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2700049A03Rik Gene Detail
Summary
  • Symbol
    2700049A03Rik
  • Name
    RIKEN cDNA 2700049A03 gene
  • Synonyms
    Ta3, talpid3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924217
    NCBI Gene: 76967
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:71136848-71243303 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      106456 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 29.39 cM, cytoband C3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    KIAA0586, KIAA0586
  • Vertebrate Orthologs
    11
  • Human Ortholog
    KIAA0586, KIAA0586
    Orthology source: HGNC, HomoloGene
  • Synonyms
    JBTS23, SRTD14, Talpid3
  • Links
    NCBI Gene ID: 9786
    neXtProt AC: NX_Q9BVV6
    UniProt: Q9BVV6

  • Chr Location
    14q23.1; chr14:58427385-58548831 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human KIAA0586 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 3 alleles in 3 genetic backgrounds
    12 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.
Mice homozygous for a null allele die during organogenesis, lack cilia, and show randomized L-R patterning, face and neural tube defects, pericardial edema and hemorrhages. Mouse embryonic fibroblasts homozygous for a different null allele lack cilia and asymmetrical centriolar localization.
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
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
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000033139 VEGA Gene Model | MGI Sequence Detail 106456 C57BL/6J ±  kb
    transcript OTTMUST00000082871 VEGA | MGI Sequence Detail 5763 Not Applicable  
    polypeptide OTTMUSP00000044471 VEGA | MGI Sequence Detail 1520 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      859 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • InterPro Domains
      IPR029246 Protein TALPID3
    Molecular
    Reagents
    less
    • All nucleic 77
      cDNA 77

      Microarray probesets 4
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 2
      Gene Ontology 6
      Phenotypes 12
    • 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:248981 Li J, et al., PKA-mediated Gli2 and Gli3 phosphorylation is inhibited by Hedgehog signaling in cilia and reduced in Talpid3 mutant. Dev Biol. 2017 Sep 1;429(1):147-157

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory