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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 Reference Evidence Score
RETINOPATHY OF PREMATURITY — GWAS catalog 38233474
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations