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D130043K22Rik Gene Detail
Summary
  • Symbol
    D130043K22Rik
  • Name
    RIKEN cDNA D130043K22 gene
  • Synonyms
    4930451E12Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:3036268
    NCBI Gene: 210108
  • Gene Overview
    MyGene.info: KIAA0319
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:24845135-24901270 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 10.72 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    510 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3036268
protein coding gene Chr13:24845131-24901439 (.)
129S1/SvImJ MGP_129S1SvImJ_G0020383
protein coding gene Chr13:22344321-22405292 (+)
A/J MGP_AJ_G0020332
protein coding gene Chr13:21930976-21989837 (+)
AKR/J MGP_AKRJ_G0020312
protein coding gene Chr13:22172251-22229931 (+)
BALB/cJ MGP_BALBcJ_G0020330
protein coding gene Chr13:21907830-21967590 (+)
C3H/HeJ MGP_C3HHeJ_G0020134
protein coding gene Chr13:22253813-22310739 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020767
protein coding gene Chr13:23138816-23199611 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018355
protein coding gene Chr13:20642496-20705538 (+)
CAST/EiJ MGP_CASTEiJ_G0019651
protein coding gene Chr13:21960822-22025360 (+)
CBA/J MGP_CBAJ_G0020088
protein coding gene Chr13:24025208-24091450 (+)
DBA/2J MGP_DBA2J_G0020214
protein coding gene Chr13:21426215-21486057 (+)
FVB/NJ MGP_FVBNJ_G0020198
protein coding gene Chr13:21073354-21129030 (+)
LP/J MGP_LPJ_G0020287
protein coding gene Chr13:22643578-22700159 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020225
protein coding gene Chr13:24279828-24339683 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020809
protein coding gene Chr13:22016863-22075206 (+)
PWK/PhJ MGP_PWKPhJ_G0019405
protein coding gene Chr13:21448858-21508821 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019221
protein coding gene Chr13:20845877-20912248 (+)
WSB/EiJ MGP_WSBEiJ_G0019711
protein coding gene Chr13:22186562-22253119 (+)



Homology
more
  • Human Ortholog
    KIAA0319, KIAA0319
  • Vertebrate Orthologs
    9
  • Human Ortholog
    KIAA0319, KIAA0319
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AAVR, DYLX2, DYX2, NMIG
  • Links
    NCBI Gene ID: 9856
    neXtProt AC: NX_Q5VV43
    UniProt: Q5VV43

  • Chr Location
    6p22.3; chr6:24540131-24646211 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response.
Gene Ontology
(GO)
Classifications
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  • 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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000006711 Ensembl Gene Model | MGI Sequence Detail 56136 C57BL/6J ±  kb
transcript ENSMUST00000006893 Ensembl | MGI Sequence Detail 4973 Not Applicable  
polypeptide ENSMUSP00000006893 Ensembl | MGI Sequence Detail 1081 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:1925407
References
more
  • Summaries
    All 40
    Developmental Gene Expression 4
    Gene Ontology 4
    Phenotypes 15
  • Earliest
    J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
  • Latest
    J:249823 Guidi LG, et al., Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing. Cereb Cortex. 2017 Dec 1;27(12):5831-5845

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory