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Exph5 Gene Detail
Summary
  • Symbol
    Exph5
  • Name
    exophilin 5
  • Synonyms
    AC079869.22gm5, B130009M24Rik, slac2-b, Slac2b
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443248
    NCBI Gene: 320051
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:53212970-53288814 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 29.12 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2117 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443248
 protein coding gene Chr9:53212814-53292466 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034808
 protein coding gene Chr9:52311977-52396822 (+)
A/J MGP_AJ_G0034789
 protein coding gene Chr9:50670675-50749816 (+)
AKR/J MGP_AKRJ_G0034717
 protein coding gene Chr9:51765071-51845856 (+)
BALB/cJ MGP_BALBcJ_G0034781
 protein coding gene Chr9:50420992-50501382 (+)
C3H/HeJ MGP_C3HHeJ_G0034491
 protein coding gene Chr9:52246956-52327774 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035300
 protein coding gene Chr9:53789332-53873616 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032213
 protein coding gene Chr9:50067582-50144879 (+)
CAST/EiJ MGP_CASTEiJ_G0033813
 protein coding gene Chr9:52241521-52322068 (+)
CBA/J MGP_CBAJ_G0034462
 protein coding gene Chr9:55613675-55698066 (+)
DBA/2J MGP_DBA2J_G0034621
 protein coding gene Chr9:50552447-50627734 (+)
FVB/NJ MGP_FVBNJ_G0034563
 protein coding gene Chr9:49731247-49808288 (+)
LP/J MGP_LPJ_G0034703
 protein coding gene Chr9:52621274-52703668 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034606
 protein coding gene Chr9:57197539-57281773 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035322
 protein coding gene Chr9:51764505-51852665 (+)
PWK/PhJ MGP_PWKPhJ_G0033517
 protein coding gene Chr9:50527269-50604714 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033353
 protein coding gene Chr9:52040245-52129598 (+)
WSB/EiJ MGP_WSBEiJ_G0033925
 protein coding gene Chr9:51766364-51846919 (+)



Homology
more
  • Human Ortholog
    EXPH5, exophilin 5
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EXPH5, exophilin 5
  • Synonyms
    EBS4, SLAC2-B, SLAC2B
  • Links
    NCBI Gene ID: 23086
    neXtProt AC: NX_Q8NEV8
    UniProt: Q8NEV8

  • Chr Location
    11q22.3; chr11:108505435-108607536 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human EXPH5 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
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    9 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 increased allergic airway inflammation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • 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
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
    706
  • cDNA Data
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034584 Ensembl Gene Model | MGI Sequence Detail 75845 C57BL/6J ±  kb
    transcript ENSMUST00000051014 Ensembl | MGI Sequence Detail 5957 Not Applicable  
    polypeptide ENSMUSP00000062632 Ensembl | MGI Sequence Detail 1960 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 1
      cDNA 16

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2158493
    References
    more
    • Summaries
      All 33
      Gene Ontology 5
      Phenotypes 9
    • Earliest
      J:75312 Kuroda TS, et al., The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. J Biol Chem. 2002 Mar 15;277(11):9212-8
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory