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Kptn Gene Detail
Summary
  • Symbol
    Kptn
  • Name
    kaptin
  • Synonyms
    2310042D10Rik, 2E4, actin-binding protein, C030013F01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890380
    NCBI Gene: 70394
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:15853820-15861441 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 8.75 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    93 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890380
protein coding gene Chr7:15853801-15861441 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031699
protein coding gene Chr7:13775415-13782991 (+)
A/J MGP_AJ_G0031671
protein coding gene Chr7:13580054-13588397 (+)
AKR/J MGP_AKRJ_G0031596
protein coding gene Chr7:13882718-13890333 (+)
BALB/cJ MGP_BALBcJ_G0031678
protein coding gene Chr7:13679851-13687808 (+)
C3H/HeJ MGP_C3HHeJ_G0031400
protein coding gene Chr7:14056053-14064704 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032144
protein coding gene Chr7:14531550-14539078 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029223
protein coding gene Chr7:15137869-15145297 (+)
CAST/EiJ MGP_CASTEiJ_G0030751
protein coding gene Chr7:10826051-10835432 (+)
CBA/J MGP_CBAJ_G0031359
protein coding gene Chr7:14976929-14984567 (+)
DBA/2J MGP_DBA2J_G0031515
protein coding gene Chr7:13466710-13474894 (+)
FVB/NJ MGP_FVBNJ_G0031471
protein coding gene Chr7:13351543-13359445 (+)
LP/J MGP_LPJ_G0031600
protein coding gene Chr7:14047543-14055105 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031506
protein coding gene Chr7:14956820-14964499 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032173
protein coding gene Chr7:13656532-13666135 (+)
PWK/PhJ MGP_PWKPhJ_G0030475
protein coding gene Chr7:10974854-10982682 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030303
protein coding gene Chr7:8587842-8596997 (+)
WSB/EiJ MGP_WSBEiJ_G0030848
protein coding gene Chr7:13694574-13702208 (+)



Homology
more
  • Human Ortholog
    KPTN, kaptin, actin binding protein
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KPTN, kaptin, actin binding protein
  • Synonyms
    2E4, KICS4, MRT41
  • Links
    NCBI Gene ID: 11133
    neXtProt AC: NX_Q9Y664
    UniProt: Q9Y664

  • Chr Location
    19q13.32; chr19:47475150-47485839 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Kptn mouse models; 1 with human KPTN associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 1 allele in 3 genetic backgrounds
    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 knock-out allele exhibit increased body weight on a high-fat diet, increased bacterial counts following S. Typhimurium challenge, postnatal skull and brain overgrowth, hyperactivity, anxiety-like behavior, and cognitive deficits but normal hearing.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
  • cDNA Data
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006021 Ensembl Gene Model | MGI Sequence Detail 7622 C57BL/6J ±  kb
    transcript ENSMUST00000006178 Ensembl | MGI Sequence Detail 1630 Not Applicable  
    polypeptide ENSMUSP00000006178 Ensembl | MGI Sequence Detail 430 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      Genomic 4
      cDNA 8

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917644, MGI:1924707
    References
    more
    • Summaries
      All 35
      Diseases 1
      Gene Ontology 4
      Phenotypes 9
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:343200 Levitin MO, et al., Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain. 2023 Nov 2;146(11):4766-4783

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory