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    sma-2 Dwarfin sma-2;MH2 domain-containing protein [ Caenorhabditis elegans ]

    Gene ID: 176229, updated on 9-Dec-2024

    Summary

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    Official Symbol
    sma-2
    Official Full Name
    Dwarfin sma-2;MH2 domain-containing protein
    Primary source
    WormBase:WBGene00004856
    Locus tag
    CELE_ZK370.2
    See related
    AllianceGenome:WB:WBGene00004856
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; I-SMAD binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including male anatomical structure morphogenesis; nematode pharynx development; and positive regulation of nematode male tail tip morphogenesis. Predicted to be located in cytoplasm and nucleus. Predicted to be part of heteromeric SMAD protein complex. Is expressed in head; pharynx; reproductive system; and seam cell. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome (multiple); Lynch syndrome; female reproductive organ cancer (multiple); pancreatic cancer; and primary pulmonary hypertension. Orthologous to several human genes including SMAD9 (SMAD family member 9). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See sma-2 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    11
    Sequence:
    Chromosome: III; NC_003281.10 (8749680..8757089)

    Chromosome III - NC_003281.10Genomic Context describing neighboring genes Neighboring gene DUF19 domain-containing protein Neighboring gene UDP-galactose translocator 1 Neighboring gene Mitochondrial import receptor subunit tomm-70 Neighboring gene ncRNA Neighboring gene 5'-AMP-activated protein kinase catalytic subunit alpha-1 Neighboring gene Chondroitin sulfate synthase mig-22 Neighboring gene Single-stranded DNA-binding protein, mitochondrial

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003281.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Somatic polyploidization and cellular proliferation drive body size evolution in nematodes. Flemming AJ, et al. Proc Natl Acad Sci U S A, 2000 May 9. PMID 10805788, Free PMC Article
    2. Single mammalian cells compensate for differences in cellular volume and DNA copy number through independent global transcriptional mechanisms. Padovan-Merhar O, et al. Mol Cell, 2015 Apr 16. PMID 25866248, Free PMC Article
    3. C. elegans DAF-16/FOXO interacts with TGF-ß/BMP signaling to induce germline tumor formation via mTORC1 activation. Qi W, et al. PLoS Genet, 2017 May. PMID 28549065, Free PMC Article
    4. From receptor to nucleus: the Smad pathway. Baker JC, et al. Curr Opin Genet Dev, 1997 Aug. PMID 9309176
    5. Identification of transforming growth factor-beta- regulated genes in caenorhabditis elegans by differential hybridization of arrayed cDNAs. Mochii M, et al. Proc Natl Acad Sci U S A, 1999 Dec 21. PMID 10611331, Free PMC Article

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Three Smad genes, sma-2, sma-3 and sma-4, are all required for signal transduction, suggesting that the functional complex could be a heterotrimer.
      Title: C-terminal mutants of C. elegans Smads reveal tissue-specific requirements for protein activation by TGF-beta signaling.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables I-SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nematode male tail mating organ morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nematode male tail tip morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nematode pharynx development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell growth IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of multicellular organism growth IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of nematode male tail tip morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-embryonic development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of developmental process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mesodermal cell fate specification IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of multicellular organismal process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of heteromeric SMAD protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Dwarfin sma-2;MH2 domain-containing protein
    NP_001360602.1
    • Partially confirmed by transcript evidence
    NP_001370321.1
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003281.10 Reference assembly

      Range
      8749680..8757089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001382944.1 → NP_001370321.1  Dwarfin sma-2 [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q02329, Q02330
      Conserved Domains (2) summary
      cd10495
      Location:222 → 405
      MH2_R-SMAD; C-terminal Mad Homology 2 (MH2) domain in receptor regulated SMADs
      cl00055
      Location:5 → 130
      MH1; N-terminal Mad Homology 1 (MH1) domain

    2. NM_001372636.2 → NP_001360602.1  MH2 domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A4V0IIJ7
      Conserved Domains (1) summary
      cd10495
      Location:68 → 251
      MH2_R-SMAD; C-terminal Mad Homology 2 (MH2) domain in receptor regulated SMADs
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02330.2

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