KANK2
entrez
25959
canonical
uniprot
Q63ZY3
canonical
ensembl
ENSG00000197256
resolver
ensp
ENSP00000465650
resolver
ensp
ENSP00000468002
resolver
ensp
ENSP00000554197
resolver
ensp
ENSP00000554199
resolver
ensp
ENSP00000554200
resolver
ensp
ENSP00000554201
resolver
ensp
ENSP00000554202
resolver
ensp
ENSP00000554204
resolver
ensp
ENSP00000554205
resolver
ensp
ENSP00000554208
resolver
ensp
ENSP00000554209
resolver
ensp
ENSP00000554210
resolver
ensp
ENSP00000554211
resolver
ensp
ENSP00000554212
resolver
ensp
ENSP00000594604
resolver
ensp
ENSP00000594605
resolver
ensp
ENSP00000630914
resolver
ensp
ENSP00000630915
resolver
ensp
ENSP00000630916
resolver
ensp
ENSP00000630917
resolver
ensp
ENSP00000630919
resolver
genesymbol
KANK2
resolver
genesymbol_syn
ANKRD25
resolver
genesymbol_syn
KIAA1518
resolver
genesymbol_syn
MXRA3
resolver
genesymbol_syn
SIP
resolver
hgnc
HGNC:29300
resolver
uniprot
B0I1P4
resolver
uniprot
Q3KQZ3
resolver
uniprot
Q6GUF5
resolver
uniprot
Q9H8S4
resolver
uniprot
Q9NUP0
resolver
uniprot
Q9P210
resolver
uniprot_entry
KANK2_HUMAN
resolver
uniprot_sec
B0I1P4
resolver
uniprot_sec
Q3KQZ3
resolver
uniprot_sec
Q6GUF5
resolver
uniprot_sec
Q9H8S4
resolver
uniprot_sec
Q9NUP0
resolver
uniprot_sec
Q9P210
resolver
amino_acid_sequence
MAQVLHVPAPFPGTPGPASPPAFPAKDPDPPYSVETPYGYRLDLDFLKYVDDIEKGHTLRRVAVQRRPRLSSLPRGPGSWWTSTESLCSNASGDSRHSAYSYCGRGFYPQYGALETRGGFNPRVERTLLDARRRLEDQAATPTGLGSLTPSAAGSTASLVGVGLPPPTPRSSGLSTPVPPSAGHLAHVREQMAGALRKLRQLEEQVKLIPVLQVKLSVLQEEKRQLTVQLKSQKFLGHPTAGRGRSELCLDLPDPPEDPVALETRSVGTWVRERDLGMPDGEAALAAKVAVLETQLKKALQELQAAQARQADPQPQAWPPPDSPVRVDTVRVVEGPREVEVVASTAAGAPAQRAQSLEPYGTGLRALAMPGRPESPPVFRSQEVVETMCPVPAAATSNVHMVKKISITERSCDGAAGLPEVPAESSSSPPGSEVASLTQPEKSTGRVPTQEPTHREPTRQAASQESEEAGGTGGPPAGVRSIMKRKEEVADPTAHRRSLQFVGVNGGYESSSEDSSTAENISDNDSTENEAPEPRERVPSVAEAPQLRPAGTAAAKTSRQECQLSRESQHIPTAEGASGSNTEEEIRMELSPDLISACLALEKYLDNPNALTERELKVAYTTVLQEWLRLACRSDAHPELVRRHLVTFRAMSARLLDYVVNIADSNGNTALHYSVSHANFPVVQQLLDSGVCKVDKQNRAGYSPIMLTALATLKTQDDIETVLQLFRLGNINAKASQAGQTALMLAVSHGRVDVVKALLACEADVNVQDDDGSTALMCACEHGHKEIAGLLLAVPSCDISLTDRDGSTALMVALDAGQSEIASMLYSRMNIKCSFAPMSDDESPTSSSAEE
uniprot
proteins
disease_involvement
DISEASE: Palmoplantar keratoderma and woolly hair (PPKWH) [MIM:616099]: A disorder characterized by abnormal thickening of the skin on the palms and soles, in association with woolly scalp hair. Affected individuals manifest a variable degree of striate palmoplantar keratoderma, generally more severe on the soles. Leukonychia is more pronounced on the fingernails than toenails. Scalp hair, body hair, eyebrows, and eyelashes are sparse. The fifth toes show variable degrees of pseudoainhum, ranging from external rotation to a deep sulcus at the digitoplantar fold, accompanied by a bulbous appearance of the distal toe. {ECO:0000269|PubMed:24671081}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Nephrotic syndrome 16 (NPHS16) [MIM:617783]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS16 inheritance is autosomal recessive. {ECO:0000269|PubMed:25961457}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 AIFM1 in mitochondria (PubMed:22371500). Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis (PubMed:22371500). Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway (PubMed:17996375, PubMed:25961457). May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney (PubMed:25961457). Through the Rho signaling pathway may also regulate cell proliferation (By similarity). {ECO:0000250|UniProtKB:Q8BX02, ECO:0000269|PubMed:17476305, ECO:0000269|PubMed:17996375, ECO:0000269|PubMed:22371500, ECO:0000269|PubMed:24671081, ECO:0000269|PubMed:25961457}.
uniprot
proteins
mass_dalton
91174
uniprot
proteins
mutagenesis
MUTAGEN 510..512; /note="SSS->AAA: Impairs phosphorylation; when associated with A-515."; /evidence="ECO:0000269|PubMed:17476305"; MUTAGEN 515; /note="S->A: Impairs phosphorylation; when associated with 510-A--A-512."; /evidence="ECO:0000269|PubMed:17476305"; MUTAGEN 702; /note="Y->A: 4-fold decrease in binding to KIF21A."; /evidence="ECO:0000269|PubMed:29183992"; MUTAGEN 702; /note="Y->L: 33-fold decrease in binding to KIF21A."; /evidence="ECO:0000269|PubMed:29183992"; MUTAGEN 803; /note="D->A: 26-fold decrease in binding to KIF21A."; /evidence="ECO:0000269|PubMed:29183992"; MUTAGEN 805; /note="D->A: 20-fold decrease in binding to KIF21A."; /evidence="ECO:0000269|PubMed:29183992
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by casein kinase II upon estrogen stimulation (PubMed:17476305). Phosphorylation induces the release by KANK2 of NCOA1 and its translocation to the nucleus where NCOA1 can activate gene transcription (PubMed:17476305). {ECO:0000269|PubMed:17476305}.
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17476305
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17996375
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20720434
uniprot
proteins
pubmed
22371500
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24671081
uniprot
proteins
pubmed
25961457
uniprot
proteins
pubmed
29183992
uniprot
proteins
sequence_length
851
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17476305, ECO:0000269|PubMed:17996375, ECO:0000269|PubMed:22371500, ECO:0000269|PubMed:25961457}. Mitochondrion {ECO:0000269|PubMed:22371500}.
uniprot
proteins