TTC29 (tetratricopeptide repeat domain 29)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83894
Gene name Gene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat domain 29
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTC29
Synonyms (NCBI Gene) Gene synonyms aliases
NYD-SP14, SPGF42, TBPP2A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPGF42
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.22
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IDA 31735292
GO:0003341 Process Cilium movement IMP 31735294
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0036126 Component Sperm flagellum IDA 31735292
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
618735 29936 ENSG00000137473
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Non-syndromic male infertility due to sperm motility disorder Non-syndromic male infertility due to sperm motility disorder rs753307279
Show/Hide Unknown Diseases (8)
Unknown
Disease term Disease name Evidence References Source
Spermatogenic Failure spermatogenic failure 42 GenCC
Non-Syndromic Male Infertility Due To Sperm Motility Disorder non-syndromic male infertility due to sperm motility disorder GenCC
Coronary Heart Disease Coronary Heart Disease GWAS
Cervical Cancer Cervical Cancer Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2). GWAS, CBGDA
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Ovarian Neoplasms Associate 36941558
Stomach Neoplasms Associate 32034058