TTC34 (tetratricopeptide repeat domain 34)

Gene

• Entrez ID: 100287898
• Gene name: Tetratricopeptide repeat domain 34
• Gene symbol: TTC34
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p36.32

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: A8MYJ7
• Protein name: Tetratricopeptide repeat protein 34 (TPR repeat protein 34)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13432	TPR_16	292 → 340		Family
  PF13432	TPR_16	310 → 375		Family
  PF13432	TPR_16	468 → 545		Family

• Sequence:

  MLQRSPRAGPSRAQGRREAAETGGPTTQEGVACGVHQLATLLMELDSEDEASRLLAADAL
  YRLGRLEETHKALLVALSRRPQAAPVLARLALLQLRRGFFYDANQLVKKLVQSGDTACLQ
  PTLDVFCHEDRQLLQGHCHARALAILRARPGGADGRVHTKEAIAYLSLAIFAAGSQASES
  LLARARCYGFLGQKKTAMFDFNTVLRAEPGNVQALCGRALVHLALDQLQEAVDDIVSALK
  LGPGTVVPELRSLKPEAQALITQGLYSHCRALLSQLPDTGAPLEDKDTQGLLAVGEALIK
  IDSGQPHWHLLLADILMAQGSYEEAGTHLEKALHRAPTSEAARARLGLLQLKKGDVPGAA
  RDLQSLAEVDAPDLSCLLHLLEASERQSLAQAAAQEAGTLLDAGQPRQALGYCSLSVLAS
  GSSACHLRLRATCLAELQEFGRALRDLDHVLQEALGDGDLPRRAEDFCRQGRLLLSLGDE
  AAAAGAFAQALKLAPSLAQNSLCRQPGRAPTARMFLLRGQCCLEEQRHAEAWTAVESGLL
  VDPDHRGLKRLKARIRREASSGCWLQ

• Sequence length: 566

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCTION SYSTEM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24988487		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29953444		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	29953444	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	40598468	Associate	★☆☆☆☆ Found in Text Mining only