NPIPB8 (nuclear pore complex interacting protein family member B8)

Gene Gene information from NCBI Gene database.
Gene Other IDs Protein Associated diseases
Entrez ID 728734
Gene name Nuclear pore complex interacting protein family member B8
Gene symbol NPIPB8
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16p11.2
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
E9PQR5
Protein name Nuclear pore complex-interacting protein family member B8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06409 NPIP 41 → 201 Family
PF06409 NPIP 198 → 302 Family
Sequence 
MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINSLAVYRHRETDFGVGVR
DHPGQHGKTPSPQKLDNLIIIIIGFLRCYTFNILFCTSCLCVSFLKTIFWSRNGHDGSMD
VQQRAWRSNRSRQKGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKV
TTKINRHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKPLCNWVRMAAAEH
RHSSGLPYWLYLTAETLKNRMGRQPPPPTQQHSITDNSLSLKTPPECLLTPLPPSVDDNI
KECPLAPLPPSPLPPSVDDNLKECLFVPLPPSPLPPSVDDNLKECLFVPLPPSPLPPSVD
DNLKTPPLATQEAEVEKPPKPKRWRVDEVEQSPKPKRQREAEAQQLPKPKRRRLSKLRTR
HCTQAWAIRINP
Sequence length 432
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene 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 (1)
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
INSOMNIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations