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2410089E03Rik Gene Detail
Summary
  • Symbol
    2410089E03Rik
  • Name
    RIKEN cDNA 2410089E03 gene
  • Synonyms
    4732468D17Rik, b2b012Clo, Hug, Jbts17
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920942
    NCBI Gene: 73692
Location & Maps
more
  • Sequence Map
    Chr15:8169106-8271158 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      102053 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    C5orf42, chromosome 5 open reading frame 42
  • Vertebrate Orthologs
    8
  • Human Ortholog
    C5orf42, chromosome 5 open reading frame 42
    Orthology source: HGNC, HomoloGene
  • Synonyms
    Hug, JBTS17, OFD6
  • Links
    NCBI Gene ID: 65250
    neXtProt AC: NX_Q9H799

  • Chr Location
    5p13.2; chr5:37065171-37249428 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human C5orf42 associations

Human Disease Mouse Models
       Joubert Syndrome 17; JBTS17   OMIM: 614615
Joubert Syndrome 1; JBTS1   OMIM: 213300
Orofaciodigital Syndrome VI; OFD6   OMIM: 277170
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    64 images
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Gene trapped
    3
  • Targeted
    1
  • Transposon induced
    1
  • Genomic Mutations
    1 involving 2410089E03Rik
  • Incidental Mutations
Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs.
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
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
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022443 VEGA Gene Model | MGI Sequence Detail 102053 C57BL/6J ±  kb
transcript OTTMUST00000053654 VEGA | MGI Sequence Detail 10469 Not Applicable  
polypeptide OTTMUSP00000025520 VEGA | MGI Sequence Detail 3214 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    491 from dbSNP Build 137
Protein
Information
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  • UniProt
    1 Sequence
  • InterPro Domains
    IPR028236 Joubert syndrome-associated protein
Molecular
Reagents
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  • All nucleic 10
    cDNA 10

    Microarray probesets 9
Other
Accession IDs
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MGI:2447821, MGI:5300208
References
more
  • Summaries
    All 29
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:223340 Damerla RR, et al., Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Hum Mol Genet. 2015 Jul 15;24(14):3994-4005

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory