NKAP (NFKB activating protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79576
Gene name NFKB activating protein
Gene symbol NKAP
Synonyms (NCBI Gene)
MRXSHD
Chromosome X
Chromosome location Xq24
Summary 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 transcripti
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs1603379318 C>T Pathogenic Coding sequence variant, missense variant
rs1603379772 A>G Pathogenic Coding sequence variant, missense variant
rs1603379779 C>T Pathogenic Coding sequence variant, missense variant
rs1603379780 C>T Pathogenic Coding sequence variant, missense variant
rs1603379781 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
193
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (193)
miRTarBase ID miRNA Experiments Reference
MIRT021176 hsa-miR-186-5p Sequencing 20371350
MIRT022503 hsa-miR-124-3p Microarray 18668037
MIRT634518 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT634510 hsa-miR-5571-3p HITS-CLIP 23824327
MIRT634518 hsa-miR-1306-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 31587868
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 19409814
GO:0003682 Function Chromatin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300766 29873 ENSG00000101882
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5F7
Protein name NF-kappa-B-activating protein
Protein 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 an
PDB 6QDV , 7W5B , 8C6J , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15692 NKAP 120 → 208 Family
PF06047 Nkap_C 306 → 407 NF-kappa-B-activating protein C-terminal domain Domain
Sequence 
MAPVSGSRSPDREASGSGGRRRSSSKSPKPSKSARSPRGRRSRSHSCSRSGDRNGLTHQL
GGLSQGSRNQSYRSRSRSRSRERPSAPRGIPFASASSSVYYGSYSRPYGSDKPWPSLLDK
EREESLRQKRLSERERIGELGAPEVWGLSPKNPEPDSDEHTPVEDEEPKKSTTSASTSEE
EKKKKSSRSKERSKKRRKKKSSKRKHKKYSEDSDSDSDSETDSSDEDNKRRAKKAKKKEK
KKKHRSKKYKKKRSKKSRKESSDSSSKESQEEFLENPWKDRTKAEEPSDLIGPEAPKTLT
SQDDKPLNYGHALLPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIASFECSGYVMSGSRHR
RMEAVRLRKENQIYSADEKRALASFNQEERRKRENKILASFREMVYRKTKGKDDK
Sequence length 415
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene SNPs miRNA Gene ontology Other IDs Protein 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type Pathogenic rs2147845271, rs1603379772 RCV002250151
RCV001027522
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (4)
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
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Global developmental delay Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
NKAP-related disorder Benign; Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aneuploidy Aneuploidy Pubtator 27694884 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30464609
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27694884 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35963644 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 31545474
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35064112 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ewings sarcoma Ewing sarcoma BEFREE 31555387
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35064112 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 31277684
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay GENOMICS_ENGLAND_DG 31587868
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)