Format

Send to:

Choose Destination

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

Gene ID: 79809, updated on 17-Jun-2019

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
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; 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

Genomic context

See TTC21B in Genome Data Viewer
Location:
2q24.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (165873362..165953781, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166729872..166810348, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373730 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11457

Gene Ontology Provided by GOA

Process Evidence Code Pubs
forebrain dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
ventricular system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary tip TAS
Traceable Author Statement
more info
 
cilium TAS
Traceable Author Statement
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport particle A IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport particle A IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
tetratricopeptide repeat protein 21B
Names
TPR repeat protein 21B
intraflagellar transport 139 homolog
putative protein product of Nbla10696

NCBI Reference Sequences (RefSeq)

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
    5001..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
    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 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    165873362..165953781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511872.2XP_011510174.1  tetratricopeptide repeat protein 21B isoform X6

    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
  2. XM_017004969.1XP_016860458.1  tetratricopeptide repeat protein 21B isoform X5

  3. XM_011511871.3XP_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
  4. XM_017004968.2XP_016860457.1  tetratricopeptide repeat protein 21B isoform X2

  5. XM_017004967.1XP_016860456.1  tetratricopeptide repeat protein 21B isoform X1

  6. XM_006712761.1XP_006712824.1  tetratricopeptide repeat protein 21B isoform X4

    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
Support Center