TTC27 (tetratricopeptide repeat domain 27)

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Gene Gene information from NCBI Gene database.
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Entrez ID 55622
Gene name Tetratricopeptide repeat domain 27
Gene symbol TTC27
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p22.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29513927, 31046837
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
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.
Q6P3X3
Protein name Tetratricopeptide repeat protein 27 (TPR repeat protein 27)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07719 TPR_2 562 → 594 Tetratricopeptide repeat Repeat
Sequence 
MWTPELAILRGFPTEAERQQWKQEGVVGSESGSFLQLLLEGNYEAIFLNSMTQNIFNSTT
TAEEKIDSYLEKQVVTFLDYSTDLDTTERQQLIFLLGVSSLQLFVQSNWTGPPVDLHPQD
FLSSVLFQQFSEVKGLDAFVLSLLTLDGESIYSLTSKPILLLLARIILVNVRHKLTAIQS
LPWWTLRCVNIHQHLLEERSPLLFTLAENCIDQVMKLQNLFVDDSGRYLAIQFHLECAYV
FLYYYEYRKAKDQLDIAKDISQLQIDLTGALGKRTRFQENYVAQLILDVRREGDVLSNCE
FTPAPTPQEHLTKNLELNDDTILNDIKLADCEQFQMPDLCAEEIAIILGICTNFQKNNPV
HTLTEVELLAFTSCLLSQPKFWAIQTSALILRTKLEKGSTRRVERAMRQTQALADQFEDK
TTSVLERLKIFYCCQVPPHWAIQRQLASLLFELGCTSSALQIFEKLEMWEDVVICYERAG
QHGKAEEILRQELEKKETPSLYCLLGDVLGDHSCYDKAWELSRYRSARAQRSKALLHLRN
KEFQECVECFERSVKINPMQLGVWFSLGCAYLALEDYQGSAKAFQRCVTLEPDNAEAWNN
LSTSYIRLKQKVKAFRTLQEALKCNYEHWQIWENYILTSTDVGEFSEAIKAYHRLLDLRD
KYKDVQVLKILVRAVIDGMTDRSGDVATGLKGKLQELFGRVTSRVTNDGEIWRLYAHVYG
NGQSEKPDENEKAFQCLSKAYKCDTQSNCWEKDITSFKEVVQRALGLAHVAIKCSKNKSS
SQEAVQMLSSVRLNLRGLLSKAKQLFTDVATGEMSRELADDITAMDTLVTELQDLSNQFR
NQY
Sequence length 843
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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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)
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 (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog 28196072
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMORRHOID — GWAS catalog 33888516
★★★★★
★★☆☆☆
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
Alopecia Alopecia GWASCAT_DG 28196072
★★★★★
★☆☆☆☆
Found in Text Mining only
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TLCD5 2 shared diseasesSeborrheic keratosis, Skin disease 2 shared evidence sourcesGWAS catalog (Seborrheic keratosis), GWAS catalog (Skin disease) Related via 2 shared diseases including Seborrheic keratosis, Skin disease — evidence mostly GWAS catalog. ANKRD50 2 shared diseasesSeborrheic keratosis, Skin disease 2 shared evidence sourcesGWAS catalog (Seborrheic keratosis), GWAS catalog (Skin disease) Related via 2 shared diseases including Seborrheic keratosis, Skin disease — evidence mostly GWAS catalog. SEMA4B 2 shared diseasesSeborrheic keratosis, Skin disease 2 shared evidence sourcesGWAS catalog (Seborrheic keratosis), GWAS catalog (Skin disease) Related via 2 shared diseases including Seborrheic keratosis, Skin disease — evidence mostly GWAS catalog. POU2F3 2 shared diseasesSeborrheic keratosis, Skin disease 2 shared evidence sourcesGWAS catalog (Seborrheic keratosis), GWAS catalog (Skin disease) Related via 2 shared diseases including Seborrheic keratosis, Skin disease — evidence mostly GWAS catalog. KRT6A 2 shared diseasesSeborrheic keratosis, Skin disease 2 shared evidence sourcesGWAS catalog (Seborrheic keratosis), GWAS catalog (Skin disease) Related via 2 shared diseases including Seborrheic keratosis, Skin disease — evidence mostly GWAS catalog.
Coronary artery disease Linked via 2 of 5 related genesTLCD5, ANKRD50 Melanoma Linked via 2 of 5 related genesTLCD5, POU2F3 Open angle glaucoma Linked via 1 of 5 related genesTLCD5 Color vision deficiency Linked via 1 of 5 related genesANKRD50 Schizophrenia Linked via 1 of 5 related genesANKRD50