Gene Gene information from NCBI Gene database.
Entrez ID 3839
Gene name Karyopherin subunit alpha 3
Gene symbol KPNA3
Synonyms (NCBI Gene)
IPOA4SPG88SRP1SRP1gammaSRP4hSRP1
Chromosome 13
Chromosome location 13q14.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
614
miRTarBase ID miRNA Experiments Reference
MIRT001447 hsa-miR-16-5p pSILAC 18668040
MIRT001447 hsa-miR-16-5p Proteomics;Other 18668040
MIRT049397 hsa-miR-92a-3p CLASH 23622248
MIRT068854 hsa-miR-219a-1-3p HITS-CLIP 21572407
MIRT522810 hsa-miR-455-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10523667, 15057270, 16189514, 17500595, 19412186, 19447967, 20701745, 21516116, 21988832, 23816991, 25416956, 25910212, 26382858, 26496610, 28611246, 29370303, 30833792, 32296183, 32814053, 33060197, 33961781, 34564892, 35016035, 35271311, 39251607
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005643 Component Nuclear pore IEA
GO:0005643 Component Nuclear pore TAS 9154134
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601892 6396 ENSG00000102753
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00505
Protein name Importin subunit alpha-4 (Importin alpha Q2) (Qip2) (Karyopherin subunit alpha-3) (SRP1-gamma)
Protein function Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01749 IBB 11 93 Importin beta binding domain Family
PF00514 Arm 103 144 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 146 186 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 188 229 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 232 271 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 273 313 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 315 355 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 357 397 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 400 440 Armadillo/beta-catenin-like repeat Repeat
PF16186 Arm_3 447 499 Atypical Arm repeat Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest levels in heart and skeletal muscle.
Sequence
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport
Salmonella infection
Chemical carcinogenesis - receptor activation
  ISG15 antiviral mechanism
NS1 Mediated Effects on Host Pathways
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spastic paraplegia 88, autosomal dominant Pathogenic; Likely pathogenic rs2541635988, rs2541636062, rs2541632753, rs2541636017, rs2541632016 RCV002302858
RCV002302859
RCV002302860
RCV002302861
RCV002302862
★★★★★
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 29250154
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29250154
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 28370949
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30098595
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37575080 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Major depressive disorder Pubtator 22960338 Associate
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis IGA Iga nephropathy Pubtator 24284509 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 31417635
★☆☆☆☆
Found in Text Mining only
Machado-Joseph Disease Machado-Joseph Disease BEFREE 29476013
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression BEFREE 22960338
★★☆☆☆
Found in Text Mining + Unknown/Other Associations