GenTIGS

Bone morphogenetic protein 4 (BMP4) Associated conditions: 1. Irido-corneo-trabecular dysgenesis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001202.6	NP_001193.2	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001347912.1	NP_001334841.1	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001347913.2	NP_001334842.1	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001347914.2	NP_001334843.1	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_001347915.2	NP_001334844.1	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NM_001347916.1	NP_001334845.1	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
7	REVIEWED	NM_001347917.1	NP_001334846.1	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
8	REVIEWED	NM_130850.5	NP_570911.2	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-
9	REVIEWED	NM_130851.4	NP_570912.2	NC_000014.9	(53949735..53956890, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1513 reference articles

Variant Information Bone morphogenetic protein 4 (BMP4) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Bone morphogenetic protein 4 (BMP4)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	acts_upstream_of_or_within	negative regulation of transcription by RNA polymerase II	Process	9187146
2	Homo sapiens	ISS	involved_in	negative regulation of transcription by RNA polymerase II	Process	-
3	Homo sapiens	IEA	involved_in	ossification	Process	-
4	Homo sapiens	IDA	involved_in	osteoblast differentiation	Process	17720811
5	Homo sapiens	IEA	involved_in	osteoblast differentiation	Process	-
6	Homo sapiens	IDA	acts_upstream_of_or_within	ureteric bud development	Process	12141440
7	Homo sapiens	IDA	involved_in	branching involved in ureteric bud morphogenesis	Process	12631064
8	Homo sapiens	IMP	involved_in	kidney development	Process	18305125
9	Homo sapiens	IEP	involved_in	mesonephros development	Process	18437684
10	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of protein phosphorylation	Process	14749725
11	Homo sapiens	IEA	involved_in	positive regulation of endothelial cell proliferation	Process	-
12	Homo sapiens	IEA	involved_in	endochondral ossification	Process	-
13	Homo sapiens	ISS	involved_in	endochondral ossification	Process	-
14	Homo sapiens	IDA	involved_in	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	Process	18787191
15	Homo sapiens	IEA	involved_in	chondrocyte differentiation	Process	-
16	Homo sapiens	ISS	involved_in	chondrocyte differentiation	Process	-
17	Homo sapiens	IDA	involved_in	hematopoietic progenitor cell differentiation	Process	15451575
18	Homo sapiens	IMP	involved_in	lymphoid progenitor cell differentiation	Process	12421925
19	Homo sapiens	IEA	involved_in	myeloid leukocyte differentiation	Process	-
20	Homo sapiens	IBA	involved_in	heart morphogenesis	Process	-
21	Homo sapiens	IEA	involved_in	heart morphogenesis	Process	-
22	Homo sapiens	IMP	involved_in	heart morphogenesis	Process	20702560
23	Homo sapiens	IEA	involved_in	heart induction	Process	-
24	Homo sapiens	IMP	involved_in	heart induction	Process	20702560
25	Homo sapiens	IMP	involved_in	secondary heart field specification	Process	20702560
26	Homo sapiens	IEA	involved_in	outflow tract septum morphogenesis	Process	-
27	Homo sapiens	ISS	involved_in	outflow tract septum morphogenesis	Process	-
28	Homo sapiens	IEA	involved_in	membranous septum morphogenesis	Process	-
29	Homo sapiens	ISS	involved_in	membranous septum morphogenesis	Process	-
30	Homo sapiens	ISS	NOT involved_in	muscular septum morphogenesis	Process	-
31	Homo sapiens	IEA	involved_in	outflow tract morphogenesis	Process	-
32	Homo sapiens	NAS	involved_in	sinoatrial node development	Process	26786210
33	Homo sapiens	IEA	involved_in	aortic valve morphogenesis	Process	-
34	Homo sapiens	ISS	involved_in	aortic valve morphogenesis	Process	-
35	Homo sapiens	IEA	involved_in	pulmonary valve morphogenesis	Process	-
36	Homo sapiens	ISS	involved_in	pulmonary valve morphogenesis	Process	-
37	Homo sapiens	IEA	involved_in	endocardial cushion development	Process	-
38	Homo sapiens	ISS	involved_in	endocardial cushion development	Process	-
39	Homo sapiens	ISS	NOT involved_in	epithelial to mesenchymal transition involved in endocardial cushion formation	Process	-
40	Homo sapiens	ISS	NOT involved_in	cardiac right ventricle morphogenesis	Process	-
41	Homo sapiens	ISS	NOT involved_in	apoptotic process involved in endocardial cushion morphogenesis	Process	-
42	Homo sapiens	TAS	involved_in	cardiac septum development	Process	18076106
43	Homo sapiens	IDA	involved_in	type B pancreatic cell development	Process	11865031
44	Homo sapiens	IBA	enables	cytokine activity	Function	-
45	Homo sapiens	IDA	enables	cytokine activity	Function	14749725
46	Homo sapiens	IEA	enables	cytokine activity	Function	-
47	Homo sapiens	IPI	enables	protein binding	Function	8413626 8752214 10748465 12045205 18339631 20505824 20860622 21054789 33308444
48	Homo sapiens	IEA	located_in	extracellular region	Component	-
49	Homo sapiens	ISS	located_in	extracellular region	Component	-
50	Homo sapiens	TAS	located_in	extracellular region	Component	-
51	Homo sapiens	IBA	is_active_in	extracellular space	Component	-
52	Homo sapiens	IDA	located_in	extracellular space	Component	16604073
53	Homo sapiens	IEA	located_in	extracellular space	Component	-
54	Homo sapiens	ISS	located_in	extracellular space	Component	-
55	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
56	Homo sapiens	IDA	involved_in	mesoderm development	Process	8752214
57	Homo sapiens	IEA	enables	growth factor activity	Function	-
58	Homo sapiens	IEA	enables	heparin binding	Function	-
59	Homo sapiens	IBA	involved_in	positive regulation of cell population proliferation	Process	-
60	Homo sapiens	IDA	involved_in	positive regulation of cell population proliferation	Process	15516325
61	Homo sapiens	ISS	involved_in	positive regulation of cell population proliferation	Process	-
62	Homo sapiens	IDA	acts_upstream_of_or_within	negative regulation of cell population proliferation	Process	9187146
63	Homo sapiens	IMP	involved_in	negative regulation of cell population proliferation	Process	20702560
64	Homo sapiens	IDA	acts_upstream_of_or_within	post-embryonic development	Process	8674409
65	Homo sapiens	IDA	involved_in	regulation of cell fate commitment	Process	18823971
66	Homo sapiens	IEA	involved_in	gene expression	Process	-
67	Homo sapiens	IDA	involved_in	positive regulation of gene expression	Process	24906886 28124060
68	Homo sapiens	IEA	involved_in	positive regulation of gene expression	Process	-
69	Homo sapiens	IDA	involved_in	negative regulation of gene expression	Process	28124060
70	Homo sapiens	IEA	involved_in	positive regulation of epithelial to mesenchymal transition	Process	-
71	Homo sapiens	IDA	acts_upstream_of_or_within	telencephalon development	Process	9187146
72	Homo sapiens	IEA	involved_in	telencephalon development	Process	-
73	Homo sapiens	IEA	involved_in	negative regulation of cell-cell adhesion	Process	-
74	Homo sapiens	IEA	involved_in	cell differentiation	Process	-
75	Homo sapiens	IDA	involved_in	monocyte differentiation	Process	21149635
76	Homo sapiens	IDA	involved_in	macrophage differentiation	Process	21149635
77	Homo sapiens	IEA	involved_in	positive regulation of cell migration	Process	-
78	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of bone mineralization	Process	14749725
79	Homo sapiens	IDA	involved_in	positive regulation of bone mineralization	Process	14749725 18436533
80	Homo sapiens	IEA	involved_in	positive regulation of bone mineralization	Process	-
81	Homo sapiens	IBA	involved_in	BMP signaling pathway	Process	-
82	Homo sapiens	IDA	involved_in	BMP signaling pathway	Process	8752214 9389648 10748465 16816361 17244894 18436533 18787191
83	Homo sapiens	IMP	acts_upstream_of_or_within	BMP signaling pathway	Process	17472960
84	Homo sapiens	IMP	involved_in	BMP signaling pathway	Process	17992660 18326817 20702560
85	Homo sapiens	ISS	involved_in	BMP signaling pathway	Process	-
86	Homo sapiens	IEA	involved_in	positive regulation of BMP signaling pathway	Process	-
87	Homo sapiens	ISS	involved_in	positive regulation of BMP signaling pathway	Process	-
88	Homo sapiens	IEA	involved_in	positive regulation of epithelial cell differentiation	Process	-
89	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of protein binding	Process	23610558
90	Homo sapiens	IDA	involved_in	positive regulation of collagen biosynthetic process	Process	17720811
91	Homo sapiens	IMP	involved_in	negative regulation of T cell differentiation in thymus	Process	12421925
92	Homo sapiens	IMP	involved_in	negative regulation of immature T cell proliferation in thymus	Process	12421925
93	Homo sapiens	IEA	involved_in	tendon cell differentiation	Process	-
94	Homo sapiens	ISS	involved_in	tendon cell differentiation	Process	-
95	Homo sapiens	IEA	involved_in	deltoid tuberosity development	Process	-
96	Homo sapiens	ISS	involved_in	deltoid tuberosity development	Process	-
97	Homo sapiens	IEA	enables	co-receptor binding	Function	-
98	Homo sapiens	IPI	enables	co-receptor binding	Function	16604073
99	Homo sapiens	IDA	enables	chemoattractant activity	Function	12631064
100	Homo sapiens	IDA	acts_upstream_of_or_within	regulation of protein import into nucleus	Process	22529382
101	Homo sapiens	IGI	involved_in	odontogenesis	Process	11023873
102	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of apoptotic process	Process	9187146
103	Homo sapiens	IEA	involved_in	positive regulation of apoptotic process	Process	-
104	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of programmed cell death	Process	8674409
105	Homo sapiens	IEA	involved_in	negative regulation of cell differentiation	Process	-
106	Homo sapiens	IEA	involved_in	positive regulation of endothelial cell differentiation	Process	-
107	Homo sapiens	IDA	involved_in	positive regulation of epidermal cell differentiation	Process	18823971
108	Homo sapiens	IDA	acts_upstream_of_or_within	negative regulation of myoblast differentiation	Process	14749725
109	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of osteoblast differentiation	Process	14749725
110	Homo sapiens	IDA	involved_in	positive regulation of osteoblast differentiation	Process	18436533
111	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of ossification	Process	14749725
112	Homo sapiens	IDA	involved_in	negative regulation of cell cycle	Process	11502704
113	Homo sapiens	IDA	involved_in	negative regulation of mitotic nuclear division	Process	17244894
114	Homo sapiens	IDA	acts_upstream_of_or_within	negative regulation of striated muscle tissue development	Process	14749725
115	Homo sapiens	IDA	involved_in	negative regulation of DNA-templated transcription	Process	12631064
116	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	17600318
117	Homo sapiens	IEA	involved_in	positive regulation of DNA-templated transcription	Process	-
118	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of transcription by RNA polymerase II	Process	9187146
119	Homo sapiens	IDA	involved_in	positive regulation of transcription by RNA polymerase II	Process	15516325
120	Homo sapiens	IGI	involved_in	positive regulation of transcription by RNA polymerase II	Process	18326817
121	Homo sapiens	ISS	involved_in	positive regulation of transcription by RNA polymerase II	Process	-
122	Homo sapiens	IDA	acts_upstream_of_or_within	lung alveolus development	Process	8674409
123	Homo sapiens	IDA	involved_in	intermediate mesodermal cell differentiation	Process	10021330
124	Homo sapiens	IDA	involved_in	positive regulation of smooth muscle cell proliferation	Process	17600318
125	Homo sapiens	IEA	involved_in	negative regulation of smooth muscle cell proliferation	Process	-
126	Homo sapiens	IEA	involved_in	smooth muscle tissue development	Process	-
127	Homo sapiens	IEP	involved_in	smooth muscle tissue development	Process	17850284
128	Homo sapiens	ISS	involved_in	smooth muscle tissue development	Process	-
129	Homo sapiens	IEA	involved_in	stem cell differentiation	Process	-
130	Homo sapiens	ISS	involved_in	stem cell differentiation	Process	-
131	Homo sapiens	IDA	involved_in	positive regulation of epithelial cell proliferation	Process	11865031
132	Homo sapiens	IEA	involved_in	positive chemotaxis	Process	-
133	Homo sapiens	IEA	involved_in	cartilage development	Process	-
134	Homo sapiens	IEA	involved_in	negative regulation of multicellular organismal process	Process	-
135	Homo sapiens	IEA	involved_in	cardiac muscle cell differentiation	Process	-
136	Homo sapiens	IMP	involved_in	positive regulation of cardiac muscle fiber development	Process	20702560
137	Homo sapiens	IDA	involved_in	positive regulation of SMAD protein signal transduction	Process	9389648 16816361 17244894 18787191 20559569
138	Homo sapiens	IEA	involved_in	positive regulation of SMAD protein signal transduction	Process	-
139	Homo sapiens	IMP	involved_in	positive regulation of SMAD protein signal transduction	Process	17992660
140	Homo sapiens	IDA	acts_upstream_of_or_within	lung morphogenesis	Process	8674409
141	Homo sapiens	IEA	involved_in	lung vasculature development	Process	-
142	Homo sapiens	IMP	involved_in	lung vasculature development	Process	17992660
143	Homo sapiens	IDA	acts_upstream_of_or_within	bronchus development	Process	8674409
144	Homo sapiens	IDA	acts_upstream_of_or_within	trachea development	Process	8674409
145	Homo sapiens	IDA	acts_upstream_of_or_within	epithelial tube branching involved in lung morphogenesis	Process	8674409
146	Homo sapiens	IEA	involved_in	epithelial tube branching involved in lung morphogenesis	Process	-
147	Homo sapiens	IDA	acts_upstream_of_or_within	epithelial cell proliferation involved in lung morphogenesis	Process	8674409
148	Homo sapiens	IDA	acts_upstream_of_or_within	bud dilation involved in lung branching	Process	8674409
149	Homo sapiens	IEA	involved_in	muscle tissue development	Process	-
150	Homo sapiens	IEA	involved_in	coronary vasculature development	Process	-
151	Homo sapiens	ISS	involved_in	coronary vasculature development	Process	-
152	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of cartilage development	Process	3201241
153	Homo sapiens	IEA	involved_in	positive regulation of cartilage development	Process	-
154	Homo sapiens	IEA	involved_in	positive regulation of branching involved in lung morphogenesis	Process	-
155	Homo sapiens	ISS	involved_in	positive regulation of branching involved in lung morphogenesis	Process	-
156	Homo sapiens	IEA	involved_in	pharyngeal arch artery morphogenesis	Process	-
157	Homo sapiens	ISS	involved_in	pharyngeal arch artery morphogenesis	Process	-
158	Homo sapiens	IMP	involved_in	negative regulation of thymocyte apoptotic process	Process	12421925
159	Homo sapiens	IDA	enables	BMP receptor binding	Function	7811286
160	Homo sapiens	IEA	enables	BMP receptor binding	Function	-
161	Homo sapiens	IEA	involved_in	cellular response to BMP stimulus	Process	-
162	Homo sapiens	IMP	involved_in	cellular response to BMP stimulus	Process	18326817
163	Homo sapiens	IEA	involved_in	glomerular capillary formation	Process	-
164	Homo sapiens	ISS	involved_in	glomerular capillary formation	Process	-
165	Homo sapiens	IDA	involved_in	negative regulation of glomerular mesangial cell proliferation	Process	17244894
166	Homo sapiens	IDA	involved_in	nephric duct formation	Process	10021330
167	Homo sapiens	IEA	involved_in	ureter morphogenesis	Process	-
168	Homo sapiens	IDA	involved_in	negative regulation of mesenchymal cell proliferation involved in ureter development	Process	12399320
169	Homo sapiens	IEA	involved_in	regulation of branching involved in ureteric bud morphogenesis	Process	-
170	Homo sapiens	IDA	involved_in	negative regulation of branching involved in ureteric bud morphogenesis	Process	12141440
171	Homo sapiens	IEA	involved_in	negative regulation of branching involved in ureteric bud morphogenesis	Process	-
172	Homo sapiens	IDA	involved_in	negative regulation of glomerulus development	Process	12141440
173	Homo sapiens	ISS	acts_upstream_of_positive_effect	positive regulation of protein localization to nucleus	Process	-
174	Homo sapiens	IDA	involved_in	positive regulation of p38MAPK cascade	Process	17600318
175	Homo sapiens	IEA	involved_in	positive regulation of p38MAPK cascade	Process	-
176	Homo sapiens	IEA	involved_in	positive regulation of odontoblast differentiation	Process	-
177	Homo sapiens	ISS	involved_in	positive regulation of odontoblast differentiation	Process	-
178	Homo sapiens	IMP	NOT involved_in	regulation of miRNA transcription	Process	18548003
179	Homo sapiens	IDA	involved_in	negative regulation of miRNA transcription	Process	28124060
180	Homo sapiens	TAS	involved_in	negative regulation of vascular associated smooth muscle cell proliferation	Process	22988237
181	Homo sapiens	TAS	involved_in	negative regulation of vascular associated smooth muscle cell migration	Process	22988237
182	Homo sapiens	ISS	NOT involved_in	cardiac jelly development	Process	-
183	Homo sapiens	IEA	involved_in	positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	Process	-
184	Homo sapiens	IDA	involved_in	negative regulation of metanephric S-shaped body morphogenesis	Process	12141440
185	Homo sapiens	IDA	involved_in	negative regulation of metanephric comma-shaped body morphogenesis	Process	12141440
186	Homo sapiens	IDA	involved_in	positive regulation of primary miRNA processing	Process	18548003
187	Homo sapiens	IEA	involved_in	regulation of cardiac muscle cell differentiation	Process	-
188	Homo sapiens	IEA	involved_in	negative regulation of extrinsic apoptotic signaling pathway	Process	-
189	Homo sapiens	ISS	involved_in	negative regulation of extrinsic apoptotic signaling pathway	Process	-