Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25959
Gene name Gene Name - the full gene name approved by the HGNC.
KN motif and ankyrin repeat domains 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KANK2
Synonyms (NCBI Gene) Gene synonyms aliases
ANKRD25, MXRA3, NPHS16, PPKWH, SIP
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614610 29300 ENSG00000197256
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephrotic Syndrome Nephrotic syndrome 16 rs1555816634 N/A
Palmoplantar Keratoderma And Woolly Hair Wooly hair-palmoplantar keratoderma syndrome rs606231303 N/A
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
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Type 2 Associate 35271662
Melanoma Associate 37460977
Sarcopenia Associate 35271662