Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
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

Show/Hide all(2)

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

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0005515	Function	Protein binding	IPI	20701745, 36647821
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	36647821
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	NAS	20818336
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	NAS	20818336
GO:0005829	Component	Cytosol	TAS
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006606	Process	Protein import into nucleus	ISS
GO:0006607	Process	NLS-bearing protein import into nucleus	IBA
GO:0008139	Function	Nuclear localization sequence binding	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0015031	Process	Protein transport	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0042564	Component	NLS-dependent protein nuclear import complex	IEA
GO:0042564	Component	NLS-dependent protein nuclear import complex	IPI	20701745
GO:0061608	Function	Nuclear import signal receptor activity	IBA
GO:0061608	Function	Nuclear import signal receptor activity	IEA

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

MPTLDAPEERRRKFKYRGKDVSLRRQQRMAVSLELRKAKKDEQTLKRRNITSFCPDTPSE
KTAKGVAVSLTLGEIIKGVNSSDPVLCFQATQTARKMLSQEKNPPLKLVIEAGLIPRMVE
FLKSSLYPCLQFEAAWALTNIASGTSEQTRAVVEGGAIQPLIELLSSSNVAVCEQAVWAL
GNIAGDGPEFRDNVITSNAIPHLLALISPTLPITFLRNITWTLSNLCRNKNPYPCDTAVK
QILPALLHLLQHQDSEVLSDACWALSYLTDGSNKRIGQVVNTGVLPRLVVLMTSSELNVL
TPSLRTVGNIVTGTDEQTQMAIDAGMLNVLPQLLQHNKPSIQKEAAWALSNVAAGPCHHI
QQLLAYDVLPPLVALLKNGEFKVQKEAVWMVANFATGATMDQLIQLVHSGVLEPLVNLLT
APDVKIVLIILDVISCILQAAEKRSEKENLCLLIEELGGIDRIEALQLHENRQIGQSALN
IIEKHFGEEEDESQTLLSQVIDQDYEFIDYECLAKK

Sequence length

516

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport Influenza A Chemical carcinogenesis - receptor activation		ISG15 antiviral mechanism NS1 Mediated Effects on Host Pathways

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Lymphocytic Leukemia	Chronic lymphocytic leukemia	N/A	N/A	GWAS
Mental retardation	Intellectual disability, mild	N/A	N/A	ClinVar
Oocyte Maturation Defect	Oocyte/zygote/embryo maturation arrest 17, oocyte/zygote/embryo maturation arrest 17	N/A	N/A	ClinVar, 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	N/A	N/A	GenCC
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Spasms Infantile	Associate	24045845
Spinocerebellar Ataxia 29	Associate	24045845

KPNA7 (karyopherin subunit alpha 7)