ANKK1 (ankyrin repeat and kinase domain containing 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 255239
Gene name Ankyrin repeat and kinase domain containing 1
Gene symbol ANKK1
Synonyms (NCBI Gene)
PKK2sgK288
Chromosome 11
Chromosome location 11q23.2
Summary 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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608774 21027 ENSG00000170209
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANKK1-related disorder Benign; Likely benign rs1800497, rs114931186, rs373311747, rs2734849, rs7118900, rs11604671, rs1001386697, rs56005821, rs146480879, rs367629143, rs35488601, rs35657708, rs747682799, rs1431194415, rs181883517
View all (5 more)		 RCV003974790
RCV003907241
RCV003931863
RCV003984654
RCV003984677
RCV003982477
RCV003912121
RCV003912171
RCV003952032
RCV003927170
RCV003929464
RCV003927286
RCV003951386
RCV003951490
RCV003944317
RCV003981302
RCV003970674
RCV003906065
RCV003916177
RCV003936034
Cervical cancer Benign rs139841238 RCV005913184
Clear cell carcinoma of kidney Benign rs139841238 RCV005913185
Familial cancer of breast Benign rs139841238 RCV005913182
Show/Hide Text Mining Associations (44)
Associations from Text MiningDisease 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