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Aliases for TTC21B Gene

Aliases for TTC21B Gene

  • Tetratricopeptide Repeat Domain 21B 2 3
  • TPR Repeat Protein 21B 3 4
  • NPHP12 3 6
  • SRTD4 3 6
  • ATD4 3 6
  • THM1 3 6
  • Putative Protein Product Of Nbla10696 3
  • Tetratricopeptide Repeat Protein 21B 3
  • Nbla10696 3
  • KIAA1992 4
  • IFT139 3
  • JBTS11 3

External Ids for TTC21B Gene

Summaries for TTC21B Gene

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 short-rib thoracic dysplasia 4 with or without polydactyly. An important paralog of this gene is TTC21A.

UniProtKB/Swiss-Prot for TTC21B Gene

  • Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Negatively modulates the SHH signal transduction (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC21B Gene

Genomics for TTC21B Gene

Genomic Location for TTC21B Gene

Start:
165,857,475 bp from pter
End:
165,953,843 bp from pter
Size:
96,369 bases
Orientation:
Minus strand

Genomic View for TTC21B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTC21B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC21B Gene

Regulatory Elements for TTC21B Gene

Proteins for TTC21B Gene

  • Protein details for TTC21B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4L5-TT21B_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 21B
    Protein Accession:
    Q7Z4L5
    Secondary Accessions:
    • A8MUZ3
    • Q3LIE4
    • Q53T84
    • Q6P4A1
    • Q6PIF5
    • Q8NCN3
    • Q96MA4
    • Q9HAK8

    Protein attributes for TTC21B Gene

    Size:
    1316 amino acids
    Molecular mass:
    150937 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A).
    SequenceCaution:
    • Sequence=AAY14750.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB13836.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC21B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC21B Gene

Proteomics data for TTC21B Gene at MOPED

Post-translational modifications for TTC21B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys184 and Lys308

Other Protein References for TTC21B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTC21B Gene

Domains for TTC21B Gene

Gene Families for TTC21B Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing
  • IFT :Intraflagellar transport homologs

Protein Domains for TTC21B Gene

UniProtKB/Swiss-Prot:

TT21B_HUMAN
Family:
  • Belongs to the TTC21 family.:
    • Q7Z4L5
Similarity:
  • Contains 19 TPR repeats.:
    • Q7Z4L5
genes like me logo Genes that share domains with TTC21B: view

Function for TTC21B Gene

Molecular function for TTC21B Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for TTC21B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TTC21B: view

Phenotypes for TTC21B Gene

genes like me logo Genes that share phenotypes with TTC21B: view

miRNA for TTC21B Gene

miRTarBase miRNAs that target TTC21B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TTC21B Gene

Localization for TTC21B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC21B Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTC21B Gene COMPARTMENTS Subcellular localization image for TTC21B gene
Compartment Confidence
cytoskeleton 3
cytosol 2

Gene Ontology (GO) - Cellular Components for TTC21B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IBA --
GO:0030991 intraciliary transport particle A IDA 20889716
genes like me logo Genes that share ontologies with TTC21B: view

Pathways for TTC21B Gene

SuperPathways for TTC21B Gene

No Data Available

Interacting Proteins for TTC21B Gene

Gene Ontology (GO) - Biological Process for TTC21B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter IMP 22302990
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway IEA --
GO:0008589 regulation of smoothened signaling pathway IEA --
GO:0021591 ventricular system development IEA --
genes like me logo Genes that share ontologies with TTC21B: view

No data available for Pathways by source for TTC21B Gene

Transcripts for TTC21B Gene

Unigene Clusters for TTC21B Gene

Tetratricopeptide repeat domain 21B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTC21B Gene

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:
SP6:
SP7:
SP8:

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:
SP6: -
SP7:
SP8: -

Relevant External Links for TTC21B Gene

GeneLoc Exon Structure for
TTC21B
ECgene alternative splicing isoforms for
TTC21B

Expression for TTC21B Gene

mRNA expression in normal human tissues for TTC21B Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC21B Gene

SOURCE GeneReport for Unigene cluster for TTC21B Gene Hs.310672

genes like me logo Genes that share expressions with TTC21B: view

Orthologs for TTC21B Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC21B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC21B 36
  • 99.52 (n)
  • 99.54 (a)
TTC21B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTC21B 36
  • 89.67 (n)
  • 91.19 (a)
TTC21B 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC21B 36
  • 90.07 (n)
  • 90.05 (a)
TTC21B 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc21b 36
  • 83.5 (n)
  • 85.93 (a)
Ttc21b 16
Ttc21b 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC21B 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC21B 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc21b 36
  • 84.03 (n)
  • 86.08 (a)
chicken
(Gallus gallus)
Aves TTC21B 36
  • 75.29 (n)
  • 76.12 (a)
TTC21B 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC21B 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc21b 36
  • 72.42 (n)
  • 77.08 (a)
zebrafish
(Danio rerio)
Actinopterygii sbcb947 36
ttc21b 36
  • 65.57 (n)
  • 68.65 (a)
ttc21b 37
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000136 36
  • 46.79 (n)
  • 41.07 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK328.7 36
  • 47.38 (n)
  • 31.92 (a)
ZK328.7 37
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13610 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 46 (a)
OneToMany
Species with no ortholog for TTC21B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTC21B Gene

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

Paralogs for TTC21B Gene

Paralogs for TTC21B Gene

Selected SIMAP similar genes for TTC21B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TTC21B: view

Variants for TTC21B Gene

Sequence variations from dbSNP and Humsavar for TTC21B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs714705 -- 165,894,129(+) CATTA(A/G)AGCAG intron-variant, utr-variant-3-prime
rs717301 -- 165,893,926(-) TGGCC(A/G)CAAAT intron-variant, utr-variant-3-prime
rs749773 -- 165,877,228(+) AATAG(C/T)GCTCT intron-variant
rs874099 -- 165,916,075(+) CCCAG(C/G/T)AGTTT intron-variant
rs891818 -- 165,886,829(+) TGAGA(A/C)GCGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC21B Gene

Variant ID Type Subtype PubMed ID
nsv834445 CNV Gain+Loss 17160897
nsv507045 CNV Insertion 20534489

Relevant External Links for TTC21B Gene

HapMap Linkage Disequilibrium report
TTC21B
Human Gene Mutation Database (HGMD)
TTC21B

Disorders for TTC21B Gene

(2) OMIM Diseases for TTC21B Gene (612014)

UniProtKB/Swiss-Prot

TT21B_HUMAN
  • 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. {ECO:0000269 PubMed:21258341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:21258341}. 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. {ECO:0000269 PubMed:21258341}. 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. {ECO:0000269 PubMed:21258341, ECO:0000269 PubMed:22425360}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTC21B

Genetic Association Database (GAD)
TTC21B
Human Genome Epidemiology (HuGE) Navigator
TTC21B
genes like me logo Genes that share disorders with TTC21B: view

Publications for TTC21B Gene

  1. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O. … Koseki H. (DNA Res. 2002) 2 3 4
  2. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. (PMID: 21258341) Davis E.E. … Katsanis N. (Nat. Genet. 2011) 2 3 4
  3. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PMID: 20889716) Mukhopadhyay S. … Jackson P.K. (Genes Dev. 2010) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for TTC21B Gene

Sources for TTC21B Gene

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