About   Help   FAQ
Take the Alliance for Genomic Resources User Survey
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
Location & Maps
more
  • Sequence Map
    Chr13:96542735-96640167 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      97433 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 50.58 cM
  • Mapping Data
    2 experiments
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: HomoloGene, HGNC
  • Synonyms
    CERT, CERTL, GPBP, MRD34, STARD11
  • Links
    NCBI Gene ID: 10087
    neXtProt AC: NX_Q9Y5P4

  • Chr Location
    5q13.3; chr5:75368486-75511981 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human COL4A3BP associations

Human Disease Mouse Models
       Mental Retardation, Autosomal Dominant 34; MRD34   OMIM: 616351
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    5 images
    13 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.
  • All Mutations and Alleles
    10
  • Gene trapped
    6
  • Targeted
    3
  • Transgenic
    1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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
    27
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
    112
  • Literature Summary
    3
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
Polymorphisms
less
  • SNPs within 2kb
    494 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 113
    cDNA 113

    Microarray probesets 8
Other
Accession IDs
less
MGI:1924931, MGI:2145338
References
more
  • Summaries
    All 42
    Developmental Gene Expression 3
    Gene Ontology 5
    Phenotypes 13
  • 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:215079 Rao RP, et al., Ceramide transfer protein deficiency compromises organelle function and leads to senescence in primary cells. PLoS One. 2014;9(3):e92142
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory