TTC29 (tetratricopeptide repeat domain 29)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 83894
Gene name Tetratricopeptide repeat domain 29
Gene symbol TTC29
Synonyms (NCBI Gene)
NYD-SP14SPGF42TBPP2A
Chromosome 4
Chromosome location 4q31.22
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs763399136 G>A,T Pathogenic Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs766352190 CCTCC>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs1489738488 G>A,C Pathogenic Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained, synonymous variant
rs1579486914 C>T Pathogenic Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant
rs1579951018 ATTATGTACATCTT>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT019129 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IBA
GO:0003341 Process Cilium movement IDA 31735292
GO:0003341 Process Cilium movement IMP 31735294
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
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
618735 29936 ENSG00000137473
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.
Q8NA56
Protein name Tetratricopeptide repeat protein 29 (TPR repeat protein 29) (Protein TBPP2A) (Testis development protein NYD-SP14)
Protein function Axonemal protein which is implicated in axonemal and/or peri-axonemal structure assembly and regulates flagellum assembly and beating and therefore sperm motility.
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13424 TPR_12 313 → 383 Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level). {ECO:0000269|PubMed:31735292, ECO:0000269|PubMed:31735294}.
Sequence 
MTTLPPLPMTRPKLTALARQKLPCSSRKIPRSQLIKEKDDIDHYLEVNFKGLSKEEVAAY
RNSYKKNICVDMLRDGYHKSFTELFALMERWDALREAARVRSLFWLQKPLEEQPDKLDYL
YHYLTRAEDAERKESFEDVHNNLYALACYFNNSEDKWVRNHFYERCFKIAQLIKIDCGKK
EAEAHMHMGLLYEEDGQLLEAAEHYEAFHQLTQGRIWKDETGRSLNLLACESLLRTYRLL
SDKMLENKEYKQAIKILIKASEIAKEGSDKKMEAEASYYLGLAHLAAEEYETALTVLDTY
CKISTDLDDDLSLGRGYEAIAKVLQSQGEMTEAIKYLKKFVKIARNNFQSLDLVRASTML
GDIYNEKGYYNKASECFQQAFDTTVELMSMPLMDETKVHYGIAKAHQMMLTVNNYIESAD
LTSLNYLLSWKESRGNIEPDPVTEEFRGSTVEAVSQNSERLEELSRFPGDQKNET
Sequence length 475
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 (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility with spermatogenesis disorder Likely pathogenic rs759110348 RCV004018285
Papillary renal cell carcinoma type 1 Pathogenic rs1579787268 RCV005912199
Spermatogenic failure 42 Pathogenic rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268 RCV000993807
RCV000993808
RCV000993809
RCV000993810
RCV000993811
RCV000993812
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ovarian Neoplasms Associate 36941558
Stomach Neoplasms Associate 32034058