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    TTC21B tetratricopeptide repeat domain 21B [ Homo sapiens (human) ]

    Gene ID: 79809, updated on 12-Aug-2022

    Summary

    Official Symbol
    TTC21Bprovided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 21Bprovided by HGNC
    Primary source
    HGNC:HGNC:25660
    See related
    Ensembl:ENSG00000123607 MIM:612014; AllianceGenome:HGNC:25660
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATD4; THM1; FAP60; FLA17; SRTD4; IFT139; JBTS11; NPHP12; IFT139B; Nbla10696
    Summary
    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]
    Expression
    Ubiquitous expression in prostate (RPKM 1.9), ovary (RPKM 1.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TTC21B in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (165873362..165953776, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (166330866..166411321, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166729872..166810286, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 3 Neighboring gene uncharacterized LOC124906086 Neighboring gene uncharacterized LOC100506124 Neighboring gene TTC21B antisense RNA 1 Neighboring gene uncharacterized LOC102724058 Neighboring gene sodium voltage-gated channel alpha subunit 1 Neighboring gene SCN1A and SCN9A antisense RNA 1 Neighboring gene RN7SK pseudogene 152

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11457

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Bergmann glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellar Purkinje cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IC
    Inferred by Curator
    more info
    PubMed 
    involved_in forebrain dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intraciliary retrograde transport IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in cilium IC
    Inferred by Curator
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intraciliary transport particle A IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    tetratricopeptide repeat protein 21B
    Names
    Nephronophthisis type12
    TPR repeat protein 21B
    intraflagellar transport 139 homolog
    putative protein product of Nbla10696
    tetratricopeptide repeat-containing hedgehog modulator-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030345.1 RefSeqGene

      Range
      5063..85477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024753.5NP_079029.3  tetratricopeptide repeat protein 21B

      See identical proteins and their annotated locations for NP_079029.3

      Status: REVIEWED

      Source sequence(s)
      AC011241, AK292942, BC035767, BC055424, BX114229, CK905149
      Consensus CDS
      CCDS33315.1
      UniProtKB/Swiss-Prot
      Q7Z4L5, Q9HAK8
      UniProtKB/TrEMBL
      A8KA77
      Related
      ENSP00000243344.7, ENST00000243344.8
      Conserved Domains (4) summary
      TIGR02917
      Location:48550
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:722750
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:721784
      TPR_11; TPR repeat
      pfam14559
      Location:895961
      TPR_19; Tetratricopeptide repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      165873362..165953776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445870.1XP_047301826.1  tetratricopeptide repeat protein 21B isoform X2

    2. XM_011511871.4XP_011510173.1  tetratricopeptide repeat protein 21B isoform X3

      Conserved Domains (3) summary
      sd00006
      Location:472500
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:471534
      TPR_11; TPR repeat
      pfam14559
      Location:645711
      TPR_19; Tetratricopeptide repeat
    3. XM_017004967.2XP_016860456.1  tetratricopeptide repeat protein 21B isoform X1

      UniProtKB/TrEMBL
      A0A7P0TB61
      Related
      ENSP00000506449.1, ENST00000681024.1
    4. XM_006712761.2XP_006712824.1  tetratricopeptide repeat protein 21B isoform X4

      UniProtKB/TrEMBL
      A0A7P0TA66
      Related
      ENSP00000505921.1, ENST00000680448.1
      Conserved Domains (5) summary
      COG0457
      Location:90355
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:722750
      TPR; TPR repeat [structural motif]
      pfam12895
      Location:770857
      ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:721784
      TPR_11; TPR repeat
      pfam14559
      Location:895961
      TPR_19; Tetratricopeptide repeat
    5. XM_011511872.3XP_011510174.1  tetratricopeptide repeat protein 21B isoform X5

      Related
      ENSP00000505499.1, ENST00000681483.1
      Conserved Domains (5) summary
      TIGR02917
      Location:48550
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:722750
      TPR; TPR repeat [structural motif]
      pfam12895
      Location:770857
      ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
      pfam13414
      Location:721784
      TPR_11; TPR repeat
      pfam14559
      Location:505571
      TPR_19; Tetratricopeptide repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      166330866..166411321 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)