// Workers AI · dad joke modeWhat did SMAD5 say to its date? You're a smad match.

SMAD5
Identifiers
Aliases	SMAD5, DWFC, JV5-1, MADH5, SMAD family member 5
External IDs	OMIM: 603110; MGI: 1328787; HomoloGene: 4313; GeneCards: SMAD5; OMA:SMAD5 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q31.1 Start 136,132,845 bp End 136,188,747 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 B1|13 30.12 cM Start 56,850,823 bp End 56,890,190 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of paranasal sinus caput epididymis tail of epididymis lactiferous duct corpus epididymis nipple germinal epithelium superficial temporal artery Achilles tendon skin of hip Top expressed in genital tubercle ventricular zone tail of embryo mandibular prominence maxillary prominence Paneth cell stroma of kidney ureter medial ganglionic eminence hair follicle More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity metal ion binding protein binding ubiquitin protein ligase binding DEAD/H-box RNA helicase binding RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component SMAD protein complex transcription regulator complex intracellular anatomical structure nucleoplasm nucleus cytoplasm cytosol protein-containing complex Biological process germ cell development ureteric bud development cardiac muscle contraction regulation of transcription, DNA-templated SMAD protein signal transduction embryonic pattern specification ossification cellular response to organic cyclic compound cellular response to BMP stimulus BMP signaling pathway transcription, DNA-templated positive regulation of transcription, DNA-templated Mullerian duct regression protein phosphorylation cartilage development positive regulation of osteoblast differentiation erythrocyte differentiation bone development transforming growth factor beta receptor signaling pathway signal transduction positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus positive regulation of transcription by RNA polymerase II osteoblast fate commitment negative regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4090 17129 Ensembl ENSG00000113658 ENSMUSG00000021540 UniProt Q99717 P97454 RefSeq (mRNA) NM_005903 NM_001001419 NM_001001420 NM_001164041 NM_001164042 NM_008541 RefSeq (protein) NP_001001419 NP_001001420 NP_005894 NP_001157513 NP_001157514 NP_032567 Location (UCSC) Chr 5: 136.13 – 136.19 Mb Chr 13: 56.85 – 56.89 Mb PubMed search
Wikidata
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Mothers against decapentaplegic homolog 5 also known as SMAD5 is a protein that in humans is encoded by the SMAD5 gene.

SMAD5, as its name describes, is a homolog of the Drosophila gene: "Mothers against decapentaplegic", based on a tradition of such unusual naming within the gene research community. It belongs to the SMAD family of proteins, which belong to the TGFβ superfamily of modulators. Like many other TGFβ family members SMAD5 is involved in cell signalling and modulates signals of bone morphogenetic proteins (BMP's). The binding of ligands causes the oligomerization and phosphorylation of the SMAD5 protein. SMAD5 is a receptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase. It may play a role in the pathway where TGFβ is an inhibitor of hematopoietic progenitor cells.

Clinical Significance

Variants of SMAD5 are associated with congenital heart disease. They have autosomal dominant inheritance due to either haploinsufficiency or dominant-negative effect.