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Spdef
Gene Detail
 Symbol
Name
ID
Spdef
SAM pointed domain containing ets transcription factor
MGI:1353422
Synonyms PDEF, Pse
Feature Type protein coding gene
Genetic Map
Chromosome 17
14.59 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr17:27714352-27728950 bp, - strand
From VEGA annotation of GRCm38

  14599 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8231  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: SAM pointed domain-containing Ets transcription factor
Gene Tree: Spdef

Human
homologs
Human Homolog SPDEF, SAM pointed domain containing ets transcription factor
NCBI Gene ID 25803
neXtProt AC  NX_O95238
Human Synonyms  bA375E1.3, PDEF
Human Chr (Location)  6p21.3; chr6:34537802-34556333 (-)  GRCh38
Alleles
and
phenotypes
All alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Phenotype Images(4)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process intestinal epithelial cell development, lung goblet cell differentiation, ...
Component nucleus
Function DNA binding, sequence-specific DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (175)    Tissues (162)    Images (31)
Theiler Stages: 2, 3, 4, 5, 15, 16, 17, 21, 22, 23, 28
Assay TypeResults
RNA in situ 160
RT-PCR 15
cDNA source data(28)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(30) cDNA(28) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021352 (Evidence)
Ensembl Gene ModelENSMUSG00000024215 (Evidence)
Entrez Gene30051 (Evidence)
UniGene26768
DFCITC1583270
DoTSDT.101295157, DT.110550525, DT.40167036
NIA Mouse Gene IndexU037596
Consensus CDS ProjectCCDS28568.1
International Mouse Knockout Project StatusSpdef
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021352 VEGA Gene Model | MGI Sequence Detail 14599 C57BL/6J ±  kb
transcript OTTMUST00000050632 VEGA | MGI Sequence Detail 2070 Not Applicable 
polypeptide OTTMUSP00000023670 VEGA | MGI Sequence Detail 325 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(14) UniProt(2)
Polymorphisms SNPs within 2kb(182 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000418 Ets domain
InterPro IPR003118 Pointed domain
InterPro IPR013761 Sterile alpha motif/pointed domain
InterPro IPR011991 Winged helix-turn-helix DNA-binding domain
Protein Ontology PR:000015508 SAM pointed domain-containing Ets transcription factor
References (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:198924 Marko CK, et al., Spdef null mice lack conjunctival goblet cells and provide a model of dry eye. Am J Pathol. 2013 Jul;183(1):35-48
All references(49)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory