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Smad5 Gene Detail
Summary
  • Symbol
    Smad5
  • Name
    SMAD family member 5
  • Synonyms
    Madh5, MusMLP, Smad 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328787
    NCBI Gene: 17129
Location & Maps
more
  • Sequence Map
    Chr13:56703010-56742377 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39368 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 30.12 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    SMAD5, SMAD family member 5
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SMAD5, SMAD family member 5
    Orthology source: HomoloGene
  • Synonyms
    DWFC, JV5-1, MADH5
  • Links
    NCBI Gene ID: 4090
    neXtProt AC: NX_Q99717

  • Chr Location
    5q31; chr5:136132845-136182734 (+)  GRCh38.p2

Human Diseases
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  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    57 phenotypes from 4 alleles in 5 genetic backgrounds
    35 phenotypes from multigenic genotypes
    43 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    5
  • Genomic Mutations
    1 involving Smad5
  • Incidental Mutations
    APF
Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020956 VEGA Gene Model | MGI Sequence Detail 39368 C57BL/6J ±  kb
transcript OTTMUST00000049541 VEGA | MGI Sequence Detail 4570 Not Applicable  
polypeptide OTTMUSP00000022971 VEGA | MGI Sequence Detail 465 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    203 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 200
    cDNA 192
    Primer pair 7
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1923577, MGI:2145246
References
more
  • Summaries
    All 384
    Developmental Gene Expression 300
    Diseases 1
    Gene Ontology 23
    Phenotypes 43
  • Earliest
    J:51722 Yingling JM, et al., Mammalian dwarfins are phosphorylated in response to transforming growth factor beta and are implicated in control of cell growth. Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):8940-4
  • Latest
    J:233837 Canali S, et al., Activin B Induces Noncanonical SMAD1/5/8 Signaling via BMP Type I Receptors in Hepatocytes: Evidence for a Role in Hepcidin Induction by Inflammation in Male Mice. Endocrinology. 2016 Mar;157(3):1146-62

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory