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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	402569
Gene name	Karyopherin subunit alpha 7
Gene symbol	KPNA7
Synonyms (NCBI Gene)	IPOA8OZEMA17
Chromosome	7
Chromosome location	7q22.1
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

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

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Oocyte/zygote/embryo maturation arrest 17	Pathogenic	rs1168254533, rs1241379065	RCV003219138 RCV003219139

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Uncertain significance	rs953759927	RCV005909047
Cholangiocarcinoma	Uncertain significance	rs200308603	RCV005899482
Familial cancer of breast	Uncertain significance; Benign	rs571947684, rs147552597	RCV005923933 RCV005899565
Hepatocellular carcinoma	Benign	rs147552597	RCV005899566
KPNA7-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs1397313357, rs976179206, rs760702690, rs191355534, rs755764756, rs147552597, rs112225309, rs367610693, rs371485396, rs77084640, rs116916633, rs201383698, rs144059555, rs371196094, rs202200015, rs746388880 View all (1 more)	RCV003965827 RCV003980448 RCV004757496 RCV004730911 RCV003946733 RCV004757234 RCV004757233 RCV003942559 RCV003928351 RCV004757294 RCV003918323 RCV003965646 RCV003928349 RCV003948110 RCV003948142 RCV003898055
Mild intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs797045052, rs760378316	RCV000191103 RCV000191102

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)