Smad2 SMAD family member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smad2provided by MGI
Official Full Name: SMAD family member 2provided by MGI
Primary source: MGI:MGI:108051
See related: Ensembl:ENSMUSG00000024563 AllianceGenome:MGI:108051
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Madh2; Madr2; mMad2; Smad-2; 7120426M23Rik
Summary: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; identical protein binding activity; and tau protein binding activity. Involved in several processes, including heart development; odontoblast differentiation; and positive regulation of epithelial to mesenchymal transition. Acts upstream of or within several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; embryonic morphogenesis; and regulation of gene expression. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 6; Lynch syndrome; cervical cancer; and ovarian cancer. Orthologous to human SMAD2 (SMAD family member 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 7.1), bladder adult (RPKM 6.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E3; 18 51.42 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (76369898..76444819)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (76241090..76311748)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP7 Promotes TGF-beta1 Signaling by De-Ubiquitinating Smad2/Smad3 in Pulmonary Fibrosis.
Title: USP7 Promotes TGF-β1 Signaling by De-Ubiquitinating Smad2/Smad3 in Pulmonary Fibrosis.
Thbs1 regulates skeletal muscle mass in a TGFbeta-Smad2/3-ATF4-dependent manner.
Title: Thbs1 regulates skeletal muscle mass in a TGFβ-Smad2/3-ATF4-dependent manner.
Impact of SMAD2 and MET Expression on Lymph Node Metastasis of HER2-positive Gastric Cancer Cells.
Title: Impact of SMAD2 and MET Expression on Lymph Node Metastasis of HER2-positive Gastric Cancer Cells.
Activin A/ACVR2A axis inhibits epithelial-to-mesenchymal transition in colon cancer by activating SMAD2.
Title: Activin A/ACVR2A axis inhibits epithelial-to-mesenchymal transition in colon cancer by activating SMAD2.
Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas.
Title: Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas.
Differential effects of Smad2 and Smad3 in regulation of macrophage phenotype and function in the infarcted myocardium.
Title: Differential effects of Smad2 and Smad3 in regulation of macrophage phenotype and function in the infarcted myocardium.
LINC00657 regulate colorectal carcinoma invasion and migration by enhancing heparanase expression through recruiting SMAD family member 2.
Title: LINC00657 regulate colorectal carcinoma invasion and migration by enhancing heparanase expression through recruiting SMAD family member 2.
miR-152-3p Represses the Proliferation of the Thymic Epithelial Cells by Targeting Smad2.
Title: miR-152-3p Represses the Proliferation of the Thymic Epithelial Cells by Targeting Smad2.
Smad2 and Smad3 expressed in skeletal muscle promote immobilization-induced bone atrophy in mice.
Title: Smad2 and Smad3 expressed in skeletal muscle promote immobilization-induced bone atrophy in mice.
beta-cell Smad2 null mice have improved beta-cell function and are protected from diet-induced hyperglycemia.
Title: β-cell Smad2 null mice have improved β-cell function and are protected from diet-induced hyperglycemia.

Submit: New GeneRIF Correction See all GeneRIFs (202)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (23) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC23005P1 (e-PCR)
- UniSTS:272177

Smad2 (e-PCR), detects polymorphism
- UniSTS:547920

MARC_10275-10276:998924078:1 (e-PCR)
- UniSTS:267092

Smad2 (e-PCR), detects polymorphism
- UniSTS:466570

NoName (e-PCR)
- UniSTS:548547

AA858489 (e-PCR)
- UniSTS:243402

BE686745 (e-PCR)
- UniSTS:209400

RH126504 (e-PCR)
- UniSTS:209401

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
contributes_to DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables I-SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables I-SMAD binding	IEA Inferred from Electronic Annotation more info
enables I-SMAD binding	ISO Inferred from Sequence Orthology more info
enables R-SMAD binding	IEA Inferred from Electronic Annotation more info
enables R-SMAD binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables SMAD binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables co-SMAD binding	IEA Inferred from Electronic Annotation more info
enables co-SMAD binding	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	IEA Inferred from Electronic Annotation more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatase binding	IEA Inferred from Electronic Annotation more info
enables phosphatase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tau protein binding	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables type I transforming growth factor beta receptor binding	IEA Inferred from Electronic Annotation more info
enables type I transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in SMAD protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within SMAD protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info	PubMed
involved_in SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adrenal gland development	IEA Inferred from Electronic Annotation more info
involved_in adrenal gland development	ISO Inferred from Sequence Orthology more info
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aortic valve morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right asymmetry in lateral mesoderm	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right asymmetry in lateral mesoderm	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within developmental growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic foregut morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endocardial cushion morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endoderm development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lung development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nodal signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in nodal signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in odontoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within organ growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pancreas development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within paraxial mesoderm morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pericardium development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in pulmonary valve morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of binding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in response to cholesterol	IEA Inferred from Electronic Annotation more info
involved_in response to cholesterol	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to glucose	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to transforming growth factor beta	IGI Inferred from Genetic Interaction more info	PubMed
involved_in secondary palate development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in signal transduction involved in regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in transforming growth factor beta receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in ureteric bud development	IEP Inferred from Expression Pattern more info	PubMed
involved_in zygotic specification of dorsal/ventral axis	IEA Inferred from Electronic Annotation more info
involved_in zygotic specification of dorsal/ventral axis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of SMAD protein complex	ISO Inferred from Sequence Orthology more info
part_of activin responsive factor complex	IEA Inferred from Electronic Annotation more info
part_of activin responsive factor complex	ISO Inferred from Sequence Orthology more info
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
part_of heteromeric SMAD protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of heteromeric SMAD protein complex	ISO Inferred from Sequence Orthology more info
part_of heteromeric SMAD protein complex	NAS Non-traceable Author Statement more info	PubMed
part_of homomeric SMAD protein complex	IEA Inferred from Electronic Annotation more info
part_of homomeric SMAD protein complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mothers against decapentaplegic homolog 2

Names: MAD homolog 2; Smad 2; mad-related protein 2; mothers against DPP homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001252481.1 → NP_001239410.1 mothers against decapentaplegic homolog 2 isoform 1

See identical proteins and their annotated locations for NP_001239410.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC164009

Consensus CDS

CCDS29350.1

UniProtKB/Swiss-Prot

Q62432, Q6GU18, Q6VP00, Q9D8P6

UniProtKB/TrEMBL

E9Q3M0

Related

ENSMUSP00000025453.9, ENSMUST00000025453.15

Conserved Domains (2) summary

cd10491
Location:8 → 172

MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3

cd10985
Location:266 → 456

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
NM_001311070.1 → NP_001297999.1 mothers against decapentaplegic homolog 2 isoform 2

See identical proteins and their annotated locations for NP_001297999.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has a shorter 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC164009, AK007817, AK078612, AY334552, BC058713, BM248478

Consensus CDS

CCDS79664.1

UniProtKB/TrEMBL

E9Q3M0

Related

ENSMUSP00000109563.3, ENSMUST00000113930.3

Conserved Domains (2) summary

cd10491
Location:8 → 142

MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3

cd10985
Location:236 → 426

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
NM_010754.5 → NP_034884.2 mothers against decapentaplegic homolog 2 isoform 1

See identical proteins and their annotated locations for NP_034884.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AC164009, AK007817, BC058713, BM248478, BU058005, CN456711

Consensus CDS

CCDS29350.1

UniProtKB/Swiss-Prot

Q62432, Q6GU18, Q6VP00, Q9D8P6

UniProtKB/TrEMBL

E9Q3M0

Related

ENSMUSP00000130115.2, ENSMUST00000168423.9

Conserved Domains (2) summary

cd10491
Location:8 → 172

MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3

cd10985
Location:266 → 456

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

76369898..76444819

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017317842.3 → XP_017173331.1 mothers against decapentaplegic homolog 2 isoform X2

UniProtKB/TrEMBL

E9Q3M0

Related

ENSMUSP00000089439.7, ENSMUST00000091831.13

Conserved Domains (2) summary

cd10491
Location:8 → 142

MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3

cd10985
Location:236 → 426

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
XM_030250351.1 → XP_030106211.1 mothers against decapentaplegic homolog 2 isoform X2

UniProtKB/TrEMBL

E9Q3M0

Conserved Domains (2) summary

cd10491
Location:8 → 142

MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3

cd10985
Location:236 → 426

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
XM_006525699.4 → XP_006525762.1 mothers against decapentaplegic homolog 2 isoform X1

See identical proteins and their annotated locations for XP_006525762.1

UniProtKB/Swiss-Prot

Q62432, Q6GU18, Q6VP00, Q9D8P6

UniProtKB/TrEMBL

E9Q3M0

Conserved Domains (2) summary

cd10491
Location:8 → 172

MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3

cd10985
Location:266 → 456

MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3