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

Gene ID: 176229, updated on 2-Nov-2024

Summary

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, Nov 2024]
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Genomic context

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001382944.1NP_001370321.1  Dwarfin sma-2 [Caenorhabditis elegans]

    Status: REVIEWED

    UniProtKB/Swiss-Prot
    Q02329, Q02330
    Conserved Domains (2) summary
    cd10495
    Location:222405
    MH2_R-SMAD; C-terminal Mad Homology 2 (MH2) domain in receptor regulated SMADs
    cl00055
    Location:5130
    MH1; N-terminal Mad Homology 1 (MH1) domain
  2. NM_001372636.2NP_001360602.1  MH2 domain-containing protein [Caenorhabditis elegans]

    Status: REVIEWED

    UniProtKB/TrEMBL
    A0A4V0IIJ7
    Conserved Domains (1) summary
    cd10495
    Location:68251
    MH2_R-SMAD; C-terminal Mad Homology 2 (MH2) domain in receptor regulated SMADs