Gene Gene information from NCBI Gene database.
Entrez ID 222698
Gene name NFKB activating protein like
Gene symbol NKAPL
Synonyms (NCBI Gene)
C6orf194bA424I5.1
Chromosome 6
Chromosome location 6p22.1
miRNA miRNA information provided by mirtarbase database.
55
miRTarBase ID miRNA Experiments Reference
MIRT663507 hsa-miR-873-3p HITS-CLIP 23313552
MIRT684694 hsa-miR-6867-5p HITS-CLIP 23313552
MIRT663506 hsa-miR-3672 HITS-CLIP 23313552
MIRT663505 hsa-miR-6864-3p HITS-CLIP 23313552
MIRT663504 hsa-miR-6818-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5M9Q1
Protein name NKAP-like protein
Protein function Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15692 NKAP 109 204 Family
PF06047 Nkap_C 293 394 NF-kappa-B-activating protein C-terminal domain Domain
Sequence
MPPVSRSSYSEDIVGSRRRRRSSSGSPPSPQSRCSSWDGCSRSHSRGREGLRPPWSELDV
GALYPFSRSGSRGRLPRFRNYAFASSWSTSYSGYRYHRHCYAEERQSAEDYEKEESHRQR
RLKERERIGELGAPEVWGPSPKFPQLDSDEHTPVEDEEEVTHQKSSSSDSNSEEHRKKKT
SRSRNKKKRKNKSSKRKHRKYSDS
DSNSESDTNSDSDDDKKRVKAKKKKKKKKHKTKKKK
NKKTKKESSDSSCKDSEEDLSEATWMEQPNVADTMDLIGPEAPIIHTSQDEKPLKYGHAL
LPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIGSFECSGYVMSGSRHRRMEAVRLRKENQI
YSADEKRALASFNQEERRKRESKILASFREMVHK
KTKEKDDK
Sequence length 402
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 23223422 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29353445
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29353445
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 19503088
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 22037552, 24972756, 26297123
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia GWASDB_DG 22037552
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia CTD_human_DG 22037552
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia GWASCAT_DG 22037552
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms Stomach neoplasms Pubtator 29923336 Associate
★☆☆☆☆
Found in Text Mining only