SMAD1 (SMAD family member 1)

Gene

• Entrez ID: 4086
• Gene name: SMAD family member 1
• Gene symbol: SMAD1
• Synonyms (NCBI Gene): BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1
• Chromosome: 4
• Chromosome location: 4q31.21
• Summary: The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene `mothers against decapentaplegic` (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional mo

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001500	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Western blot	20427544
MIRT001500	hsa-miR-155-5p	pSILAC	18668040
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	14697198
MIRT002340	hsa-miR-26a-5p	Western blot	20857419
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assay, Western blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assay, Western blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assay, Western blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assay, Western blot	22253433
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	23028144
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	23028144
MIRT001500	hsa-miR-155-5p	Proteomics	18668040
MIRT002340	hsa-miR-26a-5p	Reporter assay	18197755
MIRT031384	hsa-miR-16-5p	Proteomics	18668040
MIRT053377	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western blot	23800974
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	24047927
MIRT438188	hsa-miR-675-3p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	24047927
MIRT438188	hsa-miR-675-3p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT653382	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT653381	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT653380	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT653379	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT653378	hsa-miR-3117-3p	HITS-CLIP	23824327
MIRT731492	hsa-miR-26b-5p	Luciferase reporter assay	27027434
MIRT731492	hsa-miR-26b-5p	Luciferase reporter assay	27027434
MIRT002340	hsa-miR-26a-5p	Immunoblot, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, qRT-PCR	26548531
MIRT002340	hsa-miR-26a-5p	Immunoblot, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, qRT-PCR	26548531
MIRT732815	hsa-miR-100-5p	Luciferase reporter assay, RNA-seq, qRT-PCR, Western blotting	34256859
MIRT733479	hsa-miR-135a-5p	Immunohistochemistry (IHC), Immunoprecipitaion (IP), In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	34145212
MIRT734178	hsa-miR-144-5p	Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	31853287
MIRT735286	rno-miR-203a-3p	Luciferase reporter assay, Western blotting, Microarray, Immunofluorescence, qRT-PCR	32589363
MIRT736848	hsa-miR-486-5p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	34158869
MIRT653382	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT653381	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT653380	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT653379	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT653378	hsa-miR-3117-3p	HITS-CLIP	23824327
MIRT755583	hsa-miR-424-3p	Western blotting	36846585
MIRT1370368	hsa-miR-1254	CLIP-seq
MIRT1370369	hsa-miR-129-5p	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370371	hsa-miR-155	CLIP-seq
MIRT1370372	hsa-miR-1827	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370374	hsa-miR-1913	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370376	hsa-miR-223	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT1370379	hsa-miR-3116	CLIP-seq
MIRT1370380	hsa-miR-3180-5p	CLIP-seq
MIRT1370381	hsa-miR-324-3p	CLIP-seq
MIRT1370382	hsa-miR-345	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370384	hsa-miR-3942-3p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370386	hsa-miR-4277	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370391	hsa-miR-4697-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370394	hsa-miR-4727-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370396	hsa-miR-513a-3p	CLIP-seq
MIRT1370397	hsa-miR-513c	CLIP-seq
MIRT1370398	hsa-miR-514b-5p	CLIP-seq
MIRT1370399	hsa-miR-520a-5p	CLIP-seq
MIRT1370400	hsa-miR-525-5p	CLIP-seq
MIRT1370401	hsa-miR-661	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370376	hsa-miR-223	CLIP-seq
MIRT1370402	hsa-miR-2277-3p	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT1370404	hsa-miR-3121-5p	CLIP-seq
MIRT1370382	hsa-miR-345	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370386	hsa-miR-4277	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370391	hsa-miR-4697-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370396	hsa-miR-513a-3p	CLIP-seq
MIRT1370397	hsa-miR-513c	CLIP-seq
MIRT1370398	hsa-miR-514b-5p	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370372	hsa-miR-1827	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT2109957	hsa-miR-30a	CLIP-seq
MIRT2109958	hsa-miR-30b	CLIP-seq
MIRT2109959	hsa-miR-30c	CLIP-seq
MIRT2109960	hsa-miR-30d	CLIP-seq
MIRT2109961	hsa-miR-30e	CLIP-seq
MIRT1370380	hsa-miR-3180-5p	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370396	hsa-miR-513a-3p	CLIP-seq
MIRT1370399	hsa-miR-520a-5p	CLIP-seq
MIRT1370400	hsa-miR-525-5p	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq
MIRT1370368	hsa-miR-1254	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370372	hsa-miR-1827	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370376	hsa-miR-223	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT1370379	hsa-miR-3116	CLIP-seq
MIRT1370404	hsa-miR-3121-5p	CLIP-seq
MIRT1370380	hsa-miR-3180-5p	CLIP-seq
MIRT1370382	hsa-miR-345	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370386	hsa-miR-4277	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370391	hsa-miR-4697-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370397	hsa-miR-513c	CLIP-seq
MIRT1370398	hsa-miR-514b-5p	CLIP-seq
MIRT1370399	hsa-miR-520a-5p	CLIP-seq
MIRT1370400	hsa-miR-525-5p	CLIP-seq
MIRT1370401	hsa-miR-661	CLIP-seq
MIRT1370384	hsa-miR-3942-3p	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT2459983	hsa-miR-1252	CLIP-seq
MIRT2459984	hsa-miR-548aa	CLIP-seq
MIRT2627611	hsa-miR-186	CLIP-seq
MIRT2627612	hsa-miR-216b	CLIP-seq
MIRT1370402	hsa-miR-2277-3p	CLIP-seq
MIRT2627613	hsa-miR-2355-3p	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT2627614	hsa-miR-3187-3p	CLIP-seq
MIRT1370384	hsa-miR-3942-3p	CLIP-seq
MIRT2627615	hsa-miR-4263	CLIP-seq
MIRT2627616	hsa-miR-4292	CLIP-seq
MIRT2627617	hsa-miR-4308	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT2627618	hsa-miR-4435	CLIP-seq
MIRT2627619	hsa-miR-4529-5p	CLIP-seq
MIRT2627620	hsa-miR-4646-3p	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT2627621	hsa-miR-4690-5p	CLIP-seq
MIRT2627622	hsa-miR-4701-5p	CLIP-seq
MIRT2627623	hsa-miR-4795-3p	CLIP-seq
MIRT2627624	hsa-miR-494	CLIP-seq
MIRT2627625	hsa-miR-548n	CLIP-seq
MIRT2627626	hsa-miR-548s	CLIP-seq
MIRT2627627	hsa-miR-548t	CLIP-seq
MIRT2627628	hsa-miR-576-5p	CLIP-seq
MIRT2627629	hsa-miR-588	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq
MIRT2627630	hsa-miR-664	CLIP-seq
MIRT2627631	hsa-miR-944	CLIP-seq
MIRT2627611	hsa-miR-186	CLIP-seq
MIRT2627612	hsa-miR-216b	CLIP-seq
MIRT1370402	hsa-miR-2277-3p	CLIP-seq
MIRT2627613	hsa-miR-2355-3p	CLIP-seq
MIRT2691352	hsa-miR-3074-3p	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT2627614	hsa-miR-3187-3p	CLIP-seq
MIRT2691353	hsa-miR-3924	CLIP-seq
MIRT2627615	hsa-miR-4263	CLIP-seq
MIRT2627616	hsa-miR-4292	CLIP-seq
MIRT2627617	hsa-miR-4308	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT2627618	hsa-miR-4435	CLIP-seq
MIRT2627619	hsa-miR-4529-5p	CLIP-seq
MIRT2627620	hsa-miR-4646-3p	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT2627622	hsa-miR-4701-5p	CLIP-seq
MIRT2627623	hsa-miR-4795-3p	CLIP-seq
MIRT2627626	hsa-miR-548s	CLIP-seq
MIRT2627628	hsa-miR-576-5p	CLIP-seq
MIRT2627629	hsa-miR-588	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Unknown	22036566

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12270938, 20147459
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12270938
GO:0001657	Process	Ureteric bud development	IEA
GO:0001710	Process	Mesodermal cell fate commitment	IEA
GO:0002051	Process	Osteoblast fate commitment	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9389648
GO:0005515	Function	Protein binding	IPI	9436979, 11278251, 11779505, 15231748, 15647271, 15781469, 16882717, 17183365, 17292623, 17785517, 18045539, 18548003, 19914168, 20937913, 21453705, 21708152, 21947082, 24412244, 24554596, 25241761, 25755279, 26878725, 28514442, 31467278, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	8653785, 9389648
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	NAS	9759503
GO:0005634	Component	Nucleus	TAS	19018011
GO:0005637	Component	Nuclear inner membrane	IDA	15647271
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	9389648
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	NAS	9759503
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	NAS	8663601
GO:0007183	Process	SMAD protein complex assembly	IDA	9111321
GO:0007276	Process	Gamete generation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA	21873635
GO:0009880	Process	Embryonic pattern specification	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	19664780
GO:0016021	Component	Integral component of membrane	NAS	8663601
GO:0016579	Process	Protein deubiquitination	TAS
GO:0017151	Function	DEAD/H-box RNA helicase binding	IPI	18548003
GO:0019901	Function	Protein kinase binding	IPI	12874272
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 9389648, 18548003
GO:0030509	Process	BMP signaling pathway	IMP	19664780
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030509	Process	BMP signaling pathway	TAS	19018011
GO:0030901	Process	Midbrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031053	Process	Primary miRNA processing	TAS	19018011
GO:0032991	Component	Protein-containing complex	IDA	23610558
GO:0042592	Process	Homeostatic process	IEA
GO:0042802	Function	Identical protein binding	IPI	9111321, 11779505, 15231748
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IC	19664780
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12270938
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060348	Process	Bone development	IEA
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0060395	Process	SMAD protein signal transduction	ISS
GO:0060395	Process	SMAD protein signal transduction	NAS	14687659
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0070410	Function	Co-SMAD binding	IPI	9111321
GO:0070411	Function	I-SMAD binding	IBA	21873635
GO:0070411	Function	I-SMAD binding	IPI	9436979
GO:0070878	Function	Primary miRNA binding	IEA
GO:0071141	Component	SMAD protein complex	NAS	14687659
GO:0071144	Component	Heteromeric SMAD protein complex	IBA	21873635
GO:0071407	Process	Cellular response to organic cyclic compound	IEA
GO:1901522	Process	Positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS
GO:1902895	Process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IEA
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IMP	24047927

Other IDs

• MIM: 601595
• HGNC: 6767
• e!Ensembl: ENSG00000170365

Protein

• UniProt ID: Q15797
• Protein name: Mothers against decapentaplegic homolog 1 (MAD homolog 1) (Mothers against DPP homolog 1) (JV4-1) (Mad-related protein 1) (SMAD family member 1) (SMAD 1) (Smad1) (hSMAD1) (Transforming growth factor-beta-signaling protein 1) (BSP-1)
• Protein function: Transcriptional modulator that plays a role in various cellular processes, including embryonic development, cell differentiation, and tissue homeostasis (PubMed:9335504). Upon BMP ligand binding to their receptors at the cell surface, is phospho
• PDB: 1KHU, 2LAW, 2LAX, 2LAY, 2LAZ, 2LB0, 2LB1, 3Q47, 3Q4A, 5ZOK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03165	MH1	30 → 131	MH1 domain	Domain
  PF03166	MH2	269 → 441	MH2 domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highest expression seen in the heart and skeletal muscle.
• Sequence:

  MNVTSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEELEKALSCPGQ
  PSNCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSKQKEV
  CINPYHYKRVESPVLPPVLVPRHSEYNPQHSLLAQFRNLGQNEPHMPLNATFPDSFQQPN
  SHPFPHSPNSSYPNSPGSSSSTYPHSPTSSDPGSPFQMPADTPPPAYLPPEDPMTQDGSQ
  PMDTNMMAPPLPSEINRGDVQAVAYEEPKHWCSIVYYELNNRVGEAFHASSTSVLVDGFT
  DPSNNKNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNC
  NYHHGFHPTTVCKIPSGCSLKIFNNQEFAQLLAQSVNHGFETVYELTKMCTIRMSFVKGW
  GAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS

• Sequence length: 465

Pathways

KEGG:

Hormone signaling
TGF-beta signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Transcriptional misregulation in cancer

Reactome:

Signaling by BMP
Ub-specific processing proteases
RUNX2 regulates bone development

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954	29650961
Pulmonary hypertension	Idiopathic pulmonary hypertension, Familial primary pulmonary hypertension	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748, rs137852749, rs137852750, rs137852751, rs137852752, rs137852753, rs483352902, rs137852756, rs1559129372, rs587777017, rs879255566, rs397514716, rs398123039, rs398123041, rs398123042, rs398123043, rs199475679, rs587780295, rs863223423, rs863223426, rs863223424, rs863223420, rs863223422, rs758683062, rs869025366, rs869025367, rs876657748, rs878854272, rs886039219, rs886039223, rs886039220, rs886039221, rs886039222, rs886039673, rs886041324, rs369061090, rs200214298, rs758724746, rs1060502576, rs1060502581, rs1060502584, rs1064794258, rs1085307144, rs1085307145, rs1085307146, rs1085307148, rs1085307147, rs1085307149, rs1085307150, rs1085307151, rs1085307152, rs1085307153, rs1085307154, rs370120266, rs1085307155, rs1085307156, rs1085307157, rs1085307158, rs1085307159, rs1085307160, rs1085307161, rs1085307162, rs1085307163, rs1085307164, rs1085307165, rs1085307166, rs1085307169, rs1085307170, rs1085307171, rs1085307172, rs1553503200, rs1085307173, rs1085307174, rs1085307175, rs1085307176, rs1085307177, rs1085307178, rs1085307179, rs1085307180, rs1085307181, rs1085307182, rs1085307184, rs1085307185, rs1085307186, rs1085307187, rs1085307188, rs1085307190, rs1085307191, rs1553503473, rs1085307192, rs368090069, rs1085307193, rs1085307194, rs1085307195, rs1085307196, rs1085307197, rs1085307198, rs1085307199, rs1085307201, rs1085307202, rs1085307203, rs1085307204, rs1085307205, rs1085307208, rs1085307209, rs1085307210, rs1085307211, rs1085307212, rs1085307213, rs1085307214, rs1085307215, rs1085307216, rs1085307217, rs1085307219, rs1085307220, rs1085307221, rs1085307222, rs1085307223, rs1085307224, rs1085307225, rs1085307226, rs1085307227, rs1085307228, rs1085307229, rs1085307230, rs1085307231, rs1085307232, rs1085307233, rs1085307234, rs1085307235, rs1085307236, rs1085307237, rs1085307239, rs1085307240, rs1085307242, rs1085307243, rs1085307245, rs1085307246, rs1085307247, rs1085307248, rs1085307249, rs1085307250, rs1085307251, rs1085307252, rs1085307253, rs1085307254, rs1085307255, rs1085307256, rs1085307257, rs1085307258, rs1085307259, rs1085307260, rs1085307261, rs1085307262, rs1085307263, rs1085307265, rs1085307266, rs1085307267, rs1085307268, rs576091247, rs1085307269, rs1085307270, rs1085307271, rs1085307272, rs200948870, rs1085307273, rs1085307275, rs1085307276, rs1085307277, rs1085307278, rs1085307279, rs1085307281, rs1085307282, rs1085307283, rs1085307284, rs1085307285, rs1085307286, rs1085307287, rs1085307290, rs1085307291, rs1085307292, rs1085307294, rs1085307295, rs1085307296, rs1085307297, rs1085307298, rs1085307301, rs748230358, rs1085307303, rs1085307304, rs1085307306, rs1085307307, rs1085307308, rs1085307311, rs946132834, rs1085307313, rs1085307315, rs1085307316, rs1085307317, rs1085307318, rs1553509997, rs1085307319, rs1085307320, rs1085307321, rs1085307322, rs1085307324, rs1085307325, rs1085307326, rs1085307327, rs1085307328, rs767070218, rs1085307329, rs1085307330, rs1085307331, rs1085307332, rs1085307333, rs1085307334, rs1085307335, rs1085307336, rs1085307337, rs1085307338, rs868369541, rs1085307339, rs1085307340, rs1085307342, rs1085307343, rs1085307344, rs1085307345, rs1085307346, rs1085307347, rs1085307348, rs1085307349, rs1085307350, rs1085307351, rs1085307352, rs1085307353, rs937502048, rs1085307355, rs1085307356, rs1085307357, rs1085307358, rs1085307359, rs1085307360, rs1085307361, rs1085307362, rs780722371, rs1085307363, rs1085307365, rs1085307366, rs759990771, rs765887545, rs777458559, rs1085307369, rs1085307370, rs1085307371, rs1085307372, rs759293027, rs1085307373, rs1085307374, rs1085307375, rs1085307376, rs1085307377, rs1085307378, rs1085307379, rs1085307380, rs1085307381, rs1085307382, rs1085307383, rs1085307384, rs1085307385, rs1085307386, rs1085307387, rs1085307389, rs1085307388, rs1085307390, rs1085307391, rs1085307392, rs1085307393, rs1085307394, rs1085307395, rs1006246556, rs1085307396, rs1085307397, rs1085307398, rs1085307399, rs1085307400, rs769603144, rs1085307401, rs1085307402, rs1085307403, rs1085307438, rs1085307436, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288, rs1085307183, rs1085307218, rs1085307238, rs1085307302, rs1085307310, rs772497399, rs1326644714, rs1553509984, rs1553508321, rs1288123680, rs1375304341, rs1553509983, rs770716081, rs1553387422, rs1555883342, rs754897911, rs1553512225, rs1275489342, rs202107577, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs767575696, rs1374322297, rs1559073178, rs1559062859, rs1574505369, rs1574506470, rs1574506949, rs201716417, rs767694281, rs1574548003, rs1603248606, rs1603255224, rs1574464060, rs1574506914, rs1603248167, rs1603255327, rs1603256095, rs1574499954, rs1692288591, rs1687663690, rs1688559190, rs1698355880, rs1264586092	29650961

Unknown
Disease term	Disease name	Evidence	References	Source
Panic Disorder	Panic Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenoma	Associate	18008360
Alzheimer Disease	Associate	36764297
Aortic Valve Disease	Associate	23968872
Arteriovenous Malformations	Inhibit	36198763
Arthritis Rheumatoid	Associate	26215036, 30046030
Breast Neoplasms	Associate	36194598
Bronchiolitis Obliterans Syndrome	Associate	26476349
Burkitt Lymphoma	Associate	12967475
Carcinoma Non Small Cell Lung	Associate	23154546
Carcinoma Ovarian Epithelial	Associate	34110955
Carcinoma Renal Cell	Associate	28199984
Chondrosarcoma	Associate	23088614
Colorectal Neoplasms	Associate	16769811, 21068203, 31545230, 32921281, 37373155
Coronary Artery Disease	Associate	28595632, 28604383
Diabetes Mellitus	Associate	19539633
Esophageal Neoplasms	Associate	19360286
Esophageal Neoplasms	Stimulate	34725559
Fetal Growth Retardation	Associate	25942476
Fibrosis	Associate	26476349, 30729664
Glioblastoma	Associate	25165192
Glioma	Associate	25165192, 31858559, 34104086
Heart Defects Congenital	Associate	35281600
Hypoxia	Inhibit	20336693
Idiopathic Pulmonary Fibrosis	Associate	32126996
Infections	Stimulate	28794048
Inflammation	Stimulate	26778533
Intracranial Arteriovenous Malformations	Inhibit	36198763
Juvenile polyposis syndrome	Associate	10446110
Keratoacanthoma	Associate	19671862
Keratoconus	Associate	25247416
Leukemia Lymphocytic Chronic B Cell	Stimulate	28349818
Lymphoma B Cell	Associate	21092277
Lymphoma Large B Cell Diffuse	Associate	12967475, 23955273
Multiple Myeloma	Associate	35297204, 36717825
Multiple Sclerosis	Associate	35281467
Myelodysplastic Syndromes	Associate	36629404
Myositis Ossificans	Associate	27530160
Neoplasm Metastasis	Associate	31858559, 36800542
Neoplasms	Associate	23088614, 23676460, 34725559, 36800542, 36928315
Neoplasms	Inhibit	28731456
Neuroendocrine Tumors	Associate	23676460
Neurofibrosarcoma	Associate	23423222, 27494873
Osteoarthritis	Associate	26778533, 37652257
Osteosarcoma	Associate	22868198
Ovarian Neoplasms	Associate	19996292
Pancreatic Neoplasms	Associate	19056927
Phenylketonurias	Associate	15845886
Polycystic Ovary Syndrome	Associate	37930517
Prostatic Neoplasms	Associate	17496924, 17579118, 18942118
Pulmonary Arterial Hypertension	Associate	30274147, 32126996, 32934261
Squamous Cell Carcinoma of Head and Neck	Associate	28035402
Status Asthmaticus	Associate	34257337
Stomach Neoplasms	Associate	34138687
Vascular Calcification	Associate	27419135, 29895327, 34954251