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Gene Gene information from NCBI Gene database.
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.
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.
E9PQR5
Protein name Nuclear pore complex-interacting protein family member B8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06409 NPIP 198 → 302 Family
PF06409 NPIP 41 → 201 Family
Sequence
MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINSLAVYRHRETDFGVGVR
DHPGQHGKTPSPQKLDNLIIIIIGFLRCYTFNILFCTSCLCVSFLKTIFWSRNGHDGSMD
VQQRAWRSNRSRQKGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKV
TTKINRHDKINGKRKTA
RKQKMFQRAQELRRRAEDYHKCKIPPSARKPLCNWVRMAAAEH
RHSSGLPYWLYLTAETLKNRMGRQPPPPTQQHSITDNSLSLKTPPECLLTPLPPSVDDNI
KE
CPLAPLPPSPLPPSVDDNLKECLFVPLPPSPLPPSVDDNLKECLFVPLPPSPLPPSVD
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
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
INSOMNIA — GWAS catalog 34343768
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations