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Col4a3bp Gene Detail
Summary
  • Symbol
    Col4a3bp
  • Name
    collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
  • Synonyms
    2810404O15Rik, 9230101K08Rik, ceramide transport protein, Cert, GPBP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915268
    NCBI Gene: 68018
  • Gene Overview
    MyGene.info: COL4A3BP
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:96542735-96640167 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 50.58 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    494 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915268
 protein coding gene Chr13:96542618-96640167 (.)
129S1/SvImJ MGP_129S1SvImJ_G0020852
 protein coding gene Chr13:98083703-98195336 (+)
A/J MGP_AJ_G0020806
 protein coding gene Chr13:94389098-94490354 (+)
AKR/J MGP_AKRJ_G0020780
 protein coding gene Chr13:97274111-97382333 (+)
BALB/cJ MGP_BALBcJ_G0020803
 protein coding gene Chr13:95088284-95184124 (+)
C3H/HeJ MGP_C3HHeJ_G0020596
 protein coding gene Chr13:96969655-97077631 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021238
 protein coding gene Chr13:101056737-101153799 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018807
 protein coding gene Chr13:90190430-90296817 (+)
CAST/EiJ MGP_CASTEiJ_G0020114
 protein coding gene Chr13:96295101-96410510 (+)
CBA/J MGP_CBAJ_G0020555
 protein coding gene Chr13:105060555-105172920 (+)
DBA/2J MGP_DBA2J_G0020680
 protein coding gene Chr13:94165770-94263292 (+)
FVB/NJ MGP_FVBNJ_G0020661
 protein coding gene Chr13:92928583-93025996 (+)
LP/J MGP_LPJ_G0020755
 protein coding gene Chr13:98218116-98322853 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020689
 protein coding gene Chr13:105438651-105548059 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021279
 protein coding gene Chr13:96699179-96801073 (+)
PWK/PhJ MGP_PWKPhJ_G0019866
 protein coding gene Chr13:92950477-93060929 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019690
 protein coding gene Chr13:92984303-93084853 (+)
WSB/EiJ MGP_WSBEiJ_G0020171
 protein coding gene Chr13:97177059-97274938 (+)



Homology
more
  • Human Ortholog
    COL4A3BP, collagen type IV alpha 3 binding protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL4A3BP, collagen type IV alpha 3 binding protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CERT, CERTL, GPBP, MRD34, STARD11
  • Links
    NCBI Gene ID: 10087
    neXtProt AC: NX_Q9Y5P4
    UniProt: Q9Y5P4

  • Chr Location
    5q13.3; chr5:75368486-75511981 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with human COL4A3BP 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
    46 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    5 images
    16 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 mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    47
  • GO References
    7
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
    94
  • Tissues
    94
  • cDNA Data
    113
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68018 NCBI Gene Model | MGI Sequence Detail 97433 C57BL/6J ±  kb
    transcript NM_023420 RefSeq | MGI Sequence Detail 5363 C57BL/6  
    polypeptide Q9EQG9 UniProt | EBI | MGI Sequence Detail 624 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 114
      cDNA 114

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1924931, MGI:2145338
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 16
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:261316 Perez-Garcia V, et al., Placentation defects are highly prevalent in embryonic lethal mouse mutants. Nature. 2018 Mar 22;555(7697):463-468
    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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    11/27/2018
    MGI 6.13     		The Jackson Laboratory