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TTC21B Gene

protein-coding   GIFtS: 52
GCID: GC02M166713

Tetratricopeptide Repeat Domain 21B

  See TTC21B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tetratricopeptide Repeat Domain 21B1 2     IFT1392
TPR Repeat Protein 21B2 3     JBTS112
ATD42 5     Putative Protein Product Of Nbla106962
NPHP122 5     Tetratricopeptide Repeat Protein 21B2
SRTD42 5     KIAA19923
THM12 5     

External Ids:    HGNC: 256601   Entrez Gene: 798092   Ensembl: ENSG000001236077   OMIM: 6120145   UniProtKB: Q7Z4L53   

Export aliases for TTC21B gene to outside databases

Previous GC identifers: GC02M166491 GC02M165905 GC02M158612


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TTC21B Gene:
This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This
protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia.
Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic
dystrophy 4. (provided by RefSeq, Oct 2011)

GeneCards Summary for TTC21B Gene:
TTC21B (tetratricopeptide repeat domain 21B) is a protein-coding gene. Diseases associated with TTC21B include nephronophthisis 12, and ttc21b-related joubert syndrome. An important paralog of this gene is TTC21A.

UniProtKB/Swiss-Prot: TT21B_HUMAN, Q7Z4L5
Function: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Negatively
modulates the SHH signal transduction (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC21B gene promoter:
         GR   TBP   GR-beta   Nkx2-2   FOXD3   CREB   Ik-2   TFIID   deltaCREB   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC21B promoter sequence
   Search Chromatin IP Primers for TTC21B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC21B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q24.3   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q24.3

TTC21B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC21B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M166713:  view genomic region     (about GC identifiers)

Start:
166,713,985 bp from pter      End:
166,810,353 bp from pter
Size:
96,369 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TT21B_HUMAN, Q7Z4L5 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 21B  
Size: 1316 amino acids; 150937 Da
Subunit: Component of the IFT complex A (IFT-A)
Sequence caution: Sequence=AAY14750.1; Type=Erroneous gene model prediction; Sequence=BAB13836.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: A8MUZ3 Q3LIE4 Q53T84 Q6P4A1 Q6PIF5 Q8NCN3 Q96MA4 Q9HAK8
Alternative splicing: 2 isoforms:  Q7Z4L5-1   Q7Z4L5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC21B: NX_Q7Z4L5

Explore proteomics data for TTC21B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys184, Lys308
  • Modification sites at PhosphoSitePlus

  • See TTC21B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079029.3  
    ENSEMBL proteins: 
     ENSP00000376460   ENSP00000243344   ENSP00000438692  

    TTC21B Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TTC21B

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFT: Intraflagellar transport homologs
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR001440 TPR_1
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q7Z4L5

    ProtoNet protein and cluster: Q7Z4L5

    UniProtKB/Swiss-Prot: TT21B_HUMAN, Q7Z4L5
    Similarity: Belongs to the TTC21 family
    Similarity: Contains 19 TPR repeats


    Find genes that share domains with TTC21B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TT21B_HUMAN, Q7Z4L5
    Function: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Negatively
    modulates the SHH signal transduction (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TTC21B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC21B:
     Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ttc21b):
     craniofacial  embryogenesis  limbs/digits/tail  nervous system  skeleton 

    Find genes that share phenotypes with TTC21B           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TTC21B

    miRNA
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    miRTarBase miRNAs that target TTC21B:
    hsa-mir-218-5p (MIRT046982)

    Block miRNA regulation of human, mouse, rat TTC21B using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TTC21B:
    hsa-miR-1287 hsa-miR-495 hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidTTC21B 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TT21B_HUMAN, Q7Z4L5: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005929cilium IEA--
    GO:0030991intraciliary transport particle A IDA--

    Find genes that share ontologies with TTC21B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTC21B
    Interactions:

        Search GeneGlobe Interaction Network for TTC21B

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TTC21B (Q7Z4L53 ENSP000002433444) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter IMP--
    GO:0007224smoothened signaling pathway IEA--
    GO:0042073intraciliary transport IEA--
    GO:0060271cilium morphogenesis IEA--

    Find genes that share ontologies with TTC21B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTC21B (TT21B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TTC21B gene: 
    NM_024753.4  

    Unigene Cluster for TTC21B:

    Tetratricopeptide repeat domain 21B
    Hs.310672  [show with all ESTs]
    Unigene Representative Sequence: NM_024753
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489714 ENST00000486672(uc021vrz.1) ENST00000392695 ENST00000243344(uc002udk.3)
    ENST00000497425 ENST00000484129 ENST00000464374(uc002udl.3) ENST00000476227
    ENST00000536175(uc002udj.2)
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate TTC21B:
    hsa-miR-1287 hsa-miR-495 hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidTTC21B 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TTC21B
      QuantiTect SYBR Green Assays in human, mouse, rat TTC21B
      QuantiFast Probe-based Assays in human, mouse, rat TTC21B

    Additional mRNA sequence: 

    AB073395.1 AK057268.1 AK096451.1 AK292942.1 BC035767.2 BC055424.1 BC063579.1 BX647903.1 

    8 DOTS entries:

    DT.101983099  DT.95259000  DT.95104689  DT.101969023  DT.100783939  DT.91998178  DT.75166790  DT.75196290 

    Selected AceView cDNA sequences (see all 105):

    AW005879 BP872584 CD678627 CD251890 BX092716 CD251671 CK905149 CR608010 
    BX280579 BX504175 BC063579 BU735940 BC035767 BQ434846 BM990589 AK057906 
    AV711245 BM974112 BX647903 AI248774 AI091098 BQ233221 AU117494 AK057268 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TTC21B (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
    SP1:                                -                                                     -                                                                     
    SP2:                                -                                                                                                                           
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35
    SP1:        -                                               -     -                                                         
    SP2:                                                                                                                        
    SP3:                                                        -     -                 -                       -               
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for TTC21B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TTC21B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAGACAA
    TTC21B Expression
    About this image

    TTC21B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC21B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.310672
        Custom PCR Arrays for TTC21B
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TTC21B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc21b1 , 5 tetratricopeptide repeat domain 21B1, 5 83.5(n)1
    85.93(a)1
      2 (39.08 cM)5
    736681  NM_001047604.11  NP_001041069.11 
     661843275 
    chicken
    (Gallus gallus)
    Aves TTC21B1 tetratricopeptide repeat domain 21B 75.29(n)
    76.12(a)
      424176  XM_422022.4  XP_422022.3 
    lizard
    (Anolis carolinensis)
    Reptilia TTC21B6
    tetratricopeptide repeat domain 21B
    68(a)
    1 ↔ 1
    GL343214.1(1073312-1128433)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ttc21b1 tetratricopeptide repeat domain 21B 72.42(n)
    77.08(a)
      100490430  XM_002936759.2  XP_002936805.2 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb9472 sbcb947 74.34(n)   378991  CK026626.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0001361 AgaP_AGAP000136 46.79(n)
    41.07(a)
      1272132  XM_311010.5  XP_311010.5 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK328.71 ZK328.7 47.38(n)
    31.92(a)
      175855  NM_001027822.2  NP_001022993.2 


    ENSEMBL Gene Tree for TTC21B (if available)
    TreeFam Gene Tree for TTC21B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTC21B gene
    TTC21A2  
    1 SIMAP similar gene for TTC21B using alignment to 2 protein entries:     TT21B_HUMAN (see all proteins):
    TTC21A

    Find genes that share paralogs with TTC21B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TTC21B (see all 1950)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1895197601,2,,4
    CBardet-Biedl syndrome (BBS)4 --166137438(+) ATTGAA/CTGTAA 2 S I mis11Minor allele frequency- C:0.00EU 1323
    rs1463200751,2,,4
    C,FNephronophthisis 12 (NPHP12)4 --166171048(+) TCAAAT/CGGTAT 2 /H /R mis12Minor allele frequency- C:0.00NA EU 5813
    rs1850897861,2,,4
    CBardet-Biedl syndrome (BBS)4 --166182883(+) TTGTCA/C/GTTTAT 2 R * stg11EU 1283
    rs1499255631,2,,4
    C,FNephronophthisis 12 (NPHP12)4 --166194633(+) AACTGT/ACTGGT 2 /T /S mis12Minor allele frequency- A:0.00NA EU 5867
    VAR_0655374
    Asphyxiating thoracic dystrophy 4 (ATD4)4--see VAR_0655372 L P mis40--------
    VAR_0655504
    Joubert syndrome 11 (JBTS11)4--see VAR_0655502 M V mis40--------
    VAR_0681724
    Joubert syndrome 11 (JBTS11)4--see VAR_0681722 M T mis40--------
    VAR_0655364
    Asphyxiating thoracic dystrophy 4 (ATD4)4--see VAR_0655362 D Y mis40--------
    VAR_0655484
    Bardet-Biedl syndrome (BBS)4--see VAR_0655482 T R mis40--------
    VAR_0655164
    Nephronophthisis 12 (NPHP12)4--see VAR_0655162 W R mis40--------

    HapMap Linkage Disequilibrium report for TTC21B (166713985 - 166810353 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TTC21B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507045CNV Insertion20534489
    nsv834445CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): TTC21B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTC21B
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC21B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 612014   
    OMIM disorders: 613820  613819  
    UniProtKB/Swiss-Prot: TT21B_HUMAN, Q7Z4L5
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies.
    Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities,
    fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral
    nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert
    syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. TTC21B
    is causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy
    spectrum. TTC21B mutations interact in trans with mutations in other ciliopathy-causing genes and contribute to
    disease manifestation and severity
  • Nephronophthisis 12 (NPHP12) [MIM:613820]: An autosomal recessive disorder resulting in end-stage renal
    disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of
    the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages,
    medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous
    system defects. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Asphyxiating thoracic dystrophy 4 (ATD4) [MIM:613819]: An autosomal recessive chondrodysplasia
    characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often
    leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and
    hepatic disease can be present in affected individuals who survive early childhood. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease may be caused by
    mutations affecting the gene represented in this entry
  • Joubert syndrome 11 (JBTS11) [MIM:613820]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles,
    and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar
    tooth sign). Additional variable features include retinal dystrophy and renal disease. Note=The disease may be
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for TTC21B (see all 33):    
    About MalaCards
    nephronophthisis 12    ttc21b-related joubert syndrome    short-rib thoracic dysplasia 4 with or without polydactyly    asphyxiating thoracic dystrophy 4
    joubert syndrome and related disorders    asphyxiating thoracic dystrophy    infantile autosomal recessive medullary cystic kidney disease    sensenbrenner syndrome
    ellis-van creveld syndrome    nephronophthisis    progressive muscular atrophy    short-rib thoracic dysplasia 2 with or without polydactyly
    congenital nystagmus    bardet-biedl syndrome 10    bardet-biedl syndrome 13    bardet-biedl syndrome 1, modifier of
    bardet-biedl syndrome 9    bardet-biedl syndrome 15    bardet-biedl syndrome 12    bardet-biedl syndrome 1

    7 diseases from the University of Copenhagen DISEASES database for TTC21B:
    Asphyxiating thoracic dystrophy     Sensenbrenner syndrome     Seckel syndrome     Congenital nystagmus
    Nephronophthisis     Ellis-Van Creveld syndrome     Bardet-Biedl syndrome

    Find genes that share disorders with TTC21B           About GenesLikeMe

    Genetic Association Database (GAD): TTC21B
    Human Genome Epidemiology (HuGE) Navigator: TTC21B (1 document)

    Export disorders for TTC21B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TTC21B gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with TTC21B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. (PubMed id 21258341)1, 2, 3 Davis E.E.... Katsanis N. (Nat. Genet. 2011)
    2. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)1, 2, 3 Ohara O.... Koseki H. (DNA Res. 2002)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    5. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (PubMed id 22425360)2 Srour M....Michaud J.L. (Am. J. Hum. Genet. 2012)
    6. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. (PubMed id 21068128)1 Otto E.A.... Hildebrandt F. (J. Med. Genet. 2011)
    7. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PubMed id 20889716)2 Mukhopadhyay S....Jackson P.K. (Genes Dev. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79809 HGNC: 25660 AceView: FLJ11457 Ensembl:ENSG00000123607 euGenes: HUgn79809
    ECgene: TTC21B H-InvDB: TTC21B

    (According to HUGE)
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    HUGE: KIAA1992

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TTC21B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TTC21B gene:
    Search GeneIP for patents involving TTC21B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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