Gene Gene information from NCBI Gene database.
Entrez ID 728741
Gene name Nuclear pore complex interacting protein family member B6
Gene symbol NPIPB6
Synonyms (NCBI Gene)
NPIPB
Chromosome 16
Chromosome location 16p12.1
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.
E9PJ23
Protein name Nuclear pore complex-interacting protein family member B6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06409 NPIP 41 201 Family
PF06409 NPIP 198 302 Family
Sequence
MVKLSIVLTPQFLSHDQSQLTKELQQHVKSVTCPCEYLRKVINSLAVYRHRETDFGVGVR
DHPGQHGKTPSPQKLDNLIIIIIGFLRRYTFNILFCTSCLCVSFLKTIFWSRNGHDGSMD
VQQRAWRSNRSRQKGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKV
TTKINRHDKINGKRKTA
RKQKMFQRAQELRRRAEDYHKCKIPPSARKPLCNWVRMVAAEH
RHSSGLPYWPYLTAETLKNRMGRQPPPPTQQHSITDNSLSLKTPTECLLTPLPPSVDDNI
KE
CPLAPLPPSPLPPSVDDNLKECLFVPLPPSPLPPSVDDNLKTPPLATQEAEVEKPPKP
KRWRVDEVEQSPKPKRRRVDEVEQSPKPKRQREAEAQQLPKPKRRRLSKLRTRHCTQAWA
IRINP
Sequence length 425
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations