TTC29 (tetratricopeptide repeat domain 29)

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Gene Gene information from NCBI Gene database.
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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
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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
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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 Show/Hide all (12)
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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.
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MIM HGNC e!Ensembl
618735 29936 ENSG00000137473
Protein Protein information from UniProt database.
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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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Male infertility with spermatogenesis disorder Likely pathogenic rs759110348 RCV004018285
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1 Pathogenic rs1579787268 RCV005912199
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 42 Pathogenic rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268 RCV000993807
RCV000993808
RCV000993809
RCV000993810
RCV000993811
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (16)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE — GWAS catalog 37156939
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER — GWAS catalog 31488892
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA — GWAS catalog 31488892
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Non-syndromic male infertility due to sperm motility disorder Non-Syndromic Male Infertility Due To Sperm Motility Disorder Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 36941558 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 32034058 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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DNAH17 3 shared diseasesCongenital impairment of spermatozoa motility, Male infertility spermatogenesis disorder, Spermatogenic failure 5 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Male infertility spermatogenesis disorder), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 3 shared diseases including Congenital impairment of spermatozoa motility, Male infertility spermatogenesis disorder — evidence mostly Disgenet. SPACA1 2 shared diseasesCannabis abuse, Spermatogenic failure 4 shared evidence sourcesGWAS catalog (Cannabis abuse), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Cannabis abuse, Spermatogenic failure — evidence mostly GWAS catalog. CFAP70 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 4 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet. CFAP69 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 4 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet. FSIP2 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 4 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet.
Color vision deficiency Linked via 1 of 5 related genesDNAH17 Dilated cardiomyopathy Linked via 1 of 5 related genesDNAH17 Parkinson disease Linked via 1 of 5 related genesDNAH17 spermatogenic failure 39 Linked via 1 of 5 related genesDNAH17 Lung cancer Linked via 1 of 5 related genesSPACA1