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Smad4 Gene Detail
Summary
  • Symbol
    Smad4
  • Name
    SMAD family member 4
  • Synonyms
    D18Wsu70e, Dpc4, DPC4, Madh4, Smad 4
  • Feature Type
    protein coding gene
  • IDs
    MGI:894293
    NCBI Gene: 17128
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:73772080-73836851 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 49.51 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1107 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_894293
 protein coding gene Chr18:73767861-73836862 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024548
 protein coding gene Chr18:74223204-74290384 (-)
A/J MGP_AJ_G0024515
 protein coding gene Chr18:71000999-71057242 (-)
AKR/J MGP_AKRJ_G0024486
 protein coding gene Chr18:73101146-73161366 (-)
BALB/cJ MGP_BALBcJ_G0024515
 protein coding gene Chr18:71173834-71231444 (-)
C3H/HeJ MGP_C3HHeJ_G0024283
 protein coding gene Chr18:73195425-73252485 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024961
 protein coding gene Chr18:76186294-76245310 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022392
 protein coding gene Chr18:70101668-70157098 (-)
CAST/EiJ MGP_CASTEiJ_G0023756
 protein coding gene Chr18:73364769-73424629 (-)
CBA/J MGP_CBAJ_G0024252
 protein coding gene Chr18:78777206-78839972 (-)
DBA/2J MGP_DBA2J_G0024382
 protein coding gene Chr18:70598262-70652746 (-)
FVB/NJ MGP_FVBNJ_G0024348
 protein coding gene Chr18:69936098-69992507 (-)
LP/J MGP_LPJ_G0024466
 protein coding gene Chr18:74104488-74166564 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024378
 protein coding gene Chr18:80272568-80330291 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025009
 protein coding gene Chr18:73226177-73288796 (-)
PWK/PhJ MGP_PWKPhJ_G0023500
 protein coding gene Chr18:70956965-71012939 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023305
 protein coding gene Chr18:73372774-73434259 (-)
WSB/EiJ MGP_WSBEiJ_G0023819
 protein coding gene Chr18:73174907-73235191 (-)



Homology
more
  • Human Ortholog
    SMAD4, SMAD family member 4
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMAD4, SMAD family member 4
  • Synonyms
    DPC4, JIP, MADH4, MYHRS
  • Links
    NCBI Gene ID: 4089
    neXtProt AC: NX_Q13485
    UniProt: Q13485

  • Chr Location
    18q21.2; chr18:51028528-51085045 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Smad4 mouse models; 10 with human SMAD4 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    155 phenotypes from 19 alleles in 28 genetic backgrounds
    55 phenotypes from multigenic genotypes
    8 images
    297 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 impaired formation of extraembryonic membrane and endoderm and die prior to gastrulation. Heterozygotes develop polyposis of the glandular stomach and duodenum.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    230
  • GO References
    60
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
    1057
  • Tissues
    145
  • cDNA Data
    21
  • Literature Summary
    103
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024515 Ensembl Gene Model | MGI Sequence Detail 64772 C57BL/6J ±  kb
    transcript ENSMUST00000025393 Ensembl | MGI Sequence Detail 3384 Not Applicable  
    polypeptide ENSMUSP00000025393 Ensembl | MGI Sequence Detail 551 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 5
      cDNA 24
      Primer pair 12
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-33955, MGI:106263, MGI:2147379
    References
    more
    • Summaries
      All 495
      Developmental Gene Expression 103
      Diseases 5
      Gene Ontology 60
      Phenotypes 297
    • Earliest
      J:40660 Anna CH, et al., Sequence and chromosomal mapping of the mouse homolog (Madh4) of the human DPC4/MADH4 gene. Mamm Genome. 1997 Jun;8(6):443-4
    • Latest
      J:354610 Xin X, et al., Hepatocyte-specific Smad4 deficiency inhibits hepatocarcinogenesis by promoting CXCL10/CXCR3-dependent CD8(+)- T cell-mediated anti-tumor immunity. Theranostics. 2024;14(15):5853-5868
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory