TTC21A (tetratricopeptide repeat domain 21A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
199223
Gene name Gene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat domain 21A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTC21A
Synonyms (NCBI Gene) Gene synonyms aliases
IFT139A, SPGF37, STI2, Thm2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.2
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611430 30761 ENSG00000168026
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
spermatogenic failure Spermatogenic failure 37 rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Non-Syndromic Male Infertility Due To Sperm Motility Disorder non-syndromic male infertility due to sperm motility disorder N/A N/A GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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