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D130043K22Rik Gene Detail
Summary
  • Symbol
    D130043K22Rik
  • Name
    RIKEN cDNA D130043K22 gene
  • Synonyms
    4930451E12Rik, Kiaa0319
  • Feature Type
    protein coding gene
  • IDs
    MGI:3036268
    NCBI Gene: 210108
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:25029118-25085253 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 10.72 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1790 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 Chr13:25029114-25085422 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KIAA0319, KIAA0319
  • Synonyms
    DYLX2, DYX2, NMIG
  • Links
    NCBI Gene ID: 9856
    neXtProt AC: NX_Q5VV43
    UniProt: Q5VV43

  • Chr Location
    6p22.3; chr6:24540141-24646191 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 2 genetic backgrounds
    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 knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    8
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    737
  • Tissues
    21
  • cDNA Data
    15
  • Literature Summary
    5
Sequences &
Gene Models
less
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 44
    Developmental Gene Expression 5
    Gene Ontology 8
    Phenotypes 17
  • Earliest
    J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
  • 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)
Citing These Resources
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