Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9706
Gene name Gene Name - the full gene name approved by the HGNC.
Unc-51 like autophagy activating kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ULK2
Synonyms (NCBI Gene) Gene synonyms aliases
ATG1B, Unc51.2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a cen
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1060499754 T>C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016824 hsa-miR-335-5p Microarray 18185580
MIRT709362 hsa-miR-6823-5p HITS-CLIP 19536157
MIRT709361 hsa-miR-146a-3p HITS-CLIP 19536157
MIRT709360 hsa-miR-301a-5p HITS-CLIP 19536157
MIRT709359 hsa-miR-301b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000166 Function Nucleotide binding IEA
GO:0000407 Component Phagophore assembly site IBA
GO:0000423 Process Mitophagy IBA
GO:0004672 Function Protein kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608650 13480 ENSG00000083290
Protein
UniProt ID Q8IYT8
Protein name Serine/threonine-protein kinase ULK2 (EC 2.7.11.1) (Unc-51-like kinase 2)
Protein function Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback lo
PDB 6QAT , 6QAU , 6QAV , 6YID
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 9 271 Protein kinase domain Domain
PF12063 DUF3543 842 1032 Domain of unknown function (DUF3543) Family
Sequence
MEVVGDFEYSKRDLVGHGAFAVVFRGRHRQKTDWEVAIKSINKKNLSKSQILLGKEIKIL
KELQHENIVALYDVQELPNSVFLVMEYCNGGDLADYLQAKGTLSEDTIRVFLHQIAAAMR
ILHSKGIIHRDLKPQNILLSYANRRKSSVSGIRIKIADFGFARYLHSNMMAATLCGSPMY
MAPEVIMSQHYDAKADLWSIGTVIYQCLVGKPPFQANSPQDLRMFYEKNRSLMPSIPRET
SPYLANLLLGLLQRNQKDRMDFEAFFSHPFL
EQGPVKKSCPVPVPMYSGSVSGSSCGSSP
SCRFASPPSLPDMQHIQEENLSSPPLGPPNYLQVSKDSASTSSKNSSCDTDDFVLVPHNI
SSDHSCDMPVGTAGRRASNEFLVCGGQCQPTVSPHSETAPIPVPTQIRNYQRIEQNLTST
ASSGTNVHGSPRSAVVRRSNTSPMGFLRPGSCSPVPADTAQTVGRRLSTGSSRPYSPSPL
VGTIPEQFSQCCCGHPQGHDSRSRNSSGSPVPQAQSPQSLLSGARLQSAPTLTDIYQNKQ
KLRKQHSDPVCPSHTGAGYSYSPQPSRPGSLGTSPTKHLGSSPRSSDWFFKTPLPTIIGS
PTKTTAPFKIPKTQASSNLLALVTRHGPAEEQSKDGNEPRECAHCLLVQGSERQRAEQQS
KAVFGRSVSTGKLSDQQGKTPICRHQGSTDSLNTERPMDIAPAGACGGVLAPPAGTAASS
KAVLFTVGSPPHSAAAPTCTHMFLRTRTTSVGPSNSGGSLCAMSGRVCVGSPPGPGFGSS
PPGAEAAPSLRYVPYGASPPSLEGLITFEAPELPEETLMEREHTDTLRHLNVMLMFTECV
LDLTAMRGGNPELCTSAVSLYQIQESVVVDQISQLSKDWGRVEQLVLYMKAAQLLAASLH
LAKAQIKSGKLSPSTAVKQVVKNLNERYKFCITMCKKLTEKLNRFFSDKQRFIDEINSVT
AEKLIYNCAVEMVQSAALDEMFQQTEDIVYRYHKAALLLEGLSRILQDPADIENVHKYKC
SIERRLSALCHS
TATV
Sequence length 1036
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Autophagy - other
Autophagy - animal
mTOR signaling pathway
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anodontia Associate 28844109
Autism Spectrum Disorder Associate 37407249
Breast Neoplasms Associate 32705220
Carcinogenesis Associate 28844109
Colorectal Neoplasms Associate 28844109
Colorectal Neoplasms Inhibit 38326722
Diabetes Mellitus Associate 34933019
Glioblastoma Associate 25482944
Glioma Associate 39348350
Leukemia Myeloid Acute Associate 38203816