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Aliases for TTC21B Gene

Aliases for TTC21B Gene

  • Tetratricopeptide Repeat Domain 21B 2 3 5
  • Intraflagellar Transport 139 Homolog 3 4
  • TPR Repeat Protein 21B 3 4
  • IFT139 3 4
  • Putative Protein Product Of Nbla10696 3
  • Tetratricopeptide Repeat Protein 21B 3
  • Nbla10696 3
  • KIAA1992 4
  • IFT139B 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 Intraflagellar transport. 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).

Additional gene information for TTC21B Gene

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

Genomics for TTC21B Gene

GeneHancer (GH) Regulatory Elements for TTC21B Gene

Promoters and enhancers for TTC21B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I165952 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.2 -217 3.4 HDGF CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 TTC21B GALNT3 LOC102724058 LOC101929680
GH02I166410 Enhancer 1 Ensembl ENCODE 15.4 -457.6 -457568 2.3 PKNOX1 NFRKB FEZF1 ZBTB40 NCOA2 EGR1 FOS ATF7 CEBPB HDAC8 TTC21B ENSG00000232411 SCN9A ENSG00000283657 GC02M166405 GC02M166406 SCN7A
GH02I166092 Enhancer 0.6 Ensembl ENCODE 4.8 -139.4 -139441 0.9 JUN FOS TTC21B PIR59662 GC02M166073 SCN1A LOC101929680 LOC102724058
GH02I166034 Enhancer 0.2 FANTOM5 1.4 -80.5 -80474 0.4 SCN1A LOC101929680 LOC102724058 TTC21B GC02M166073
GH02I165606 Enhancer 0.2 FANTOM5 1.4 +347.3 347345 0.2 CSRNP3 SCN3A TTC21B SCN2A GC02P165687
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTC21B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC21B gene promoter:

Genomic Locations for TTC21B Gene

Genomic Locations for TTC21B Gene
96,369 bases
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:
    Recommended name:
    Tetratricopeptide repeat protein 21B
    Protein Accession:
    Secondary Accessions:
    • A8MUZ3
    • Q3LIE4
    • Q53T84
    • Q6P4A1
    • Q6PIF5
    • Q8NCN3
    • Q96MA4
    • Q9HAK8

    Protein attributes for TTC21B Gene

    1316 amino acids
    Molecular mass:
    150937 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A) (PubMed:20889716). Interacts with TTC25 (PubMed:25860617).
    • 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


neXtProt entry for TTC21B Gene

Post-translational modifications for TTC21B Gene

  • Ubiquitination at posLast=184184 and isoforms=2308
  • 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

Gene 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



  • Belongs to the TTC21 family.
  • Belongs to the TTC21 family.
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).

Phenotypes From GWAS Catalog for TTC21B Gene

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

Clone 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

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 TAS --
GO:0030991 intraciliary transport particle A IEA,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

Pathways by source for TTC21B Gene

Gene Ontology (GO) - Biological Process for TTC21B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II 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

Drugs & Compounds for TTC21B Gene

No Compound Related Data Available

Transcripts for TTC21B Gene

Unigene Clusters for TTC21B Gene

Tetratricopeptide repeat domain 21B:
Representative Sequences:

Clone 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: -

ExUns: 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35
SP1: - - -
SP3: - - - -
SP6: -
SP8: -

Relevant External Links for TTC21B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TTC21B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for TTC21B Gene:


Evidence on tissue expression from TISSUES for TTC21B Gene

  • Nervous system(4.3)
  • Adrenal gland(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC21B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • pelvis
  • penis
  • testicle
  • ureter
  • urinary bladder
  • vagina
  • vulva
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TTC21B: view

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
(Pan troglodytes)
Mammalia TTC21B 33 34
  • 99.52 (n)
(Canis familiaris)
Mammalia TTC21B 33 34
  • 90.07 (n)
(Bos Taurus)
Mammalia TTC21B 33 34
  • 89.67 (n)
(Rattus norvegicus)
Mammalia Ttc21b 33
  • 84.03 (n)
(Monodelphis domestica)
Mammalia TTC21B 34
  • 84 (a)
(Mus musculus)
Mammalia Ttc21b 33 16 34
  • 83.5 (n)
(Ornithorhynchus anatinus)
Mammalia TTC21B 34
  • 77 (a)
(Gallus gallus)
Aves TTC21B 33 34
  • 75.29 (n)
(Anolis carolinensis)
Reptilia TTC21B 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc21b 33
  • 72.42 (n)
(Danio rerio)
Actinopterygii ttc21b 33 34
  • 65.57 (n)
sbcb947 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000136 33
  • 46.79 (n)
(Caenorhabditis elegans)
Secernentea ZK328.7 33 34
  • 47.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13610 33
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

Gene Tree for TTC21B (if available)
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 Variation AA Info Type
rs10176588 conflicting-interpretations-of-pathogenicity, benign, not specified, Joubert syndrome, Jeune thoracic dystrophy 165,913,610(-) A/G coding_sequence_variant, synonymous_variant
rs1040877016 12 (NPHP12) [MIM:613820] 165,883,978(-) T/C 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1060504949 likely-benign, Jeune thoracic dystrophy, Nephronophthisis 165,874,767(-) A/G 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs111867313 benign, Joubert syndrome, Jeune thoracic dystrophy 165,953,850(-) C/T upstream_transcript_variant
rs112868646 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Jeune thoracic dystrophy, Joubert syndrome, Nephronophthisis 165,931,814(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant

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)

Additional Variant Information for TTC21B Gene

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

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

Disorders for TTC21B Gene

MalaCards: The human disease database

(17) MalaCards diseases for TTC21B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards


  • 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.

Additional Disease Information for TTC21B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EE … Katsanis N (Nature genetics 2011) 2 3 4 58
  2. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O … Koseki H (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 2 3 4 58
  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 PK (Genes & development 2010) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Contribution of the TTC21B gene to glomerular and cystic kidney diseases. (PMID: 26940125) Bullich G … Ars E (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2017) 3 58

Products for TTC21B Gene

Sources for TTC21B Gene

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