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Col4a5 Gene Detail
Summary
  • Symbol
    Col4a5
  • Name
    collagen, type IV, alpha 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:88456
    NCBI Gene: 12830
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:140258381-140472230 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 62.16 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    4671 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88456
 protein coding gene ChrX:140258367-140472232 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036143
 protein coding gene ChrX:138958598-139180556 (+)
A/J MGP_AJ_G0036120
 protein coding gene ChrX:138342785-138571054 (+)
AKR/J MGP_AKRJ_G0036046
 protein coding gene ChrX:142772339-142984510 (+)
BALB/cJ MGP_BALBcJ_G0036111
 protein coding gene ChrX:136623764-136831237 (+)
C3H/HeJ MGP_C3HHeJ_G0035819
 protein coding gene ChrX:139076276-139289301 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036635
 protein coding gene ChrX:142989512-143216167 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033459
 protein coding gene ChrX:130000314-130211971 (+)
CAST/EiJ MGP_CASTEiJ_G0035111
 protein coding gene ChrX:119795110-120022323 (+)
CBA/J MGP_CBAJ_G0035796
 protein coding gene ChrX:147401044-147645779 (+)
DBA/2J MGP_DBA2J_G0035954
 protein coding gene ChrX:137437547-137653311 (+)
FVB/NJ MGP_FVBNJ_G0035888
 protein coding gene ChrX:136662369-136875746 (+)
LP/J MGP_LPJ_G0036045
 protein coding gene ChrX:139881616-140097946 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035924
 protein coding gene ChrX:154958431-155234397 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036671
 protein coding gene ChrX:138258891-138487667 (+)
PWK/PhJ MGP_PWKPhJ_G0034804
 protein coding gene ChrX:116657566-116871304 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034630
 protein coding gene ChrX:120292909-120531945 (+)
WSB/EiJ MGP_WSBEiJ_G0035245
 protein coding gene ChrX:136695911-136905970 (+)



Homology
more
  • Human Ortholog
    COL4A5, collagen type IV alpha 5 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL4A5, collagen type IV alpha 5 chain
  • Synonyms
    ASLN, ATS, ATS1, CA54
  • Links
    NCBI Gene ID: 1287
    neXtProt AC: NX_P29400
    UniProt: P29400

  • Chr Location
    Xq22.3; chrX:108439838-108697545 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col4a5 mouse models; 2 with human COL4A5 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    26 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.
Heterozygous or hemizygous mutation of this gene results in premature death, proteinuria, elevated blood urea nitrogen, and kidney glomerular and tubular malformations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    10
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
    986
  • Tissues
    106
  • cDNA Data
    85
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031274 Ensembl Gene Model | MGI Sequence Detail 213850 C57BL/6J ±  kb
    transcript ENSMUST00000112930 Ensembl | MGI Sequence Detail 6285 Not Applicable  
    polypeptide ENSMUSP00000108552 Ensembl | MGI Sequence Detail 1691 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 87
      cDNA 85
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2070
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 24
      Diseases 3
      Gene Ontology 10
      Phenotypes 26
    • Earliest
      J:36890 Saga Y, et al., Mice develop normally without tenascin. Genes Dev. 1992 Oct;6(10):1821-31
    • 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