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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
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
    2 experiments
Homology
more
  • Human Ortholog
    KIAA0586, KIAA0586
  • Vertebrate Orthologs
    11
  • Human Ortholog
    KIAA0586, KIAA0586
    Orthology source: HomoloGene
  • Synonyms
    JBTS23, SRTD14, Talpid3
  • Links
    NCBI Gene ID: 9786
    neXtProt AC: NX_Q9BVV6

  • Chr Location
    14q23.1; chr14:58427385-58548831 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human KIAA0586 associations

Human Disease Mouse Models
       Joubert Syndrome 23; JBTS23   OMIM: 616490
Short-Rib Thoracic Dysplasia 14 with Polydactyly; SRTD14   OMIM: 616546
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 2 alleles in 2 genetic backgrounds
    11 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
    17
  • Chemically induced (other)
    1
  • Gene trapped
    11
  • Targeted
    5
  • Genomic Mutations
    1 involving 2700049A03Rik
  • Incidental Mutations
Mice homozygous for a null mutation die during organogenesis, lack cilia, and have randomized left-right patterning, pericardial edema, and hemorrhages.
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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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
    7 Sequences
  • InterPro Domains
    IPR029246 Protein TALPID3
Molecular
Reagents
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  • All nucleic 76
    cDNA 76

    Microarray probesets 4
References
more
  • Summaries
    All 30
    Gene Ontology 5
    Phenotypes 11
  • 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:229412 Stephen LA, et al., TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife. 2015;4

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
06/22/2016
MGI 6.04
The Jackson Laboratory