Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
402569
Gene name Gene Name - the full gene name approved by the HGNC.
Karyopherin subunit alpha 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KPNA7
Synonyms (NCBI Gene) Gene synonyms aliases
IPOA8, OZEMA17
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OZEMA17
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusio
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs138176387 C>T Conflicting-interpretations-of-pathogenicity Intron variant
rs760378316 G>A Uncertain-significance, pathogenic Upstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20701745
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm IBA 21873635
GO:0005654 Component Nucleoplasm TAS
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614107 21839 ENSG00000185467
Protein
UniProt ID A9QM74
Protein name Importin subunit alpha-8 (Karyopherin subunit alpha-7)
Protein function Functions in nuclear protein import.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01749 IBB 10 92 Importin beta binding domain Family
PF00514 Arm 102 143 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 145 185 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 187 228 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 231 270 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 272 312 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 314 354 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 356 396 Armadillo/beta-catenin-like repeat Repeat
PF16186 Arm_3 448 499 Atypical Arm repeat Family
Sequence
Sequence length 516
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Nucleocytoplasmic transport
Influenza A
Chemical carcinogenesis - receptor activation
  ISG15 antiviral mechanism
NS1 Mediated Effects on Host Pathways
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
26633545
Unknown
Disease term Disease name Evidence References Source
Oocyte Maturation Defect oocyte/zygote/embryo maturation arrest 17 GenCC
Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia With Posterior Fossa Cysts Syndrome partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome GenCC
Ulcerative colitis Ulcerative colitis GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 24045845
Breast Neoplasms Inhibit 29580221
Cerebellar Diseases Associate 24045845
Developmental Disabilities Associate 24045845
Disease Associate 24045845
Epilepsy Associate 24045845, 32179771
Lennox Gastaut Syndrome Associate 24045845
Neoplasms Associate 29580221
Neurodevelopmental Disorders Associate 32179771
Pancreatic Neoplasms Associate 28611293