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Ttc21b Gene Detail
Summary
  • Symbol
    Ttc21b
  • Name
    tetratricopeptide repeat domain 21B
  • Synonyms
    2410066K11Rik, aln, line 158, Thm1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920918
    NCBI Gene: 73668
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:66014671-66086961 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 39.08 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2203 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920918
 protein coding gene Chr2:66014131-66087144 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025783
 protein coding gene Chr2:66029383-66105031 (-)
A/J MGP_AJ_G0025759
 protein coding gene Chr2:63460146-63533056 (-)
AKR/J MGP_AKRJ_G0025729
 protein coding gene Chr2:65184282-65257896 (-)
BALB/cJ MGP_BALBcJ_G0025754
 protein coding gene Chr2:63634464-63710785 (-)
C3H/HeJ MGP_C3HHeJ_G0025515
 protein coding gene Chr2:65370347-65444363 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026201
 protein coding gene Chr2:67968614-68049189 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023605
 protein coding gene Chr2:60817595-60893122 (-)
CAST/EiJ MGP_CASTEiJ_G0024979
 protein coding gene Chr2:65417730-65498143 (-)
CBA/J MGP_CBAJ_G0025495
 protein coding gene Chr2:70500986-70586766 (-)
DBA/2J MGP_DBA2J_G0025626
 protein coding gene Chr2:63099575-63171528 (-)
FVB/NJ MGP_FVBNJ_G0025588
 protein coding gene Chr2:62525436-62597880 (-)
LP/J MGP_LPJ_G0025714
 protein coding gene Chr2:65853853-65930942 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025619
 protein coding gene Chr2:72485233-72566442 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026258
 protein coding gene Chr2:65252649-65330005 (-)
PWK/PhJ MGP_PWKPhJ_G0024720
 protein coding gene Chr2:62922689-62996832 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024527
 protein coding gene Chr2:65411211-65495789 (-)
WSB/EiJ MGP_WSBEiJ_G0025047
 protein coding gene Chr2:65620959-65697774 (-)



Homology
more
  • Human Ortholog
    TTC21B, tetratricopeptide repeat domain 21B
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TTC21B, tetratricopeptide repeat domain 21B
  • Synonyms
    ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, Nbla10696, NPHP12, SRTD4, THM1
  • Links
    NCBI Gene ID: 79809
    neXtProt AC: NX_Q7Z4L5
    UniProt: Q7Z4L5

  • Chr Location
    2q24.3; chr2:165857475-165953851 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ttc21b mouse models; 2 with human TTC21B associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    22 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.
Homozygous mutation of this gene is embryonic lethal. Mutant embryos exhibit several deformities including polydactyly, microphthalmia, irregular shape of the long bones, rib fusion and truncation, neural tube defects, and abnormal brain structure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    14
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    714
  • Tissues
    8
  • cDNA Data
    37
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034848 Ensembl Gene Model | MGI Sequence Detail 72291 C57BL/6J ±  kb
    transcript ENSMUST00000102718 Ensembl | MGI Sequence Detail 4470 Not Applicable  
    polypeptide ENSMUSP00000099779 Ensembl | MGI Sequence Detail 1315 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000016779 tetratricopeptide repeat protein 21B
      (term hierarchy)
    • InterPro Domains
      IPR011990 Tetratricopeptide-like helical domain superfamily
      IPR019734 Tetratricopeptide repeat
      IPR040364 Tetratricopeptide repeat protein 21A/21B
    • GlyGen
      Q0HA38 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 37
      Primer pair 2
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2152543
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 14
      Phenotypes 22
    • 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:339134 Bumann EE, et al., Genetic Interaction of Thm2 and Thm1 Shapes Postnatal Craniofacial Bone. J Dev Biol. 2022 May 11;10(2)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory