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Aliases for TTC21B Gene

Aliases for TTC21B Gene

  • Tetratricopeptide Repeat Domain 21B 2 3 5
  • TPR Repeat Protein 21B 3 4
  • Putative Protein Product Of Nbla10696 3
  • Tetratricopeptide Repeat Protein 21B 3
  • Nbla10696 3
  • KIAA1992 4
  • IFT139B 3
  • IFT139 3
  • JBTS11 3
  • NPHP12 3
  • SRTD4 3
  • ATD4 3
  • THM1 3

External Ids for TTC21B Gene

Previous GeneCards Identifiers for TTC21B Gene

  • GC02M166491
  • GC02M166713
  • GC02M158612

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. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. An important paralog of this gene is MIR6822.

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

Regulatory Elements for TTC21B Gene

Enhancers for TTC21B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F166092 0.7 Ensembl ENCODE 4.8 -139.4 -139421 0.9 JUN FOS NFE2L2 TTC21B PIR59662 GC02M166073
GH02F165952 1.1 ENCODE 0.8 -0.2 -217 3.4 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GALNT3 LOC102724058 LOC101929680 TTC21B
GH02F165950 0.7 Ensembl 0.8 +3.1 3143 0.2 GATAD2A SOX5 PKNOX1 SAP130 CEBPB CEBPG ZNF48 ZGPAT CEBPA PBX2 TTC21B TTC21B-AS1
GH02F166034 0.3 FANTOM5 1.4 -80.5 -80475 0.4 SCN1A LOC101929680 LOC102724058 TTC21B GC02M166073
GH02F165606 0.3 FANTOM5 1.4 +347.3 347346 0.2 CSRNP3 SCN3A TTC21B SCN2A GC02P165687
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC21B on UCSC Golden Path with GeneCards custom track

Promoters for TTC21B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000017016 43 2801 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for TTC21B Gene

Chromosome:
2
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

Genes around TTC21B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC21B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC21B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TTC21B Gene

  • Ubiquitination at Lys 184 and Lys 308
  • Modification sites at PhosphoSitePlus

Other Protein References for TTC21B Gene

No data available for DME Specific Peptides for TTC21B Gene

Domains & Families for TTC21B Gene

Protein Domains for TTC21B Gene

Suggested Antigen Peptide Sequences for TTC21B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z4L5

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for TTC21B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TTC21B Gene

MGI Knock Outs for TTC21B:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTC21B gene
Compartment Confidence
cytoskeleton 4
mitochondrion 2
nucleus 2
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 IEA,IBA --
GO:0030991 intraciliary transport particle A IDA 20889716
genes like me logo Genes that share ontologies with TTC21B: view

Pathways & Interactions for TTC21B Gene

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

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:0007224 smoothened signaling pathway IEA --
GO:0008589 regulation of smoothened signaling pathway IEA --
GO:0021591 ventricular system development IEA --
GO:0021798 forebrain dorsal/ventral pattern formation IEA --
genes like me logo Genes that share ontologies with TTC21B: view

No data available for SIGNOR curated interactions for TTC21B Gene

Transcripts for TTC21B Gene

Unigene Clusters for TTC21B Gene

Tetratricopeptide repeat domain 21B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for TTC21B Gene

Protein differential expression in normal tissues from HIPED for TTC21B Gene

This gene is overexpressed in Plasma (19.7), Pancreatic juice (13.7), Liver (10.3), and Ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTC21B Gene



NURSA nuclear receptor signaling pathways regulating expression of TTC21B Gene:

TTC21B

SOURCE GeneReport for Unigene cluster for TTC21B Gene:

Hs.310672
genes like me logo Genes that share expression patterns with TTC21B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TTC21B Gene

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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia TTC21B 34 35
  • 90.07 (n)
cow
(Bos Taurus)
Mammalia TTC21B 34 35
  • 89.67 (n)
rat
(Rattus norvegicus)
Mammalia Ttc21b 34
  • 84.03 (n)
oppossum
(Monodelphis domestica)
Mammalia TTC21B 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc21b 34 16 35
  • 83.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTC21B 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC21B 34 35
  • 75.29 (n)
lizard
(Anolis carolinensis)
Reptilia TTC21B 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc21b 34
  • 72.42 (n)
zebrafish
(Danio rerio)
Actinopterygii ttc21b 34 35
  • 65.57 (n)
sbcb947 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000136 34
  • 46.79 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK328.7 34 35
  • 47.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13610 34
Species where no ortholog for TTC21B was found in the sources mined by GeneCards:
  • 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

(1) 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
rs140511594 Nephronophthisis 12 (NPHP12) [MIM:613820], Pathogenic 165,941,111(+) AGCTC(A/G)GAAAA intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs146320075 Nephronophthisis 12 (NPHP12) [MIM:613820], Uncertain significance 165,917,459(+) TCAAA(C/T)GGTAT reference, missense
rs149925563 Bardet-Biedl syndrome (BBS) [MIM:209900], Nephronophthisis 12 (NPHP12) [MIM:613820], Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819], Pathogenic 165,941,046(+) AACTG(A/T)CTGGT intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs185089786 Bardet-Biedl syndrome (BBS) [MIM:209900], Pathogenic 165,929,290(+) TTGTC(A/C/G)TTTAT reference, missense, stop-gained
rs189519760 Bardet-Biedl syndrome (BBS) [MIM:209900] 165,883,855(+) ATTGA(A/C)TGTAA reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv1149755 CNV insertion 26484159
nsv507045 OTHER sequence alteration 20534489
nsv834445 CNV gain+loss 17160897

Variation tolerance for TTC21B Gene

Residual Variation Intolerance Score: 67.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.63; 72.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC21B Gene

Human Gene Mutation Database (HGMD)
TTC21B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC21B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC21B Gene

Disorders for TTC21B Gene

MalaCards: The human disease database

(14) MalaCards diseases for TTC21B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 12
  • nphp12, joubert syndrome 11, jbts11
short-rib thoracic dysplasia 4 with or without polydactyly
  • asphyxiating thoracic dystrophy 4
nephronophthisis 2, infantile
  • nephronophthisis 2
short-rib thoracic dysplasia 1 with or without polydactyly
  • asphyxiating thoracic dystrophy
joubert syndrome and related disorders
  • jsrd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TT21B_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.

Relevant External Links for TTC21B

Genetic Association Database (GAD)
TTC21B
Human Genome Epidemiology (HuGE) Navigator
TTC21B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC21B
genes like me logo Genes that share disorders with TTC21B: view

No data available for Genatlas for TTC21B Gene

Publications for TTC21B Gene

  1. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. (PMID: 21258341) Davis E.E. … Katsanis N. (Nat. Genet. 2011) 2 3 4 64
  2. 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 64
  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 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TTC21B Gene

Sources for TTC21B Gene

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