TTC21A (tetratricopeptide repeat domain 21A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 199223
Gene name Tetratricopeptide repeat domain 21A
Gene symbol TTC21A
Synonyms (NCBI Gene)
IFT139ASPGF37STI2Thm2
Chromosome 3
Chromosome location 3p22.2
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs750057655 A>G Pathogenic Non coding transcript variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs780431020 C>A,T Pathogenic Intron variant, stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1559674534 G>A Pathogenic Splice donor variant
rs1559708295 G>- Pathogenic 3 prime UTR variant, intron variant, non coding transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT019173 hsa-miR-335-5p Microarray 18185580
MIRT1461036 hsa-miR-1470 CLIP-seq
MIRT1461037 hsa-miR-4667-3p CLIP-seq
MIRT1461038 hsa-miR-587 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005929 Component Cilium IEA
GO:0007283 Process Spermatogenesis IEA
GO:0007286 Process Spermatid development IMP 30929735
GO:0030154 Process Cell differentiation IEA
GO:0030317 Process Flagellated sperm motility IMP 30929735
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611430 30761 ENSG00000168026
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NDW8
Protein name Tetratricopeptide repeat protein 21A (TPR repeat protein 21A) (Stress-inducible protein 2)
Protein function Intraflagellar transport (IFT)-associated protein required for spermatogenesis (PubMed:30929735). Required for sperm flagellar formation and intraflagellar transport (PubMed:30929735).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13432 TPR_16 732 → 795 Family
PF13181 TPR_8 797 → 825 Tetratricopeptide repeat Repeat
PF14559 TPR_19 899 → 966 Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in testis. {ECO:0000269|PubMed:12543795}.
Sequence 
MSSNDSSLMAGIIYYSQEKYFHHVQQAAAVGLEKFSNDPVLKFFKAYGVLKEEHIQDAIS
DLESIRHHPDVSLCSTMALIYAHKRCEIIDREAIQELEYSLKEIRKTVSGTALYYAGLFL
WLIGRHDKAKEYIDRMLKISRGFREAYVLRGWVDLTSDKPHTAKKAIEYLEQGIQDTKDV
LGLMGKAMYFMMQQNYSEALEVVNQITVTSGSFLPALVLKMQLFLARQDWEQTVEMGHRI
LEKDESNIDACQILTVHELAREGNMTTVSSLKTQKATNHVRNLIKALETREPENPSLHLK
KIIVVSRLCGSHQVILGLVCSFIERTFMATPSYVHVATELGYLFILKNQVKEALLWYSEA
MKLDKDGMAGLTGIILCHILEGHLEEAEYRLEFLKEVQKSLGKSEVLIFLQALLMSRKHK
GEEETTALLKEAVELHFSSMQGIPLGSEYFEKLDPYFLVCIAKEYLLFCPKQPRLPGQIV
SPLLKQVAVILNPVVKAAPALIDPLYLMAQVRYYSELENAQSILQRCLELDPASVDAHLL
MCQIYLAQGNFGMCFHCLELGVSHNFQVRDHPLYHLIKARALNKAGDYPEAIKTLKMVIK
LPALKKEEGRKFLRPSVQPSQRASILLELVEALRLNGELHEATKVMQDTINEFGGTPEEN
RITIANVDLVLSKGNVDVALNMLRNILPKQSCYMEAREKMANIYLQTLRDRRLYIRCYRE
LCEHLPGPHTSLLLGDALMSILEPEKALEVYDEAYRQNPHDASLASRIGHAYVKAHQYTE
AIEYYEAAQKINGQDFLCCDLGKLLLKLKKVNKAEKVLKQALEHDIVQDIPSMMNDVKCL
LLLAKVYKSHKKEAVIETLNKALDLQSRILKRVPLEQPEMIPSQKQLAASICIQFAEHYL
AEKEYDKAVQSYKDVFSYLPTDNKVMLELAQLYLLQGHLDLCEQHCAILLQTEQNHETAS
VLMADLMFRKQKHEAAINLYHQVLEKAPDNFLVLHKLIDLLRRSGKLEDIPAFFELAKKV
SSRVPLEPGFNYCRGIYCWHIGQPNEALKFLNKARKDSTWGQSAIYHMVQICLNPDNEVV
GGEAFENQGAESNYMEKKELEQQGVSTAEKLLREFYPHSDSSQTQLRLLQGLCRLATREK
ANMEAALGSFIQIAQAEKDSVPALLALAQAYVFLKQIPKARMQLKRLAKTPWVLSEAEDL
EKSWLLLADIYCQGSKFDLALELLRRCVQYNKSCYKAYEYMGFIMEKEQSYKDAVTNYKL
AWKYSHHANPAIGFKLAFNYLKDKKFVEAIEICNDVLREHPDYPKIREEILEKARRSLRP
Sequence length 1320
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Pathogenic rs148431487 RCV005897364
Lung cancer Pathogenic rs148431487 RCV005897366
Lymphoma Pathogenic rs148431487 RCV005897365
Spermatogenic failure 37 Pathogenic rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487 RCV000770961
RCV000770962
RCV000770963
RCV000770964
RCV000770965
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs9861353 RCV005938788
Malignant lymphoma, large B-cell, diffuse Benign rs77348972 RCV005933389
Malignant tumor of urinary bladder Benign rs77348972 RCV005933388
Sarcoma Benign rs77348972 RCV005933390
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35254116
Carcinogenesis Associate 38151293
Carcinoma Renal Cell Associate 24977159
Neoplasms Inhibit 38151293
Papillomavirus Infections Inhibit 38151293
Sjogren's Syndrome Associate 37383223
Squamous Cell Carcinoma of Head and Neck Associate 38151293