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Ess2 Gene Detail
Summary
  • Symbol
    Ess2
  • Name
    ess-2 splicing factor
  • Synonyms
    D16H22S1269E, Dgcr14, Dgsi, ES2, Es2el
  • Feature Type
    protein coding gene
  • IDs
    MGI:107854
    NCBI Gene: 27886
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:17718573-17729212 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 11.09 cM, cytoband B1-B3
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    43 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107854
 protein coding gene Chr16:17718573-17729225 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022597
 protein coding gene Chr16:15087587-15100589 (-)
A/J MGP_AJ_G0022558
 protein coding gene Chr16:14336397-14347410 (-)
AKR/J MGP_AKRJ_G0022535
 protein coding gene Chr16:14896072-14906681 (-)
BALB/cJ MGP_BALBcJ_G0022561
 protein coding gene Chr16:14489521-14502241 (-)
C3H/HeJ MGP_C3HHeJ_G0022328
 protein coding gene Chr16:15042654-15054646 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023012
 protein coding gene Chr16:15329837-15341883 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020532
 protein coding gene Chr16:14394599-14405452 (-)
CAST/EiJ MGP_CASTEiJ_G0021856
 protein coding gene Chr16:14959173-14972381 (-)
CBA/J MGP_CBAJ_G0022299
 protein coding gene Chr16:16003231-16013832 (-)
DBA/2J MGP_DBA2J_G0022429
 protein coding gene Chr16:14248711-14259300 (-)
FVB/NJ MGP_FVBNJ_G0022405
 protein coding gene Chr16:14298878-14311191 (-)
LP/J MGP_LPJ_G0022496
 protein coding gene Chr16:14871003-14882314 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022426
 protein coding gene Chr16:15682152-15692725 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023023
 protein coding gene Chr16:14841462-14852636 (-)
PWK/PhJ MGP_PWKPhJ_G0021599
 protein coding gene Chr16:14507617-14518892 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021427
 protein coding gene Chr16:14810784-14822564 (-)
WSB/EiJ MGP_WSBEiJ_G0021903
 protein coding gene Chr16:14825836-14836429 (-)



Homology
more
  • Human Ortholog
    ESS2, ess-2 splicing factor homolog
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ESS2, ess-2 splicing factor homolog
  • Synonyms
    bis1, DGCR13, DGCR14, DGS-H, DGSH, DGS-I, DGSI, ES2, Es2el, ESS-2
  • Links
    NCBI Gene ID: 8220
    neXtProt AC: NX_Q96DF8
    UniProt: Q96DF8

  • Chr Location
    22q11.21; chr22:19130279-19144684 (-)  GRCh38
Human Diseases
less
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    136 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 exhibit embryonic lethality. Mice homozygous for a conditional allele activated in T cells exhibit reduced peripheral naive T cells and failure to maintain survival in response to IL-7.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    7
  • 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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
    834
  • Tissues
    90
  • cDNA Data
    79
  • Literature Summary
    9
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000003527 Ensembl Gene Model | MGI Sequence Detail 10640 C57BL/6J ±  kb
transcript ENSMUST00000003621 Ensembl | MGI Sequence Detail 2821 Not Applicable  
polypeptide ENSMUSP00000003621 Ensembl | MGI Sequence Detail 480 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 111
    Genomic 27
    cDNA 79
    Primer pair 4
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-36431, MGI:2146439, MGI:6156410, MGI:892008
References
more
  • Summaries
    All 176
    Developmental Gene Expression 9
    Diseases 6
    Gene Ontology 5
    Phenotypes 136
  • Earliest
    J:15242 Halford S, et al., Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum Mol Genet. 1993 Oct;2(10):1577-82
  • Latest
    J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599
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