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Smad7 Gene Detail
Summary
  • Symbol
    Smad7
  • Name
    SMAD family member 7
  • Synonyms
    Madh7
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100518
    NCBI Gene: 17131
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:75500600-75529006 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 51.06 cM, cytoband E2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    734 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100518
 protein coding gene Chr18:75500436-75529006 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024564
 protein coding gene Chr18:76069192-76097824 (+)
A/J MGP_AJ_G0024531
 protein coding gene Chr18:72741649-72770149 (+)
AKR/J MGP_AKRJ_G0024502
 protein coding gene Chr18:74921037-74949367 (+)
BALB/cJ MGP_BALBcJ_G0024531
 protein coding gene Chr18:72939702-72968785 (+)
C3H/HeJ MGP_C3HHeJ_G0024299
 protein coding gene Chr18:75006579-75036636 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024977
 protein coding gene Chr18:78057233-78085754 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022407
 protein coding gene Chr18:71796423-71825414 (+)
CAST/EiJ MGP_CASTEiJ_G0023772
 protein coding gene Chr18:75209666-75238594 (+)
CBA/J MGP_CBAJ_G0024268
 protein coding gene Chr18:80761594-80792206 (+)
DBA/2J MGP_DBA2J_G0024398
 protein coding gene Chr18:72327493-72356012 (+)
FVB/NJ MGP_FVBNJ_G0024364
 protein coding gene Chr18:71675743-71704381 (+)
LP/J MGP_LPJ_G0024482
 protein coding gene Chr18:75934388-75966040 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024394
 protein coding gene Chr18:82163603-82193115 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025025
 protein coding gene Chr18:75040154-75068607 (+)
PWK/PhJ MGP_PWKPhJ_G0023516
 protein coding gene Chr18:72719719-72749548 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023320
 protein coding gene Chr18:75191009-75220263 (+)
WSB/EiJ MGP_WSBEiJ_G0023835
 protein coding gene Chr18:74983710-75015169 (+)



Homology
more
  • Human Ortholog
    SMAD7, SMAD family member 7
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMAD7, SMAD family member 7
  • Synonyms
    CRCS3, MADH7, MADH8
  • Links
    NCBI Gene ID: 4092
    neXtProt AC: NX_O15105
    UniProt: O15105

  • Chr Location
    18q21.1; chr18:48919853-48950965 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SMAD7 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    49 phenotypes from 9 alleles in 10 genetic backgrounds
    6 phenotypes from multigenic genotypes
    4 images
    51 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.
Mice homozygous for a hypomorphic allele display partial penetrance of prenatal lethality, reduced body size and weight, smaller litter size and B cell abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    98
  • GO References
    22
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
    858
  • Tissues
    75
  • cDNA Data
    32
  • Literature Summary
    52
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025880 Ensembl Gene Model | MGI Sequence Detail 28407 C57BL/6J ±  kb
    transcript ENSMUST00000026999 Ensembl | MGI Sequence Detail 4278 Not Applicable  
    polypeptide ENSMUSP00000026999 Ensembl | MGI Sequence Detail 426 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 35
      Primer pair 5
      Other 5

      Microarray probesets 3
    References
    more
    • Summaries
      All 209
      Developmental Gene Expression 52
      Gene Ontology 22
      Phenotypes 51
    • Earliest
      J:43278 Nakao A, et al., Identification of Smad7, a TGFbeta-inducible antagonist of TGF-beta signalling [see comments]. Nature. 1997 Oct 9;389(6651):631-5
    • Latest
      J:335096 Rajderkar S, et al., Topologically associating domain boundaries are required for normal genome function. Commun Biol. 2023 Apr 20;6(1):435
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory