ANKK1 (ankyrin repeat and kinase domain containing 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
255239
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat and kinase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKK1
Synonyms (NCBI Gene) Gene synonyms aliases
PKK2, sgK288
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragme
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1800497 G>A Benign, drug-response Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32707033, 33961781
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608774 21027 ENSG00000170209
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8NFD2
Protein name Ankyrin repeat and protein kinase domain-containing protein 1 (EC 2.7.11.1) (Protein kinase PKK2) (Sugen kinase 288) (SgK288) (X-kinase)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr 25 → 285 Protein tyrosine and serine/threonine kinase Domain
PF12796 Ank_2 333 → 425 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 413 → 491 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 432 → 526 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 498 → 590 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 564 → 656 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 623 → 689 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 641 → 722 Ankyrin repeats (3 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain and weakly expressed in placenta and spinal cord. {ECO:0000269|PubMed:14741327, ECO:0000269|PubMed:15146457}.
Sequence
Sequence length 765
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
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
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Schizophrenia schizophrenia N/A N/A ClinVar
Show/Hide Text Mining Associations (44)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 19065655
Alcoholism Associate 19914044, 22848508
Antisocial Personality Disorder Associate 26664790
Anxiety Associate 31357601, 34151861
Attention Deficit Disorder with Hyperactivity Associate 28630479
Autistic Disorder Associate 28470827
Brain Injuries Associate 25931179
Brain Injuries Traumatic Associate 18698520, 25633559, 27154305, 28323555, 29717626
Breast Neoplasms Associate 25882604
Bulimia Associate 30253082