KANK2
KN motif and ankyrin repeat domain-containing protein 2
Also known as: ANKRD25, KANK2_HUMAN, KIAA1518, MXRA3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q63ZY3
- Gene
- KANK2
- Ensembl
- ENSG00000197256
- Chromosome
- 19
- Canonical length
- 851 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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 coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
851 residues, UniProt reviewed canonical sequence.
>Q63ZY3|KANK2
1 MAQVLHVPAP FPGTPGPASP PAFPAKDPDP PYSVETPYGY RLDLDFLKYV DDIEKGHTLR
61 RVAVQRRPRL SSLPRGPGSW WTSTESLCSN ASGDSRHSAY SYCGRGFYPQ YGALETRGGF
121 NPRVERTLLD ARRRLEDQAA TPTGLGSLTP SAAGSTASLV GVGLPPPTPR SSGLSTPVPP
181 SAGHLAHVRE QMAGALRKLR QLEEQVKLIP VLQVKLSVLQ EEKRQLTVQL KSQKFLGHPT
241 AGRGRSELCL DLPDPPEDPV ALETRSVGTW VRERDLGMPD GEAALAAKVA VLETQLKKAL
301 QELQAAQARQ ADPQPQAWPP PDSPVRVDTV RVVEGPREVE VVASTAAGAP AQRAQSLEPY
361 GTGLRALAMP GRPESPPVFR SQEVVETMCP VPAAATSNVH MVKKISITER SCDGAAGLPE
421 VPAESSSSPP GSEVASLTQP EKSTGRVPTQ EPTHREPTRQ AASQESEEAG GTGGPPAGVR
481 SIMKRKEEVA DPTAHRRSLQ FVGVNGGYES SSEDSSTAEN ISDNDSTENE APEPRERVPS
541 VAEAPQLRPA GTAAAKTSRQ ECQLSRESQH IPTAEGASGS NTEEEIRMEL SPDLISACLA
601 LEKYLDNPNA LTERELKVAY TTVLQEWLRL ACRSDAHPEL VRRHLVTFRA MSARLLDYVV
661 NIADSNGNTA LHYSVSHANF PVVQQLLDSG VCKVDKQNRA GYSPIMLTAL ATLKTQDDIE
721 TVLQLFRLGN INAKASQAGQ TALMLAVSHG RVDVVKALLA CEADVNVQDD DGSTALMCAC
781 EHGHKEIAGL LLAVPSCDIS LTDRDGSTAL MVALDAGQSE IASMLYSRMN IKCSFAPMSD
841 DESPTSSSAE ELocalizationUniProt · AlphaFold · HPA
Whether an antibody against KANK2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 388 nTPM
Expression across tissuesHPA
Tissue
- colon: 388 nTPM
- blood vessel: 368 nTPM
- endometrium: 346 nTPM
- cervix: 302 nTPM
- urinary bladder: 264 nTPM
- smooth muscle: 259 nTPM
Single-cell type
- smooth muscle cells: 368 nCPM
- peritubular myoid cells: 270 nCPM
- vascular smooth muscle cells: 259 nCPM
- leydig cells: 148 nCPM
- pericytes: 147 nCPM
- endometrial stromal cells: 141 nCPM
Immune cell
- neutrophil: 0.2 nTPM
- basophil: 0.1 nTPM
- classical monocyte: 0.1 nTPM
- intermediate monocyte: 0.1 nTPM
- MAIT T-cell: 0.1 nTPM
- NK-cell: 0.1 nTPM
Brain region
- thalamus: 44 nTPM
- medulla oblongata: 43 nTPM
- hypothalamus: 40 nTPM
- pons: 39 nTPM
- basal ganglia: 38 nTPM
- midbrain: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KANK2.
Disease | AllUniProt
Conditions KANK2 is implicated in, by any mechanism.
- Palmoplantar keratoderma and woolly hair (PPKWH) MIM:616099
- Nephrotic syndrome 16 (NPHS16) MIM:617783
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 562 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Nephrotic syndrome 16
- Wooly hair-palmoplantar keratoderma syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.48
- gnomAD pLI
- 0.04
- gnomAD missense Z
- 0.48
- DepMap mean gene effect
- 0.13
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- kidney epithelium development
- negative regulation of actin filament polymerization
- negative regulation of cell population proliferation
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of intracellular estrogen receptor signaling pathway
- negative regulation of programmed cell death
- negative regulation of transcription by RNA polymerase II
- negative regulation of vitamin D receptor signaling pathway
- podocyte cell migration
- regulation of Rho protein signal transduction
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KANK2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KANK2 as an antibody target. Whether an autoantibody or antibody against KANK2 could matter depends on whether native KANK2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KANK2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KANK2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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