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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:56850823-56890190 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 30.12 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    907 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328787
 protein coding gene Chr13:56850804-56890191 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020623
 protein coding gene Chr13:56278865-56312534 (+)
A/J MGP_AJ_G0020577
 protein coding gene Chr13:54175724-54207906 (+)
AKR/J MGP_AKRJ_G0020555
 protein coding gene Chr13:55775073-55807575 (+)
BALB/cJ MGP_BALBcJ_G0020573
 protein coding gene Chr13:54414988-54447283 (+)
C3H/HeJ MGP_C3HHeJ_G0020372
 protein coding gene Chr13:55595455-55628633 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021007
 protein coding gene Chr13:57969867-58007545 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018589
 protein coding gene Chr13:52125989-52159051 (+)
CAST/EiJ MGP_CASTEiJ_G0019886
 protein coding gene Chr13:55718861-55751015 (+)
CBA/J MGP_CBAJ_G0020332
 protein coding gene Chr13:60190092-60224688 (+)
DBA/2J MGP_DBA2J_G0020455
 protein coding gene Chr13:53723365-53755600 (+)
FVB/NJ MGP_FVBNJ_G0020434
 protein coding gene Chr13:53196877-53230558 (+)
LP/J MGP_LPJ_G0020531
 protein coding gene Chr13:56522606-56554801 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020463
 protein coding gene Chr13:59585160-59618774 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021050
 protein coding gene Chr13:55372494-55408379 (+)
PWK/PhJ MGP_PWKPhJ_G0019642
 protein coding gene Chr13:53770900-53803988 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019469
 protein coding gene Chr13:54320411-54354505 (+)
WSB/EiJ MGP_WSBEiJ_G0019948
 protein coding gene Chr13:55742579-55778904 (+)



Homology
more
  • Human Ortholog
    SMAD5, SMAD family member 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMAD5, SMAD family member 5
  • Synonyms
    DWFC, JV5-1, MADH5
  • Links
    NCBI Gene ID: 4090
    neXtProt AC: NX_Q99717
    UniProt: Q99717

  • Chr Location
    5q31.1; chr5:136132845-136188747 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    58 phenotypes from 4 alleles in 6 genetic backgrounds
    45 phenotypes from multigenic genotypes
    58 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.
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
less
  • All GO Annotations
    74
  • GO References
    33
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1574
  • Tissues
    336
  • cDNA Data
    191
  • Literature Summary
    509
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021540 Ensembl Gene Model | MGI Sequence Detail 39368 C57BL/6J ±  kb
    transcript ENSMUST00000069557 Ensembl | MGI Sequence Detail 6584 Not Applicable  
    polypeptide ENSMUSP00000065798 Ensembl | MGI Sequence Detail 465 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 205
      cDNA 194
      Primer pair 10
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1923577, MGI:2145246
    References
    more
    • Summaries
      All 633
      Developmental Gene Expression 509
      Diseases 1
      Gene Ontology 33
      Phenotypes 58
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:354189 Miao L, et al., beta1 integrins regulate cellular behaviour and cardiomyocyte organization during ventricular wall formation. Cardiovasc Res. 2024 Sep 21;120(11):1279-1294
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory