Gene Gene information from NCBI Gene database.
Entrez ID 25959
Gene name KN motif and ankyrin repeat domains 2
Gene symbol KANK2
Synonyms (NCBI Gene)
ANKRD25MXRA3NPHS16PPKWHSIP
Chromosome 19
Chromosome location 19p13.2
Summary This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactiv
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs606231303 G>A Pathogenic Coding sequence variant, missense variant
rs1555816634 G>A Pathogenic Coding sequence variant, missense variant
rs1555820663 T>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
321
miRTarBase ID miRNA Experiments Reference
MIRT016547 hsa-miR-193b-3p Microarray 20304954
MIRT020755 hsa-miR-155-5p Proteomics 18668040
MIRT022589 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023699 hsa-miR-1-3p Proteomics 18668040
MIRT029311 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17476305
GO:0005515 Function Protein binding IPI 17476305, 21516116, 22371500, 24722188, 25416956, 25961457, 29183992, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 17476305, 25961457
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614610 29300 ENSG00000197256
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q63ZY3
Protein name KN motif and ankyrin repeat domain-containing protein 2 (Ankyrin repeat domain-containing protein 25) (Matrix-remodeling-associated protein 3) (SRC-1-interacting protein) (SIP) (SRC-interacting protein) (SRC1-interacting protein)
Protein function Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor
PDB 4HBD , 5YBV , 6TMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12075 KN_motif 31 69 KN motif Motif
PF00023 Ank 666 699 Ankyrin repeat Repeat
PF13637 Ank_4 739 792 Repeat
PF12796 Ank_2 764 834 Ankyrin repeats (3 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in cervix, colon, heart, kidney and lung. Expressed in kidney glomerular podocytes and mesangial cells (at protein level). {ECO:0000269|PubMed:17996375, ECO:0000269|PubMed:20720434}.
Sequence
MAQVLHVPAPFPGTPGPASPPAFPAKDPDPPYSVETPYGYRLDLDFLKYVDDIEKGHTLR
RVAVQRRPR
LSSLPRGPGSWWTSTESLCSNASGDSRHSAYSYCGRGFYPQYGALETRGGF
NPRVERTLLDARRRLEDQAATPTGLGSLTPSAAGSTASLVGVGLPPPTPRSSGLSTPVPP
SAGHLAHVREQMAGALRKLRQLEEQVKLIPVLQVKLSVLQEEKRQLTVQLKSQKFLGHPT
AGRGRSELCLDLPDPPEDPVALETRSVGTWVRERDLGMPDGEAALAAKVAVLETQLKKAL
QELQAAQARQADPQPQAWPPPDSPVRVDTVRVVEGPREVEVVASTAAGAPAQRAQSLEPY
GTGLRALAMPGRPESPPVFRSQEVVETMCPVPAAATSNVHMVKKISITERSCDGAAGLPE
VPAESSSSPPGSEVASLTQPEKSTGRVPTQEPTHREPTRQAASQESEEAGGTGGPPAGVR
SIMKRKEEVADPTAHRRSLQFVGVNGGYESSSEDSSTAENISDNDSTENEAPEPRERVPS
VAEAPQLRPAGTAAAKTSRQECQLSRESQHIPTAEGASGSNTEEEIRMELSPDLISACLA
LEKYLDNPNALTERELKVAYTTVLQEWLRLACRSDAHPELVRRHLVTFRAMSARLLDYVV
NIADSNGNTALHYSVSHANFPVVQQLLDSGVCKVDKQNRAGYSPIMLTALATLKTQDDIE
TVLQLFRLGNINAKASQAGQTALMLAVSHGRVDVVKALLACEADVNVQDDDGSTALMCAC
EHGHKEIAGLLL
AVPSCDISLTDRDGSTALMVALDAGQSEIASMLYSRMNIKCS
FAPMSD
DESPTSSSAEE
Sequence length 851
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Nephrotic syndrome 16 Pathogenic rs1555816634 RCV000515625
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wooly hair-palmoplantar keratoderma syndrome Pathogenic rs606231303 RCV000145417
★★★★☆
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 Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRONCHIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME GWAS catalog
★★☆☆☆
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
Adult type dermatomyositis Dermatomyositis BEFREE 21052763, 30398034
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28749453, 28984682
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28749453, 28984682
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20585948, 22037216
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29148855
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26603518
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 22480271, 28196083, 29534068
★☆☆☆☆
Found in Text Mining only
Common ventricle Complete Atrioventricular Canal Defect BEFREE 28770308
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 17400182
★☆☆☆☆
Found in Text Mining only