KANSL2 (KAT8 regulatory NSL complex subunit 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 54934
Gene name KAT8 regulatory NSL complex subunit 2
Gene symbol KANSL2
Synonyms (NCBI Gene)
C12orf41NSL2
Chromosome 12
Chromosome location 12q13.11
miRNA miRNA information provided by mirtarbase database.
3
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miRTarBase ID miRNA Experiments Reference
MIRT023036 hsa-miR-124-3p Microarray 18668037
MIRT049803 hsa-miR-92a-3p CLASH 23622248
MIRT047386 hsa-miR-34a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 Show/Hide all (16)
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GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IDA 20018852
GO:0000123 Component Histone acetyltransferase complex IEA
GO:0005515 Function Protein binding IPI 24788516, 24981860, 27705803
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
615488 26024 ENSG00000139620
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H9L4
Protein name KAT8 regulatory NSL complex subunit 2 (NSL complex protein NSL2) (Non-specific lethal 2 homolog)
Protein function Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (Pub
PDB 4CY2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13891 zf-C3Hc3H 28 → 92 Potential DNA-binding domain Domain
PF13891 zf-C3Hc3H 302 → 364 Potential DNA-binding domain Domain
Sequence 
MNRIRIHVLPTNRGRITPVPRSQEPLSCAFTHRPCSHPRLEGQEFCIKHILEDKNAPFKQ
CSYISTKNGKRCPNAAPKPEKKDGVSFCAEHVRRNALALHAQMKKTNPGPVGETLLCQLS
SYAKTELGSQTPESSRSEASRILDEDSWSDGEQEPITVDQTWRGDPDSEADSIDSDQEDP
LKHAGVYTAEEVALIMREKLIRLQSLYIDQFKRLQHLLKEKKRRYLHNRKVEHEALGSSL
LTGPEGLLAKERENLKRLKCLRRYRQRYGVEALLHRQLKERRMLATDGAAQQAHTTRSSQ
RCLAFVDDVRCSNQSLPMTRHCLTHICQDTNQVLFKCCQGSEEVPCNKPVPVSLSEDPCC
PLHFQLPPQMYKPEQVLSVPDDLEAGPMDLYLSAAELQPTESLPLEFSDDLDVVGDGMQC
PPSPLLFDPSLTLEDHLVKEIAEDPVDILGQMQMAGDGCRSQGSRNSEKASAPLSQSGLA
TANGKPEPTSIS
Sequence length 492
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
HATs acetylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Reference Evidence Score
Intellectual disability Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Autistic Disorder Autism Pubtator 32108986 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32001790 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35191804 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 35973998 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for KANSL2.

No additional diseases found yet through genes similar to KANSL2.