TMEM171 (transmembrane protein 171)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 134285
Gene name Transmembrane protein 171
Gene symbol TMEM171
Synonyms (NCBI Gene)
PRP2
Chromosome 5
Chromosome location 5q13.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32814053
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVE6
Protein name Transmembrane protein 171
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15471 TMEM171 2 → 319 Transmembrane protein family 171 Family
Sequence
Sequence length 324
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (8)
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.
Phenotype Name Clinical Significance Source Evidence Score
CHOLELITHIASIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cleft Lip Cleft lip Pubtator 35191549 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 35191549 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hyperuricemia Hyperuricemia GWASCAT_DG 29124443
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Otofaciocervical Syndrome Otofaciocervical syndrome Pubtator 35191549 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Thyroid Cancer Papillary Papillary thyroid cancer Pubtator 36211409 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only