ANKK1 (ankyrin repeat and kinase domain containing 1)

Gene

• Entrez ID: 255239
• Gene name: Ankyrin repeat and kinase domain containing 1
• Gene symbol: ANKK1
• Synonyms (NCBI Gene): PKK2, sgK288
• 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 ID	Visualize variation	Clinical significance	Consequence
rs1800497	G>A	Benign, drug-response	Missense variant, coding sequence variant

Gene ontology (GO)

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
GO:0005634	Component	Nucleus	IDA	27166167
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0010564	Process	Regulation of cell cycle process	IBA
GO:0010564	Process	Regulation of cell cycle process	IDA	27166167
GO:0010564	Process	Regulation of cell cycle process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 608774
• HGNC: 21027
• e!Ensembl: ENSG00000170209

Protein

• 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:

  MAADPTELRLGSLPVFTRDDFEGDWRLVASGGFSQVFQARHRRWRTEYAIKCAPCLPPDA
  ASSDVNYLIEEAAKMKKIKFQHIVSIYGVCKQPLGIVMEFMANGSLEKVLSTHSLCWKLR
  FRIIHETSLAMNFLHSIKPPLLHLDLKPGNILLDSNMHVKISDFGLSKWMEQSTRMQYIE
  RSALRGMLSYIPPEMFLESNKAPGPKYDVYSFAIVIWELLTQKKPYSGFNMMMIIIRVAA
  GMRPSLQPVSDQWPSEAQQMVDLMKRCWDQDPKKRPCFLDITIETDILLSLLQSRVAVPE
  SKALARKVSCKLSLRQPGEVNEDISQELMDSDSGNYLKRALQLSDRKNLVPRDEELCIYE
  NKVTPLHFLVAQGSVEQVRLLLAHEVDVDCQTASGYTPLLIAAQDQQPDLCALLLAHGAD
  ANRVDEDGWAPLHFAAQNGDDGTARLLLDHGACVDAQEREGWTPLHLAAQNNFENVARLL
  VSRQADPNLHEAEGKTPLHVAAYFGHVSLVKLLTSQGAELDAQQRNLRTPLHLAVERGKV
  RAIQHLLKSGAVPDALDQSGYGPLHTAAARGKYLICKMLLRYGASLELPTHQGWTPLHLA
  AYKGHLEIIHLLAESHANMGALGAVNWTPLHLAARHGEEAVVSALLQCGADPNAAEQSGW
  TPLHLAVQRSTFLSVINLLEHHANVHARNKVGWTPAHLAALKGNTAILKVLVEAGAQLDV
  QDGVSCTPLQLALRSRKQGIMSFLEGKEPSVATLGGSKPGAEMEI

• Sequence length: 765

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKK1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD COGNITIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Taq1A POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Language Disorders	Language Disorders	CTD_human_DG	23691092		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	23558112		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	17850642, 19900188, 21070510		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	26664790	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	21097659, 27490263		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	31357601, 34151861	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	21097659, 27490263		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28630479	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	25641135, 28624582, 28630479		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	28470827	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20577142, 22514151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20577142, 22326841, 22514151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	20577142		★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	BEFREE	20577142		★☆☆☆☆ Found in Text Mining only
BORNHOLM EYE DISEASE	Bornholm Eye Disease	BEFREE	22579533		★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	25931179	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	18698520, 25633559, 27154305, 28323555, 29717626	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25882604		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25882604	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	30121507		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	Pubtator	30253082	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30123056	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	36043564	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25882604, 35499926, 40494419	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	30973927	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29564530		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	21540761, 23683269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23683269, 27154305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	27154305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	22056417, 31766642	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24724616		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	25896831, 36805080	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	25447970		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	LHGDN	17669630, 17767146		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	23171335		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	26110876		★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperproinsulinemia	Pubtator	32383805	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25882604		★☆☆☆☆ Found in Text Mining only
Infiltrating duct carcinoma of female breast	Infiltrating Duct Carcinoma Of Female Breast	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	23691092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language Disorders	CTD_human_DG	23691092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	19900188	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	23683269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	25882604		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27600277		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	25219588		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23947671		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23947671	Stimulate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	21540761, 23683269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23683269, 27154305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	19526298, 21510979		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28445147, 29791666	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	BEFREE	22875483		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	33972609	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22875483		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	21354244		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22056417, 22848508, 28445147, 30253082	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22848508, 26354923, 27600277, 30121507		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	34151861	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21663922, 25896831, 26627941, 29856137, 33972609, 40494419	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23171335, 30353564		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28257413		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29564530		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17417059, 18926547, 20138949, 24704945, 25073965, 25504812, 26114114, 28085950, 29499474		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	LHGDN	17669630		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	PSYGENET_DG	20138949, 24704945		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	27241797, 29791666, 32383805	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	34151861	Associate	★☆☆☆☆ Found in Text Mining only
Substance Withdrawal Syndrome	Substance abuse	Pubtator	23238469	Associate	★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	31144779		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	23683269		★☆☆☆☆ Found in Text Mining only