Gene Gene information from NCBI Gene database.
Entrez ID 102723899
Gene name PTTG1IP family member 2
Gene symbol PTTG1IP2
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q21.13
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DTF9
Protein name PTTG1IP family member 2
Family and domains
Sequence
MCWLRAWGQILLPVFLSLFLIQLLISFSENGFIHSPRNNQKPRDGNEEECAVKKSCQLCT
EDKKCVWCSEEKACKKYCFPYFGCRFSSIYWLNCKVDMFGIMMLLLIAVLITGFVWYCCA
YHFYLQDLNRNRVYFYGRRETVPIHDRSATVYDE
Sequence length 154
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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.
Phenotype Name Clinical Significance Source Evidence Score
RETINOPATHY OF PREMATURITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations