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Spdef Gene Detail
Summary
  • Symbol
    Spdef
  • Name
    SAM pointed domain containing ets transcription factor
  • Synonyms
    PDEF, Pse
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353422
    NCBI Gene: 30051
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:27933326-27947929 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 14.59 cM, cytoband B1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    181 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353422
 protein coding gene Chr17:27933326-27949977 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023426
 protein coding gene Chr17:27040080-27055441 (-)
A/J MGP_AJ_G0023384
 protein coding gene Chr17:26179222-26193808 (-)
AKR/J MGP_AKRJ_G0023349
 protein coding gene Chr17:26347775-26362361 (-)
BALB/cJ MGP_BALBcJ_G0023389
 protein coding gene Chr17:26450596-26465164 (-)
C3H/HeJ MGP_C3HHeJ_G0023150
 protein coding gene Chr17:26721730-26736316 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023831
 protein coding gene Chr17:28164605-28179204 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021306
 protein coding gene Chr17:23562696-23578142 (-)
CAST/EiJ MGP_CASTEiJ_G0022651
 protein coding gene Chr17:26686942-26701628 (-)
CBA/J MGP_CBAJ_G0023124
 protein coding gene Chr17:29144956-29159528 (-)
DBA/2J MGP_DBA2J_G0023255
 protein coding gene Chr17:25740797-25755383 (-)
FVB/NJ MGP_FVBNJ_G0023225
 protein coding gene Chr17:25530799-25545385 (-)
LP/J MGP_LPJ_G0023333
 protein coding gene Chr17:27306197-27322531 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023243
 protein coding gene Chr17:28623442-28639287 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023873
 protein coding gene Chr17:26761439-26776038 (-)
PWK/PhJ MGP_PWKPhJ_G0022401
 protein coding gene Chr17:24536745-24551443 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022219
 protein coding gene Chr17:24766736-24783458 (-)
WSB/EiJ MGP_WSBEiJ_G0022713
 protein coding gene Chr17:26747457-26762030 (-)



Homology
more
  • Human Ortholog
    SPDEF, SAM pointed domain containing ETS transcription factor
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPDEF, SAM pointed domain containing ETS transcription factor
  • Synonyms
    bA375E1.3, PDEF
  • Links
    NCBI Gene ID: 25803
    neXtProt AC: NX_O95238
    UniProt: O95238

  • Chr Location
    6p21.31; chr6:34537802-34556333 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 3 alleles in 3 genetic backgrounds
    5 images
    19 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 null allele have reduced numbers of intestinal and respiratory mucosa goblet cells. Increased inflammation of the gastric antrum has also been seen.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    7
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
    901
  • Tissues
    179
  • cDNA Data
    28
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024215 Ensembl Gene Model | MGI Sequence Detail 14604 C57BL/6J ±  kb
    transcript ENSMUST00000025054 Ensembl | MGI Sequence Detail 1921 Not Applicable  
    polypeptide ENSMUSP00000025054 Ensembl | MGI Sequence Detail 325 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 28
      Primer pair 3
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 26
      Gene Ontology 7
      Phenotypes 19
    • Earliest
      J:59911 Yamada N, et al., Cloning and expression of the mouse Pse gene encoding a novel Ets family member. Gene. 2000 Jan 11;241(2):267-74
    • Latest
      J:336753 Zinina VV, et al., TCF7L1 Controls the Differentiation of Tuft Cells in Mouse Small Intestine. Cells. 2023 May 23;12(11)
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory