IDA	21149635
GO:0030225	Process	Macrophage differentiation	IDA	21149635
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IDA	14749725
GO:0030501	Process	Positive regulation of bone mineralization	IDA	14749725, 18436533
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 12065756
GO:0030509	Process	BMP signaling pathway	IDA	8752214, 9389648, 16816361, 17244894, 18436533, 18787191
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	17472960
GO:0030509	Process	BMP signaling pathway	IMP	17992660, 18326817, 20702560
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030510	Process	Regulation of BMP signaling pathway	IDA	33667543
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	33667543
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0032092	Process	Positive regulation of protein binding	IDA	23610558
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	17720811
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	IMP	12421925
GO:0033088	Process	Negative regulation of immature T cell proliferation in thymus	IMP	12421925
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035990	Process	Tendon cell differentiation	IEA
GO:0035990	Process	Tendon cell differentiation	ISS
GO:0035993	Process	Deltoid tuberosity development	IEA
GO:0035993	Process	Deltoid tuberosity development	ISS
GO:0036305	Process	Ameloblast differentiation	IEA
GO:0039706	Function	Co-receptor binding	IEA
GO:0039706	Function	Co-receptor binding	IPI	16604073
GO:0042056	Function	Chemoattractant activity	IDA	12631064
GO:0042306	Process	Regulation of protein import into nucleus	IDA	22529382
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042476	Process	Odontogenesis	IGI	11023873
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	9187146
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043068	Process	Positive regulation of programmed cell death	IDA	8674409
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	14749725
GO:0045165	Process	Cell fate commitment	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	IDA	18823971
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	14749725
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IDA	14749725
GO:0045669	Process	Positive regulation of osteoblast differentiation	IDA	18436533
GO:0045778	Process	Positive regulation of ossification	IDA	14749725
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045786	Process	Negative regulation of cell cycle	IDA	11502704
GO:0045839	Process	Negative regulation of mitotic nuclear division	IDA	17244894
GO:0045843	Process	Negative regulation of striated muscle tissue development	IDA	14749725
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12631064
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17600318
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9187146
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15516325
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:0048286	Process	Lung alveolus development	IDA	8674409
GO:0048333	Process	Mesodermal cell differentiation	IEA
GO:0048392	Process	Intermediate mesodermal cell differentiation	IDA	10021330
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	17600318
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0048745	Process	Smooth muscle tissue development	ISS
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	11865031
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050918	Process	Positive chemotaxis	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051150	Process	Regulation of smooth muscle cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051241	Process	Negative regulation of multicellular organismal process	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055020	Process	Positive regulation of cardiac muscle fiber development	IMP	20702560
GO:0060235	Process	Lens induction in camera-type eye	IEA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IEA
GO:0060348	Process	Bone development	IEA
GO:0060363	Process	Cranial suture morphogenesis	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	9389648, 16816361, 17244894, 18787191, 20559569
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	17992660
GO:0060425	Process	Lung morphogenesis	IDA	8674409
GO:0060426	Process	Lung vasculature development	IEA
GO:0060426	Process	Lung vasculature development	IMP	17992660
GO:0060429	Process	Epithelium development	IEA
GO:0060433	Process	Bronchus development	IDA	8674409
GO:0060438	Process	Trachea development	IDA	8674409
GO:0060440	Process	Trachea formation	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IDA	8674409
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060442	Process	Branching involved in prostate gland morphogenesis	IEA
GO:0060449	Process	Bud elongation involved in lung branching	IEA
GO:0060502	Process	Epithelial cell proliferation involved in lung morphogenesis	IDA	8674409
GO:0060503	Process	Bud dilation involved in lung branching	IDA	8674409
GO:0060512	Process	Prostate gland morphogenesis	IEA
GO:0060513	Process	Prostatic bud formation	IEA
GO:0060537	Process	Muscle tissue development	IEA
GO:0060592	Process	Mammary gland formation	IEA
GO:0060684	Process	Epithelial-mesenchymal cell signaling	IEA
GO:0060686	Process	Negative regulation of prostatic bud formation	IEA
GO:0060687	Process	Regulation of branching involved in prostate gland morphogenesis	IEA
GO:0060688	Process	Regulation of morphogenesis of a branching structure	IEA
GO:0060976	Process	Coronary vasculature development	IEA
GO:0060976	Process	Coronary vasculature development	ISS
GO:0061035	Process	Regulation of cartilage development	IEA
GO:0061036	Process	Positive regulation of cartilage development	IDA	3201241
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0061047	Process	Positive regulation of branching involved in lung morphogenesis	IEA
GO:0061047	Process	Positive regulation of branching involved in lung morphogenesis	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IMP	12421925
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070700	Function	BMP receptor binding	IDA	7811286
GO:0070700	Function	BMP receptor binding	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0072104	Process	Glomerular capillary formation	IEA
GO:0072104	Process	Glomerular capillary formation	ISS
GO:0072125	Process	Negative regulation of glomerular mesangial cell proliferation	IDA	17244894
GO:0072179	Process	Nephric duct formation	IDA	10021330
GO:0072197	Process	Ureter morphogenesis	IEA
GO:0072200	Process	Negative regulation of mesenchymal cell proliferation involved in ureter development	IDA	12399320
GO:0090189	Process	Regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090191	Process	Negative regulation of branching involved in ureteric bud morphogenesis	IDA	12141440
GO:0090191	Process	Negative regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090194	Process	Negative regulation of glomerulus development	IDA	12141440
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IDA	17600318
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	ISS
GO:1902893	Process	Regulation of miRNA transcription	IMP	18548003
GO:1902894	Process	Negative regulation of miRNA transcription	IDA	28124060
GO:1904238	Process	Pericyte cell differentiation	IEA
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	TAS	22988237
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	TAS	22988237
GO:1905072	Process	Cardiac jelly development	ISS
GO:1905312	Process	Positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:1905770	Process	Regulation of mesodermal cell differentiation	IEA
GO:2000005	Process	Negative regulation of metanephric S-shaped body morphogenesis	IDA	12141440
GO:2000007	Process	Negative regulation of metanephric comma-shaped body morphogenesis	IDA	12141440
GO:2000636	Process	Positive regulation of primary miRNA processing	IDA	18548003
GO:2000725	Process	Regulation of cardiac muscle cell differentiation	IEA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IEA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	ISS

MIM	HGNC	e!Ensembl
112262	1071	ENSG00000125378

P12644

Protein name

Bone morphogenetic protein 4 (BMP-4) (Bone morphogenetic protein 2B) (BMP-2B)

Protein function

Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Acts in concert with PTHLH/PTHRP to stimulate du

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	39 → 275	TGF-beta propeptide	Family
PF00019	TGF_beta	307 → 407	Transforming growth factor beta like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.

Sequence

MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEAT
LLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIHSTGLEYPERPASRANTVRSF
HHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINI
YEVMKPPAEVVPGHLITRLLDTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTH
LHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQR
ARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTL
VNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGCGCR

Sequence length

408

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells Thyroid hormone signaling pathway Pathways in cancer Basal cell carcinoma Fluid shear stress and atherosclerosis		Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

400

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Irido-corneo-trabecular dysgenesis	Likely pathogenic	rs2502576504	RCV002291345
Microphthalmia with brain and digit anomalies	Pathogenic; Likely pathogenic	rs2140238013, rs2140237954, rs2502585093, rs387906597, rs2140238150	RCV001956323 RCV000019274 RCV004556167 RCV000022456 RCV000022457
Orofacial cleft 11	Pathogenic	rs2140238013, rs387906597	RCV001956323 RCV000022455
See cases	Likely pathogenic; Pathogenic	rs2140235147, rs2502591946, rs2502584237	RCV001420254 RCV004555930 RCV004555931

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Absence of the sacrum	Uncertain significance	rs760019960	RCV000856839
Aplasia/hypoplasia involving bones of the lower limbs	Uncertain significance	rs760019960	RCV000856839
BMP4-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs770777693, rs1191198347, rs565895316, rs373162816, rs753644986, rs150746317, rs773235106, rs2502603578, rs112898335, rs184160019, rs2502580652, rs1248669414, rs918755710, rs752087708, rs752843930 View all (7 more)	RCV003407792 RCV003958578 RCV003404067 RCV003946335 RCV003953821 RCV003918945 RCV003414500 RCV003400191 RCV003893391 RCV003906984 RCV003983449 RCV003902311 RCV003924779 RCV003959299 RCV003951369 RCV003954730 RCV003934842 RCV003974850 RCV003420028 RCV003906210 RCV004751886 RCV004751885
BMP4-Related Syndromic Microphthalmia	Conflicting classifications of pathogenicity; Uncertain significance	rs796563569, rs878985651, rs140085940, rs1555339771, rs886050539, rs776094026	RCV000391547 RCV000319852 RCV000324834 RCV000368043 RCV000315014 RCV000299171 RCV000289496 RCV000391556 RCV000790928
Cleft Lip +/- Cleft Palate, Autosomal Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs17563, rs796563569, rs76335800, rs750395429, rs878985651, rs74054236, rs886050540, rs73267467, rs778139957, rs568281464, rs140085940, rs1555339771, rs886050541, rs777501416, rs886050539, rs76149166 View all (1 more)	RCV000366338 RCV000349187 RCV000265565 RCV000364994 RCV000279585 RCV000320310 RCV000336899 RCV000340809 RCV000276539 RCV000367518 RCV000392095 RCV000329666 RCV000292892 RCV000377211 RCV000344659 RCV000262764 RCV000384935 RCV000345407 RCV000294998
Congenital heart disease	Conflicting classifications of pathogenicity	rs771047931	RCV005625543
Intellectual disability	Conflicting classifications of pathogenicity	rs121912767, rs140920120	RCV005624698 RCV005626332
Kapur-Toriello syndrome	Uncertain significance	rs2502588215	RCV003326066
Low bone mineral density	Uncertain significance	rs1566579495	RCV000681619
Orofacial cleft	Conflicting classifications of pathogenicity; Uncertain significance	rs796563569, rs573118445, rs878985651, rs74495140, rs140085940, rs1555339771, rs368426865, rs771047931, rs886050539	RCV000314154 RCV000392088 RCV000307921 RCV000267337 RCV000334903 RCV000276116 RCV000350277 RCV000369966 RCV000301329 RCV000284761 RCV000346822 RCV000310719
Syndromic Microphthalmia, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	rs796563569, rs750395429, rs878985651, rs886050540, rs778139957, rs568281464, rs74495140, rs140085940, rs1555339771, rs368426865, rs886050541, rs777501416, rs886050539, rs76149166	RCV000371315 RCV000272736 RCV000333475 RCV000377294 RCV000305941 RCV000272960 RCV000336144 RCV000299933 RCV000272234 RCV000408416 RCV000277850 RCV000373611 RCV000400269 RCV000260248 RCV000381643 RCV000288055 RCV000371833
Tooth agenesis	Uncertain significance	rs1566579495, rs1566581714	RCV000681619 RCV001784307

Show/Hide Text Mining Associations (223)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Associate	36768749
Adenoameloblastoma	Associate	27780042
Adenocarcinoma	Associate	27191723
Adenocarcinoma of Lung	Associate	34036102
Adenoma	Associate	20949628
Alzheimer Disease	Associate	36764297
Ameloblastoma	Associate	27780042
Anemia Aplastic	Associate	26215597
Anodontia	Associate	26166641, 31128441
Anophthalmia with pulmonary hypoplasia	Associate	18252212
Anophthalmos	Associate	21340693, 24431331, 30568244
Anorectal Malformations	Associate	23127126
Anterior segment mesenchymal dysgenesis	Associate	21340693, 32224865
Aortic Valve Disease	Associate	23483047
Arthritis Juvenile	Stimulate	24782191
Arthritis Juvenile	Associate	33980237
Arthritis Rheumatoid	Inhibit	16542506, 33463122
Arthritis Rheumatoid	Associate	31178673
Asthma	Associate	35731115, 35858526
Astrocytoma	Associate	23590708
Atherosclerosis	Associate	30713213
Autistic Disorder	Associate	22578327
Axenfeld Rieger syndrome	Associate	21340693
Azoospermia	Associate	25977194
Azoospermia	Stimulate	35721721
Barrett Esophagus	Associate	27191723
Barrett Esophagus	Stimulate	32968094, 34786954
Bone Diseases	Associate	11154231, 23927997, 36453845
Bone Diseases Metabolic	Associate	31128441
Brain Diseases	Associate	18252212
Breast Neoplasms	Associate	22118688, 22899288, 23180569, 24337772, 25601208, 26976638, 27740625, 28077088, 30161001, 36194598
Breast Neoplasms	Inhibit	24053318
Bronchiolitis Obliterans Syndrome	Associate	26476349
Cakut	Associate	24131739, 30568244
Calcinosis	Inhibit	21710445
Calcinosis	Associate	31298330, 35955575
Calcinosis	Stimulate	36958298
Cancer Pain	Associate	28231844
Capillary Malformation Arteriovenous Malformation	Associate	24131739
Carcinogenesis	Associate	26339396, 30079292
Carcinoma Basal Cell	Associate	17003113
Carcinoma Hepatocellular	Associate	18326817, 21863061, 22350792, 23437062, 24573607, 29562958, 38062093
Carcinoma Non Small Cell Lung	Inhibit	19269967
Carcinoma Non Small Cell Lung	Associate	24779016, 28231844, 28574846, 31298330
Carcinoma Ovarian Epithelial	Associate	23255092
Carcinoma Ovarian Epithelial	Stimulate	34110955
Carcinoma Renal Cell	Associate	22430804
Carcinoma Squamous Cell	Associate	22899288, 30705127
Cardiomyopathy Dilated	Associate	33407844
Cardiovascular Diseases	Associate	20665672
Cartilage Diseases	Associate	35313742
Cataract	Associate	20057906, 29692399
Cayler cardiofacial syndrome	Associate	19249007
Cholangiocarcinoma	Associate	25740074
Cholesteatoma	Associate	23927997
Chordoma	Associate	26339396
Cleft Lip	Associate	19249007, 24589633, 25471993
Cleft Palate	Associate	17564975, 19249007, 22514733, 24589633, 25471993, 29211286, 31063268
Cognition Disorders	Associate	21340693
Colitis Associated Neoplasms	Associate	35733095
Colitis Ulcerative	Stimulate	35733095
Coloboma	Associate	20057906
Colorectal Neoplasms	Associate	16733264, 20949628, 21387313, 21655089, 22367214, 22383492, 24753543, 26072521, 29986714, 33565505, 33982211, 36657129, 37628872
Combined Pituitary Hormone Deficiency	Associate	35805171
Corneal Dystrophy Posterior Polymorphous 1	Associate	28654985
Coronary Artery Disease	Associate	23208015, 28604383
Deafness oligodontia syndrome	Associate	23079991
Demyelinating Diseases	Associate	30609838
Desmoplastic Small Round Cell Tumor	Associate	15389255
Developmental Disabilities	Associate	21340693
Diabetes Mellitus	Associate	32596370
Diabetes Mellitus Type 2	Associate	24350253, 32596370
Disease	Associate	31128441
Endometrial Neoplasms	Associate	24077349
Endometriosis	Associate	24661731
Esophageal Squamous Cell Carcinoma	Associate	18219111
Essential Hypertension	Associate	25591903
Eye Abnormalities	Associate	27661448, 28558098
Eye Diseases	Associate	21340693
Fibrosis	Associate	26476349
Fibrosis	Inhibit	27586653, 28159972
Fractures Bone	Associate	23939983
Gallbladder Diseases	Associate	26111189
Giant Cell Tumors	Associate	19528484
Glaucoma	Associate	12131877
Glaucoma Open Angle	Associate	22736943
Glioblastoma	Associate	23590708, 26748716, 31189077, 32234828, 35192123, 35639831, 40362216
Glioma	Associate	23590708, 24099560, 25808628, 32788653
Glioma	Inhibit	36324293
Growth Disorders	Associate	21340693
Heart Defects Congenital	Associate	25022354, 29952356
Heart Failure	Associate	35346191
Heart Septal Defects	Associate	25022354, 29952356
Heart Septal Defects Atrial	Associate	25022354
Hemochromatosis	Associate	17847004, 39563390
Hepatitis C	Associate	23775568
Hereditary renal agenesis	Associate	23262432
Hernia Diaphragmatic	Associate	21340693
Heterotaxy Syndrome	Associate	26111189
Hydrocephalus	Associate	21340693
Hypertension	Associate	25591903, 29390526
Hypertrophy	Associate	24782191, 25591903, 33198759
Hypertrophy Left Ventricular	Associate	25591903
Hypogonadism	Associate	35805171
Hypothyroidism Congenital Nongoitrous 2	Associate	8678932
Hypoxia	Associate	18587495, 37180146, 40613289
Hypoxia Brain	Inhibit	15220111
Infertility Male	Associate	25977194
Inflammation	Inhibit	22718766
Inflammation	Stimulate	30609838
Inflammation	Associate	33575344
Intestinal Diseases	Associate	37819756
Iron Overload	Associate	39563390
Juvenile polyposis syndrome	Associate	20949628
Kashin Beck Disease	Associate	35313742
Keloid	Associate	35047146
Keratoconus	Associate	19956410
Kidney Diseases Cystic	Associate	23262432
Klippel Feil Syndrome	Associate	23899883
Knee Injuries	Associate	25151085
Leukemia	Associate	24100446, 24400095, 29138221
Leukemia Lymphocytic Chronic B Cell	Associate	30206237
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	24100446
Leukemia Myeloid Acute	Associate	26279521, 30262802, 31322275
Leukemia Myeloid Chronic Phase	Associate	24100446
Leukemia Myelomonocytic Juvenile	Associate	21406719, 26720758
Leukemia Promyelocytic Acute	Associate	23528261
Liver Cirrhosis	Inhibit	29578859
Liver Diseases	Associate	23775568
Loeys Dietz Syndrome	Associate	25116393
Lung Diseases	Associate	22718766
Lung Neoplasms	Associate	19269967
Lymphatic Metastasis	Stimulate	31298330
Macular Degeneration	Stimulate	19158083
Macular Degeneration	Associate	20157553
Mast Cell Activation Disorders	Associate	31708535
Megalencephaly	Associate	21340693
Melanoma	Associate	20480203, 21673687
Microphthalmia Syndromic 6	Associate	18252212, 21340693
Microphthalmos	Associate	20057906, 21340693, 29692399, 30568244
Mitral Valve Prolapse	Associate	22105615
Mouth Diseases	Associate	8678932, 9042799
Mucopolysaccharidosis I	Associate	18385288
Mullerian aplasia	Associate	35361250
Multicystic Dysplastic Kidney	Associate	24131739
Multicystic renal dysplasia bilateral	Associate	24131739
Multiple Myeloma	Associate	11154231
Multiple Sclerosis	Associate	30553833, 30609838
Myelodysplastic Syndromes	Inhibit	25608238
Myopia	Associate	18252212
Myositis Ossificans	Associate	10457277, 15940369, 27530160, 8678932, 9042799
Myositis Ossificans	Stimulate	16753021
Nasal Polyps	Associate	29367682
Neoplasm Metastasis	Associate	22350792, 23590708, 24099560
Neoplasms	Associate	11986346, 15785755, 18854600, 20233874, 22350792, 22430804, 22899288, 23180569, 23255092, 23590708, 24077349, 24100446, 24400095, 24573607, 24968322 View all (5 more)
Neoplasms	Inhibit	24099560, 26720758
Neoplasms Germ Cell and Embryonal	Associate	32441446
Neuroblastoma	Associate	29051534, 32210188
Neurodegenerative Diseases	Associate	16542506
Neurologic Manifestations	Associate	18385288
Ocular Hypertension	Associate	22736943
Oculocutaneous albinism type 2	Associate	29339669
Odontogenic Cysts	Associate	30079292
Odontogenic Tumors	Associate	18854600
Oligospermia	Stimulate	35721721
Orofacial Cleft 1	Associate	22182590, 22514733, 25471993
Orofacial Cleft 11	Associate	17564975
Ossification of Posterior Longitudinal Ligament	Associate	22052794, 40613289
Osteoarthritis	Inhibit	16542506
Osteoarthritis	Associate	24894724, 35313742, 36046996
Osteolysis	Inhibit	17729302
Osteoporosis	Associate	31128441
Osteosarcoma	Associate	11986346, 33034913
Otosclerosis	Associate	18021008
Ovarian Neoplasms	Associate	21674241, 23255092
Pancreatic Neoplasms	Associate	19018761, 19056927
Pancreatic Neoplasms	Stimulate	23651239
Parkinson Disease	Associate	33791366
Peri Implantitis	Associate	27652695
Pheochromocytoma	Associate	23785438
Pilomatrixoma	Associate	15102076
Pituitary Diseases	Associate	18252212
Plagiocephaly and X linked mental retardation	Associate	21340693
Polydactyly	Associate	18252212
Polydactyly Postaxial	Associate	21340693
Polyps	Associate	20949628
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24400095
Prostatic Neoplasms	Associate	18942118, 25858146
Prostatitis	Associate	15861517
Pulmonary Arterial Hypertension	Associate	19324947, 22718766, 27875556, 35442992
Pulmonary Disease Chronic Obstructive	Associate	30705127
Radiation Pneumonitis	Associate	28574846
Renal Insufficiency Chronic	Stimulate	23208015
Retinal Dystrophies	Associate	18252212
Retinoblastoma	Associate	21152263, 26173116
Rhabdomyosarcoma	Stimulate	33034913
Sarcoma Synovial	Stimulate	33034913
Schimke immunoosseous dysplasia	Associate	22699664
Sclerocornea	Associate	21340693
Scleroderma Systemic	Associate	31178673, 31545397
Senior Loken Syndrome	Associate	23262432, 30568244
Sertoli Cell Only Syndrome	Stimulate	25977194
SHORT syndrome	Associate	21340693
Skin Diseases	Associate	35393522
Skull Base Neoplasms	Associate	26339396
Skull Fractures	Associate	23939983
Spongiform Encephalopathy with Neuropsychiatric Features	Associate	30729724
Stickler syndrome type 1	Associate	30568244
Stomach Neoplasms	Stimulate	37180146
Syndactyly	Associate	18252212
Thyroid Cancer Papillary	Associate	38237535
Tuberculosis Spinal	Associate	28376475
Typical Teratoid Rhabdoid Tumor	Associate	21946044
Ureteral Neoplasms	Associate	28928250
Urethral Neoplasms	Associate	31128441
Urinary Bladder Neoplasms	Associate	21483740, 33452764
Uterine Cervicitis	Associate	23899883
Uveitis	Associate	26848019
Uveitis Posterior	Associate	26848019
Varicose Veins	Associate	34944071
Vascular Calcification	Associate	39768183
Ventricular Remodeling	Associate	25591903
Vitreoretinopathy Proliferative	Associate	27586653

BMP4 (bone morphogenetic protein 4)