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Spen Gene Detail
Summary
  • Symbol
    Spen
  • Name
    spen family transcription repressor
  • Synonyms
    Mint, mKIAA0929
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891706
    NCBI Gene: 56381
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:141195201-141265908 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 74.26 cM, cytoband E1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    783 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891706
 protein coding gene Chr4:141195199-141265955 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029049
 protein coding gene Chr4:144528823-144609386 (-)
A/J MGP_AJ_G0029009
 protein coding gene Chr4:138236601-138312252 (-)
AKR/J MGP_AKRJ_G0028961
 protein coding gene Chr4:142240445-142318406 (-)
BALB/cJ MGP_BALBcJ_G0029033
 protein coding gene Chr4:138929966-139006364 (-)
C3H/HeJ MGP_C3HHeJ_G0028747
 protein coding gene Chr4:142605966-142685051 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029474
 protein coding gene Chr4:149554519-149626967 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026745
 protein coding gene Chr4:131152021-131222478 (-)
CAST/EiJ MGP_CASTEiJ_G0028179
 protein coding gene Chr4:140873023-140949689 (-)
CBA/J MGP_CBAJ_G0028711
 protein coding gene Chr4:153922941-154019479 (-)
DBA/2J MGP_DBA2J_G0028861
 protein coding gene Chr4:138638739-138709286 (-)
FVB/NJ MGP_FVBNJ_G0028828
 protein coding gene Chr4:137756689-137828641 (-)
LP/J MGP_LPJ_G0028960
 protein coding gene Chr4:144552705-144633984 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028854
 protein coding gene Chr4:157727998-157804991 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029512
 protein coding gene Chr4:142763965-142838471 (-)
PWK/PhJ MGP_PWKPhJ_G0027900
 protein coding gene Chr4:135525830-135598277 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027724
 protein coding gene Chr4:138574589-138650217 (-)
WSB/EiJ MGP_WSBEiJ_G0028257
 protein coding gene Chr4:143042077-143122800 (-)



Homology
more
  • Human Ortholog
    SPEN, spen family transcriptional repressor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPEN, spen family transcriptional repressor
  • Synonyms
    HIAA0929, MINT, RATARS, RBM15C, SHARP
  • Links
    NCBI Gene ID: 23013
    neXtProt AC: NX_Q96T58
    UniProt: Q96T58

  • Chr Location
    1p36.21-p36.13; chr1:15836095-15940456 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SPEN associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 4 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    17 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.
Homozygous mutant mice die during late gestation exhibiting morphological abnormalities of the heart, pancreas, and liver. Inactivation of this gene also affects the differentiation of B cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    5
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
non-membrane-bounded 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
    783
  • Tissues
    58
  • cDNA Data
    11
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040761 Ensembl Gene Model | MGI Sequence Detail 70708 C57BL/6J ±  kb
    transcript ENSMUST00000105786 Ensembl | MGI Sequence Detail 12299 Not Applicable  
    polypeptide ENSMUSP00000101412 Ensembl | MGI Sequence Detail 3643 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000015514 Msx2-interacting protein
      (term hierarchy)
    • InterPro Domains
      IPR049095 Msx2-interacting protein, MID domain
      IPR049093 Msx2-interacting protein, nuclear receptor-interacting domain
      IPR049094 Msx2-interacting protein, RAM7 domain
      IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
      IPR035979 RNA-binding domain superfamily
      IPR000504 RNA recognition motif domain
      IPR034172 SHARP, RNA recognition motif 1
      IPR034173 SHARP, RNA recognition motif 2
      IPR034174 SHARP, RNA recognition motif 3
      IPR034175 SHARP, RNA recognition motif 4
      IPR012921 Spen paralogue and orthologue SPOC, C-terminal
      IPR010912 Spen paralogue/orthologue C-terminal, metazoa
      IPR016194 SPOC-like, C-terminal domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 11
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 9
      Gene Ontology 5
      Phenotypes 17
    • Earliest
      J:39118 Crozet F, et al., Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics. 1997 Mar 1;40(2):332-41
    • Latest
      J:332871 Zhang J, et al., RNA-binding protein SPEN controls hepatocyte maturation via regulating Hnf4alpha expression during liver development. Biochem Biophys Res Commun. 2023 Jan 29;642:128-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory