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Tctn2 Gene Detail
Summary
  • Symbol
    Tctn2
  • Name
    tectonic family member 2
  • Synonyms
    4432405B04Rik, Tect2
Location & Maps
more
  • Sequence Map
    Chr5:124598749-124627738 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28990 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 63.68 cM, cytoband F
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TCTN2, tectonic family member 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TCTN2, tectonic family member 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C12orf38, JBTS24, MKS8, TECT2
  • Links
    NCBI Gene ID: 79867
    neXtProt AC: NX_Q96GX1

  • Chr Location
    12q24.31; chr12:123671113-123708405 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 11729
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: TCTN2
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human TCTN2 associations

Human Disease Mouse Models
       Joubert Syndrome 1; JBTS1   OMIM: 213300
Joubert Syndrome 24; JBTS24   OMIM: 616654
Meckel Syndrome, Type 8; MKS8   OMIM: 613885
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
    10 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
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Tctn2
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit open neural tubes, exencephaly, micropthalmia, cleft palate, preaxial polydactyly, ventricular septal defect, sight-sided stomach, absent floor plate, and cilia defects.
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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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024481 VEGA Gene Model | MGI Sequence Detail 28990 C57BL/6J ±  kb
transcript OTTMUST00000060065 VEGA | MGI Sequence Detail 3400 Not Applicable  
polypeptide Q2MV57 UniProt | EBI | MGI Sequence Detail 700 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    170 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • InterPro Domains
    IPR011677 Domain of unknown function DUF1619
Molecular
Reagents
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  • All nucleic 14
    cDNA 12
    Primer pair 1
    Other 1

    Microarray probesets 4
References
more
  • Summaries
    All 28
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 10
  • 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:231293 Li C, et al., MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS Biol. 2016 Mar;14(3):e1002416

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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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory