KPNA7 (karyopherin subunit alpha 7)

Gene

• Entrez ID: 402569
• Gene name: Karyopherin subunit alpha 7
• Gene symbol: KPNA7
• Synonyms (NCBI Gene): IPOA8, OZEMA17
• 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

SNPs

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)

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

Other IDs

• MIM: 614107
• HGNC: 21839
• e!Ensembl: 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

Pathways

KEGG:

Nucleocytoplasmic transport
Influenza A
Chemical carcinogenesis - receptor activation

Reactome:

ISG15 antiviral mechanism
NS1 Mediated Effects on Host Pathways

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Oocyte/zygote/embryo maturation arrest 17	Pathogenic	rs1168254533, rs1241379065	RCV003219138 RCV003219139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KPNA7-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARTIAL CORPUS CALLOSUM AGENESIS, CEREBELLAR VERMIS HYPOPLASIA WITH POSTERIOR FOSSA CYSTS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL CORPUS CALLOSUM AGENESIS-CEREBELLAR VERMIS HYPOPLASIA WITH POSTERIOR FOSSA CYSTS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	24045845	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29580221		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29580221	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	24045845	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	24045845		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24045845	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24045845, 32179771	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile Spasm	Infantile Spasms	BEFREE	24045845		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29580221		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24275456		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24275456, 27664836, 29580221		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG	26633545		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	32179771	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24275456		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28611293	Associate	★☆☆☆☆ Found in Text Mining only
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia With Posterior Fossa Cysts Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasms Infantile	Infantile spasms	Pubtator	24045845	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	24045845	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	24045845		★☆☆☆☆ Found in Text Mining only