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This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been ide... See more...
Aliases for NKAP Gene
Aliases for NKAP Gene
External Ids for NKAP Gene
- HGNC: 29873
- NCBI Entrez Gene: 79576
- Ensembl: ENSG00000101882
- OMIM®: 300766
- UniProtKB/Swiss-Prot: Q8N5F7
Previous GeneCards Identifiers for NKAP Gene
- GC0XM117813
- GC0XM118840
- GC0XM118943
- GC0XM119059
- GC0XM108555
- GC0XM119927
- GC0XM119943
- GC0XM119958
- GC0XM119967
Summaries for NKAP Gene
-
This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]
GeneCards Summary for NKAP Gene
NKAP (NFKB Activating Protein) is a Protein Coding gene. Diseases associated with NKAP include Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type and Fryns Syndrome. Among its related pathways are Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include chromatin DNA binding. An important paralog of this gene is NKAPL.
UniProtKB/Swiss-Prot Summary for NKAP Gene
-
Acts as a transcriptional repressor (PubMed:14550261, PubMed:19409814, PubMed:31587868). Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development (PubMed:19409814). Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.
Additional gene information for NKAP Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NKAP Gene
Genomics for NKAP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NKAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NKAP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NKAP
- Top Transcription factor binding sites by QIAGEN in the NKAP gene promoter:
-
- aMEF-2
- AP-1
- ATF-2
- c-Jun
- C/EBPbeta
- GATA-1
- MEF-2A
- NRF-2
- p53
- SRY
Genomic Locations for NKAP Gene
Latest Assembly
- chrX:119,920,672-119,943,751
- (GRCh38/hg38)
- Size:
- 23,080 bases
- Orientation:
- Minus strand
Previous Assembly
- chrX:119,054,635-119,077,714
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 23,080 bases
- Orientation:
- Minus strand
Genomic View for NKAP Gene
Genes around NKAP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq24 by HGNC
- Xq24 by Entrez Gene
- Xq24 by Ensembl
NKAP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NKAP Gene
Proteins for NKAP Gene
-
Protein details for NKAP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N5F7-NKAP_HUMAN
- Recommended name:
- NF-kappa-B-activating protein
- Protein Accession:
- Q8N5F7
- Q6IPW6
- Q96BQ2
- Q9H638
Protein attributes for NKAP Gene
- Size:
- 415 amino acids
- Molecular mass:
- 47138 Da
- Quaternary structure:
-
- Component of the Notch corepressor complex. Interacts with CIR1 and HDAC3.
- SequenceCaution:
-
- Sequence=AAH71686.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Protein Expression for NKAP Gene
Post-translational modifications for NKAP Gene
Other Protein References for NKAP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ NKAP Antibody
-
Custom Antibody ServicesOriGene Antibodies for NKAP
- Novus Biologicals Antibodies for NKAP
-
Abcam antibodies for NKAP
- Invitrogen Antibodies for NKAP (AFLGC-NKAP)
-
Boster Bio Antibodies for NKAP
-
Custom Antibody ServicesProSci Antibodies for NKAP
Protein products for research
-
OriGene Purified Proteins for NKAP
- Search Origene for MassSpec and Protein Over-expression Lysates for NKAP
- Origene Custom Protein Services for NKAP
Assay products for research
No data available for DME Specific Peptides for NKAP Gene
Domains & Families for NKAP Gene
Gene Families for NKAP Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for NKAP Gene
- GenScript: Design optimal peptide antigens:
-
- NKAP protein (A0PJ73_HUMAN)
- NF-kappa-B-activating protein (NKAP_HUMAN)
- NKAP protein (Q05D22_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8N5F7- Family:
-
- Belongs to the NKAP family.
Function for NKAP Gene
Molecular function for NKAP Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a transcriptional repressor (PubMed:14550261, PubMed:19409814, PubMed:31587868). Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development (PubMed:19409814). Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.
Phenotypes From GWAS Catalog for NKAP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IEA,IDA | 19409814 |
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0005515 | protein binding | IPI | 19409814 |
Phenotypes for NKAP Gene
- MGI mutant phenotypes for NKAP:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for NKAP:
-
- Decreased viability
- no effect
- Decreased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased NF-kappaB reporter expression
- Increased IL-8 secretion
- Synthetic lethal with Ras
- Decreased viability of wild-type and TP53 knockout cells
- Increased gamma-H2AX phosphorylation
- Increased Nanog expression
- Increased G2M DNA content
- Decreased homologous recombination repair frequency
- Two nuclei (binuclear)
- Cell division defect
- Increased number of mitotic cells
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NKAP - Starting at $85 >
- * NKAP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NKAP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NKAP
-
Santa Cruz Biotechnology (SCBT) CRISPR for NKAP
miRNA for NKAP Gene
- miRTarBase miRNAs that target NKAP
-
- hsa-miR-186-5p (MIRT021176)
- hsa-miR-124-3p (MIRT022503)
- hsa-miR-550a-5p (MIRT326188)
- hsa-miR-550a-3-5p (MIRT326189)
- hsa-miR-1271-3p (MIRT326190)
- hsa-miR-887-5p (MIRT522272)
- hsa-miR-6855-5p (MIRT522273)
- hsa-miR-3170 (MIRT522274)
- hsa-miR-6780a-5p (MIRT522275)
- hsa-miR-6779-5p (MIRT522276)
- hsa-miR-3689c (MIRT522277)
- hsa-miR-3689b-3p (MIRT522278)
- hsa-miR-3689a-3p (MIRT522279)
- hsa-miR-30b-3p (MIRT522280)
- hsa-miR-1273h-5p (MIRT522281)
- hsa-miR-6788-5p (MIRT522282)
- hsa-miR-30c-2-3p (MIRT522283)
- hsa-miR-30c-1-3p (MIRT522284)
- hsa-miR-4425 (MIRT522285)
- hsa-miR-92a-1-5p (MIRT522286)
- hsa-miR-193b-5p (MIRT522287)
- hsa-miR-4767 (MIRT522288)
- hsa-miR-7155-5p (MIRT522289)
- hsa-miR-6852-5p (MIRT522290)
- hsa-miR-6765-3p (MIRT522291)
- hsa-miR-3622b-3p (MIRT522292)
- hsa-miR-3622a-3p (MIRT522293)
- hsa-miR-5089-5p (MIRT522294)
- hsa-miR-7851-3p (MIRT522295)
- hsa-miR-6807-5p (MIRT522296)
- hsa-miR-7151-3p (MIRT522297)
- hsa-miR-5095 (MIRT522298)
- hsa-miR-5589-5p (MIRT522299)
- hsa-miR-4731-5p (MIRT522300)
- hsa-miR-661 (MIRT522301)
- hsa-miR-3116 (MIRT522302)
- hsa-miR-1254 (MIRT522303)
- hsa-miR-6506-5p (MIRT522304)
- hsa-miR-619-5p (MIRT522305)
- hsa-miR-3922-3p (MIRT522306)
- hsa-miR-3176 (MIRT522307)
- hsa-miR-6504-3p (MIRT522308)
- hsa-miR-4438 (MIRT522309)
- hsa-miR-1273e (MIRT566614)
- hsa-miR-7847-3p (MIRT566615)
- hsa-miR-6880-5p (MIRT566616)
- hsa-miR-6851-5p (MIRT566617)
- hsa-miR-3689d (MIRT566618)
- hsa-miR-6894-5p (MIRT566619)
- hsa-miR-765 (MIRT566620)
- hsa-miR-7154-3p (MIRT566621)
- hsa-miR-766-5p (MIRT566622)
- hsa-miR-6134 (MIRT566623)
- hsa-miR-1233-3p (MIRT566624)
- hsa-miR-1225-3p (MIRT566625)
- hsa-miR-6840-3p (MIRT566626)
- hsa-miR-665 (MIRT566627)
- hsa-miR-4459 (MIRT566628)
- mmu-miR-467e-5p (MIRT586485)
- mmu-miR-467h (MIRT586486)
- mmu-miR-466k (MIRT586487)
- mmu-miR-466i-5p (MIRT586488)
- mmu-miR-466l-5p (MIRT586489)
- mmu-miR-466d-5p (MIRT586490)
- hsa-miR-106a-3p (MIRT630344)
- hsa-miR-4430 (MIRT630345)
- hsa-miR-3652 (MIRT630346)
- hsa-miR-122-5p (MIRT630347)
- hsa-miR-504-3p (MIRT630348)
- hsa-miR-3135b (MIRT630349)
- hsa-miR-454-3p (MIRT630350)
- hsa-miR-4295 (MIRT630351)
- hsa-miR-3666 (MIRT630352)
- hsa-miR-301b-3p (MIRT630353)
- hsa-miR-301a-3p (MIRT630354)
- hsa-miR-130b-3p (MIRT630355)
- hsa-miR-130a-3p (MIRT630356)
- hsa-miR-513b-3p (MIRT630357)
- hsa-miR-5571-3p (MIRT634510)
- hsa-miR-4284 (MIRT634511)
- hsa-miR-4772-3p (MIRT634512)
- hsa-miR-4638-5p (MIRT634513)
- hsa-miR-1307-3p (MIRT634514)
- hsa-miR-1304-3p (MIRT634515)
- hsa-miR-6741-3p (MIRT634516)
- hsa-miR-6890-3p (MIRT634517)
- hsa-miR-1306-5p (MIRT634518)
- hsa-miR-498 (MIRT638502)
- hsa-miR-101-3p (MIRT761074)
- hsa-miR-1228-3p (MIRT761431)
- hsa-miR-1827 (MIRT763079)
- hsa-miR-1910-3p (MIRT763314)
- hsa-miR-2467-3p (MIRT764110)
- hsa-miR-25-3p (MIRT764174)
- hsa-miR-32-5p (MIRT765589)
- hsa-miR-3612 (MIRT765930)
- hsa-miR-363-3p (MIRT766194)
- hsa-miR-367-3p (MIRT766633)
- hsa-miR-377-5p (MIRT767439)
- hsa-miR-4257 (MIRT768147)
- hsa-miR-4537 (MIRT770180)
- hsa-miR-455-3p (MIRT770380)
- hsa-miR-4695-5p (MIRT771209)
- hsa-miR-500a-3p (MIRT772971)
- hsa-miR-5186 (MIRT773507)
- hsa-miR-582-5p (MIRT775325)
- hsa-miR-6086 (MIRT775570)
- hsa-miR-6499-3p (MIRT776323)
- hsa-miR-650 (MIRT776688)
- hsa-miR-6511a-5p (MIRT776813)
- hsa-miR-6516-5p (MIRT777175)
- hsa-miR-655-5p (MIRT777307)
- hsa-miR-767-5p (MIRT781946)
- hsa-miR-92a-3p (MIRT782685)
- hsa-miR-92b-3p (MIRT782724)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NKAP
- Browse OriGene Inhibitory RNA Products For NKAP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKAP
Clone products for research
- Applied Biological Materials (abm): Clones for NKAP - Starting at $45 >
- * NKAP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NKAP
- Addgene plasmids for NKAP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NKAP
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NKAP Gene
Localization for NKAP Gene
Subcellular locations from UniProtKB/Swiss-Prot for NKAP Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nucleoplasm (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for NKAP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch Signaling Pathway (WikiPathways) | ||
Pathways by source for NKAP Gene
1 R&D Systems pathway for NKAP Gene
Interacting Proteins for NKAP Gene
Selected Interacting proteins:
Q8N5F7-NKAP_HUMAN
ENSP00000360464
for NKAP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NKAP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 31587868 |
| GO:0007219 | Notch signaling pathway | IEA | -- |
| GO:0010468 | regulation of gene expression | IBA | 21873635 |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA | 19409814 |
| GO:0046638 | positive regulation of alpha-beta T cell differentiation | IMP | 19409814 |
No data available for SIGNOR curated interactions for NKAP Gene
Transcripts for NKAP Gene
mRNA/cDNA for NKAP Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000371410 5942 nts (view in UCSC)
- ENST00000455986 810 nts (view in UCSC)
- ENST00000477789 2345 nts (view in UCSC)
- ENST00000482407 763 nts (view in UCSC)
- ENST00000652253 1394 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NKAP - Starting at $85 >
- * NKAP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NKAP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NKAP
-
Santa Cruz Biotechnology (SCBT) CRISPR for NKAP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NKAP
- Browse OriGene Inhibitory RNA Products For NKAP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKAP
Clone products for research
- Applied Biological Materials (abm): Clones for NKAP - Starting at $45 >
- * NKAP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NKAP
- Addgene plasmids for NKAP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NKAP
Relevant External Links for NKAP Gene
- GeneLoc Exon Structure for
- NKAP
Expression for NKAP Gene
This gene is overexpressed in Adrenal (23.0), Fetal ovary (13.6), Monocytes (10.0), and CD4 Tcells (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NKAP Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NKAP
SOURCE GeneReport for Unigene cluster for NKAP Gene:
Hs.522771Evidence on tissue expression from TISSUES for NKAP Gene
- Intestine(4.3)
- Spleen(2.3)
- Liver(2.1)
- Nervous system(2.1)
- Kidney(2)
Primer products for research
-
OriGene qPCR primer pairs for NKAP
-
OriGene qPCR primer pairs and template standards for NKAP
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NKAP Gene
Orthologs for NKAP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NKAP 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NKAP 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NKAP 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Nkap 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nkap 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | NKAP 30 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | nuc06-A-prov 29 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.11365 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nkap 30 |
|
OneToMany | |
| wufj36d09 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6066 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | let-504 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for NKAP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for NKAP Gene
- ENSEMBL:
- Gene Tree for NKAP (if available)
- TreeFam:
- Gene Tree for NKAP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NKAP: view image
- Alliance of Genome Resources:
- Additional Orthologs for NKAP
Paralogs for NKAP Gene
Variants for NKAP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NKAP Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1603379318 | Pathogenic: Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type | 119,925,386(-) |
C/T NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln) |
MISSENSE | |
| rs1603379772 | Pathogenic: Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type | 119,930,079(-) |
A/G NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr) |
MISSENSE | |
| rs1603379779 | Pathogenic: Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type | 119,930,091(-) |
C/T NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) |
MISSENSE | |
| rs1603379780 | Pathogenic: Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type | 119,930,100(-) |
C/T NM_024528.4(NKAP):c.989G>A (p.Arg330His) |
MISSENSE | |
| rs1603379781 | Uncertain Significance: Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type; Inborn genetic diseases | 119,930,101(-) |
G/A NM_024528.4(NKAP):c.988C>T (p.Arg330Cys) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.04;
68.69% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NKAP Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKAP Gene
Disorders for NKAP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type |
|
|
| fryns syndrome |
|
|
Search NKAP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NKAP_HUMAN- Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039]: An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies. {ECO:0000269 PubMed:26358559, ECO:0000269 PubMed:31587868}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for NKAP
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for NKAP Gene
Publications for NKAP Gene
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. (PMID: 31587868) Fiordaliso SK … Izumi K (American journal of human genetics 2019) 3 4 72
- Identification of a nuclear protein that promotes NF-kappaB activation. (PMID: 14550261) Chen D … Shu HB (Biochemical and biophysical research communications 2003) 2 3 4
- Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? (PMID: 26358559) Hackmann K … Di Donato N (American journal of medical genetics. Part A 2016) 4 72
- Association of genetic profiles to Crohn's disease by linear combinations of single nucleotide polymorphisms. (PMID: 18804983) D'Addabbo A … Ancona N (Artificial intelligence in medicine 2009) 3 40
- NKAP is a transcriptional repressor of notch signaling and is required for T cell development. (PMID: 19409814) Pajerowski AG … Shapiro VS (Immunity 2009) 3 4
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Products for NKAP Gene
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- antibodies-online: Show 16 available NKAP Antibodies ranked by validation data
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Sources for NKAP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (31) euGenes
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- (65) Reactome
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- (69) GenomeRNAi
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- (73) Invitrogen
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- (88) CYP
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- (92) GeneReviews
- (93) GeneTex
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- (102) diseasecard
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