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Aliases for KANK2 Gene

Aliases for KANK2 Gene

  • KN Motif And Ankyrin Repeat Domains 2 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 25 3 4
  • Matrix-Remodeling-Associated Protein 3 3 4
  • SRC1-Interacting Protein 3 4
  • SRC-Interacting Protein 3 4
  • ANKRD25 3 4
  • MXRA3 3 4
  • SIP 3 4
  • KN Motif And Ankyrin Repeat Domain-Containing Protein 2 3
  • Kidney Ankyrin Repeat-Containing Protein 2 3
  • Matrix-Remodelling Associated 3 2
  • SRC-1-Interacting Protein 4
  • Ankyrin Repeat Domain 25 2
  • KIAA1518 4
  • PPKWH 3

External Ids for KANK2 Gene

Previous HGNC Symbols for KANK2 Gene

  • MXRA3
  • ANKRD25

Previous GeneCards Identifiers for KANK2 Gene

  • GC19M011274
  • GC19M010851

Summaries for KANK2 Gene

Entrez Gene Summary for KANK2 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]

GeneCards Summary for KANK2 Gene

KANK2 (KN Motif And Ankyrin Repeat Domains 2) is a Protein Coding gene. Diseases associated with KANK2 include Palmoplantar Keratoderma And Woolly Hair and Pseudoainhum. An important paralog of this gene is KANK1.

UniProtKB/Swiss-Prot for KANK2 Gene

  • Involved in transcription regulation by sequestering nuclear receptor coactivators, such as NCOA1, NCOA2 and NCOA3, in the cytoplasm; the function is deregulated by phosphorylation. Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). May be involved in the control of cytoskeleton formation by regulating actin polymerization. Involved in regulation of caspase-independent apoptosis; proposed to sequester AIFM1 in mitochondria and apoptotic stimuli lead to its proteasomal degradation allowing the release of AIFM1 to the nucleus (PubMed:22371500). May be involved in promotion of cell proliferation (By similarity).

Gene Wiki entry for KANK2 Gene

Additional gene information for KANK2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KANK2 Gene

Genomics for KANK2 Gene

Regulatory Elements for KANK2 Gene

Enhancers for KANK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H011188 1.3 Ensembl ENCODE dbSUPER 19.9 +7.2 7246 4 PKNOX1 NFIB KLF17 RCOR1 CREM ZNF280D NFYA CEBPB NFYC USF2 KANK2 DOCK6 GC19P011173
GH19H011192 1.5 Ensembl ENCODE dbSUPER 15.9 +1.5 1548 7 HDGF ATF1 ARNT ZFP64 ARID4B SIN3A DMAP1 GLI4 ZNF121 GLIS2 KANK2 LOC105372273 ENSG00000267174 GC19P011173
GH19H010717 1.7 FANTOM5 ENCODE dbSUPER 13.9 +478.6 478636 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 KRI1 EIF3G ILF3 FBXL12 RAVER1 TIMM29 PPAN QTRT1 ZNF627 CNN1
GH19H011047 0.9 Ensembl ENCODE 25.1 +148.2 148214 3 SRF CBFB NR2F1 DPF2 SP1 POLR2A EED IKZF1 ZNF207 ETV6 KANK2 CNN1 SPC24 SMARCA4 ILF3-AS1 PIR38577 ENSG00000278643
GH19H010400 1.5 FANTOM5 ENCODE 13.9 +793.6 793574 6 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 ICAM1 KANK2 MRPL4 ICAM5 ICAM4 RAVER1 PDE4A TYK2 C19orf38 P2RY11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KANK2 on UCSC Golden Path with GeneCards custom track

Promoters for KANK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107149 691 2201 ZFP64 ARID4B SIN3A DMAP1 GLI4 GLIS2 ZNF143 SP3 REST SMARCB1

Genomic Location for KANK2 Gene

Chromosome:
19
Start:
11,164,267 bp from pter
End:
11,197,791 bp from pter
Size:
33,525 bases
Orientation:
Minus strand

Genomic View for KANK2 Gene

Genes around KANK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KANK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KANK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KANK2 Gene

Proteins for KANK2 Gene

  • Protein details for KANK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q63ZY3-KANK2_HUMAN
    Recommended name:
    KN motif and ankyrin repeat domain-containing protein 2
    Protein Accession:
    Q63ZY3
    Secondary Accessions:
    • B0I1P4
    • Q3KQZ3
    • Q6GUF5
    • Q9H8S4
    • Q9NUP0
    • Q9P210

    Protein attributes for KANK2 Gene

    Size:
    851 amino acids
    Molecular mass:
    91174 Da
    Quaternary structure:
    • Interacts (phosphorylated) with NCOA1; NCOA2 AND NCOA3. Interacts with AIFM1.
    SequenceCaution:
    • Sequence=BAA92081.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA96042.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14531.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KANK2 Gene

    Alternative splice isoforms for KANK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KANK2 Gene

Post-translational modifications for KANK2 Gene

No data available for DME Specific Peptides for KANK2 Gene

Domains & Families for KANK2 Gene

Gene Families for KANK2 Gene

Protein Domains for KANK2 Gene

Suggested Antigen Peptide Sequences for KANK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KANK2: view

No data available for UniProtKB/Swiss-Prot for KANK2 Gene

Function for KANK2 Gene

Molecular function for KANK2 Gene

UniProtKB/Swiss-Prot Function:
Involved in transcription regulation by sequestering nuclear receptor coactivators, such as NCOA1, NCOA2 and NCOA3, in the cytoplasm; the function is deregulated by phosphorylation. Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). May be involved in the control of cytoskeleton formation by regulating actin polymerization. Involved in regulation of caspase-independent apoptosis; proposed to sequester AIFM1 in mitochondria and apoptotic stimuli lead to its proteasomal degradation allowing the release of AIFM1 to the nucleus (PubMed:22371500). May be involved in promotion of cell proliferation (By similarity).

Phenotypes From GWAS Catalog for KANK2 Gene

Gene Ontology (GO) - Molecular Function for KANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17476305
genes like me logo Genes that share ontologies with KANK2: view
genes like me logo Genes that share phenotypes with KANK2: view

Human Phenotype Ontology for KANK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KANK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KANK2 Gene

Localization for KANK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANK2 Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KANK2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for KANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 17476305
GO:0005739 mitochondrion IEA,IDA 22371500
genes like me logo Genes that share ontologies with KANK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KANK2 Gene

Pathways & Interactions for KANK2 Gene

SuperPathways for KANK2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 17476305
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0008285 negative regulation of cell proliferation IDA 17476305
genes like me logo Genes that share ontologies with KANK2: view

No data available for Pathways by source and SIGNOR curated interactions for KANK2 Gene

Drugs & Compounds for KANK2 Gene

No Compound Related Data Available

Transcripts for KANK2 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KANK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KANK2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - - -
SP2: -
SP3: - - - - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - -
SP7: - -
SP8: -
SP9:
SP10:

ExUns: 15 ^ 16 ^ 17a · 17b · 17c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for KANK2 Gene

GeneLoc Exon Structure for
KANK2
ECgene alternative splicing isoforms for
KANK2

Expression for KANK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KANK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KANK2 Gene

This gene is overexpressed in Uterus (10.8), Urinary Bladder (9.2), and Colon muscle (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KANK2 Gene



Protein tissue co-expression partners for KANK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KANK2 Gene:

KANK2

SOURCE GeneReport for Unigene cluster for KANK2 Gene:

Hs.284208

mRNA Expression by UniProt/SwissProt for KANK2 Gene:

Q63ZY3-KANK2_HUMAN
Tissue specificity: Strongly expressed in cervix, colon, heart, kidney and lung. Expressed in kidney glomerular podocytes and mesangial cells (at protein level).

Evidence on tissue expression from TISSUES for KANK2 Gene

  • Lung(4.4)
  • Liver(4.3)
  • Spleen(4.3)
  • Nervous system(3)
  • Heart(2.1)
  • Muscle(2.1)
  • Gall bladder(2)
  • Intestine(2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KANK2 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • scalp
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with KANK2: view

Primer Products

No data available for mRNA differential expression in normal tissues for KANK2 Gene

Orthologs for KANK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KANK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KANK2 33 34
  • 96.54 (n)
cow
(Bos Taurus)
Mammalia KANK2 33 34
  • 86.88 (n)
dog
(Canis familiaris)
Mammalia KANK2 33 34
  • 86.72 (n)
mouse
(Mus musculus)
Mammalia Kank2 33 16 34
  • 80.89 (n)
rat
(Rattus norvegicus)
Mammalia Kank2 33
  • 80.51 (n)
oppossum
(Monodelphis domestica)
Mammalia KANK2 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KANK2 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kank2 33
  • 59.28 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC571549 33
  • 62.82 (n)
kank2 34
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10249 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-19 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
ManyToMany
CSA.3164 34
  • 24 (a)
ManyToMany
Species where no ortholog for KANK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KANK2 Gene

ENSEMBL:
Gene Tree for KANK2 (if available)
TreeFam:
Gene Tree for KANK2 (if available)

Paralogs for KANK2 Gene

Paralogs for KANK2 Gene

(7) SIMAP similar genes for KANK2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with KANK2: view

Variants for KANK2 Gene

Sequence variations from dbSNP and Humsavar for KANK2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs606231303 Pathogenic, Palmoplantar keratoderma and woolly hair (PPKWH) [MIM:616099] 11,174,532(-) CACAG(C/T)CCTGC reference, missense
rs1000004574 -- 11,174,974(+) TTTTT(G/T)TGAGA intron-variant
rs1000008457 -- 11,182,105(+) GAGAT(A/G)GGGTT intron-variant
rs1000028013 -- 11,168,002(+) ACGTC(C/T)TTGTT intron-variant
rs1000126154 -- 11,187,101(+) AAATA(C/G)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KANK2 Gene

Variant ID Type Subtype PubMed ID
dgv3427n100 CNV gain 25217958
esv2658280 CNV deletion 23128226
esv2718172 CNV deletion 23290073
esv29212 CNV loss 19812545
esv3097124 CNV deletion 24192839
esv3556028 CNV deletion 23714750
esv3643665 CNV loss 21293372
esv3643666 CNV loss 21293372
nsv1065030 CNV gain 25217958
nsv522449 CNV loss 19592680
nsv525977 CNV loss 19592680
nsv578613 CNV gain 21841781

Variation tolerance for KANK2 Gene

Residual Variation Intolerance Score: 86.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KANK2 Gene

Human Gene Mutation Database (HGMD)
KANK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KANK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANK2 Gene

Disorders for KANK2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KANK2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma and woolly hair
  • ppkwh
pseudoainhum
striate palmoplantar keratoderma
  • keratosis palmoplantaris striata
- elite association - COSMIC cancer census association via MalaCards
Search KANK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KANK2_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for KANK2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KANK2
genes like me logo Genes that share disorders with KANK2: view

No data available for Genatlas for KANK2 Gene

Publications for KANK2 Gene

  1. Kank proteins: a new family of ankyrin-repeat domain-containing proteins. (PMID: 17996375) Zhu Y … Kiyama R (Biochimica et biophysica acta 2008) 2 3 4 60
  2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  3. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. (PMID: 24671081) Ramot Y … Zlotogorski A (Journal of medical genetics 2014) 3 4 60
  4. Steroid receptor coactivator-interacting protein (SIP) inhibits caspase-independent apoptosis by preventing apoptosis-inducing factor (AIF) from being released from mitochondria. (PMID: 22371500) Wang D … Shang Y (The Journal of biological chemistry 2012) 3 4 60
  5. Kank proteins: structure, functions and diseases. (PMID: 19554261) Kakinuma N … Kiyama R (Cellular and molecular life sciences : CMLS 2009) 2 3 60

Products for KANK2 Gene

Sources for KANK2 Gene

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