KANK1 Gene (Protein Coding)

KN Motif And Ankyrin Repeat Domains 1

GC09P000474
GIFtS:
42
The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system dev... See more...

Aliases for KANK1 Gene

Aliases for KANK1 Gene

  • KN Motif And Ankyrin Repeat Domains 1 2 3 5
  • KANK 2 3 4
  • KN Motif And Ankyrin Repeat Domain-Containing Protein 1 3 4
  • Ankyrin Repeat Domain-Containing Protein 15 3 4
  • Kidney Ankyrin Repeat-Containing Protein 3 4
  • KIAA0172 2 4
  • ANKRD15 3 4
  • Ankyrin Repeat Domain 15 2
  • CPSQ2 3
  • KANK1 5

External Ids for KANK1 Gene

Previous HGNC Symbols for KANK1 Gene

  • ANKRD15

Previous GeneCards Identifiers for KANK1 Gene

  • GC09P000461

Summaries for KANK1 Gene

Entrez Gene Summary for KANK1 Gene

  • The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

GeneCards Summary for KANK1 Gene

KANK1 (KN Motif And Ankyrin Repeat Domains 1) is a Protein Coding gene. Diseases associated with KANK1 include Cerebral Palsy, Spastic Quadriplegic, 2 and Inherited Congenital Spastic Tetraplegia. Gene Ontology (GO) annotations related to this gene include beta-catenin binding. An important paralog of this gene is KANK2.

UniProtKB/Swiss-Prot Summary for KANK1 Gene

  • Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457).

Gene Wiki entry for KANK1 Gene

Additional gene information for KANK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KANK1 Gene

Genomics for KANK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KANK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KANK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KANK1

Top Transcription factor binding sites by QIAGEN in the KANK1 gene promoter:
  • AhR
  • AREB6
  • ATF-2
  • COMP1
  • E2F
  • FOXO1
  • FOXO1a
  • GATA-2
  • Lmo2
  • Pax-5

Genomic Locations for KANK1 Gene

Latest Assembly
chr9:470,291-746,106
(GRCh38/hg38)
Size:
275,816 bases
Orientation:
Plus strand

Previous Assembly
chr9:470,295-746,103
(GRCh37/hg19 by Entrez Gene)
Size:
275,809 bases
Orientation:
Plus strand

chr9:470,291-746,105
(GRCh37/hg19 by Ensembl)
Size:
275,815 bases
Orientation:
Plus strand

Genomic View for KANK1 Gene

Genes around KANK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KANK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KANK1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KANK1 Gene

Proteins for KANK1 Gene

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  • Protein details for KANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14678-KANK1_HUMAN
    Recommended name:
    KN motif and ankyrin repeat domain-containing protein 1
    Protein Accession:
    Q14678
    Secondary Accessions:
    • A2A2W8
    • D3DRH3
    • Q5W0W0
    • Q8IY65
    • Q8WX74

    Protein attributes for KANK1 Gene

    Size:
    1352 amino acids
    Molecular mass:
    147289 Da
    Quaternary structure:
    • Interacts with YWHAQ; the interaction requires KANK1 phosphorylation at Ser-325 and is enhanced by growth factor stimulation. Interacts with YWHAB, YWHAG, YWHAE, YWHAH, YWHAZ and SFN; the interaction requires KANK1 phosphorylation at Ser-325. Interacts with ARFGEF1; however, colocalization cannot be experimentally confirmed. Interacts with BAIAP2. Interacts (via ANK repeats 1-5) with KIF21A (via coiled coil region); KIF21A enhances translocation of KANK1 to the plasma membrane. Interacts with CTNNB1.
    SequenceCaution:
    • Sequence=BAA11489.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KANK1 Gene

    Alternative splice isoforms for KANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KANK1 Gene

Protein Expression for KANK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KANK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KANK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for KANK1

No data available for DME Specific Peptides for KANK1 Gene

Domains & Families for KANK1 Gene

Gene Families for KANK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KANK1 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for KANK1 Gene

GenScript: Design optimal peptide antigens:
  • Kidney ankyrin repeat-containing protein (KANK1_HUMAN)
  • KN motif and ankyrin repeat domains 1 (Q6PIB3_HUMAN)
  • KANK1 protein (Q8WUM7_HUMAN)
genes like me logo Genes that share domains with KANK1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KANK1 Gene

Function for KANK1 Gene

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  6. Cell Lines for research

Molecular function for KANK1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457).

Phenotypes From GWAS Catalog for KANK1 Gene

Gene Ontology (GO) - Molecular Function for KANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16968744
GO:0008013 beta-catenin binding IDA 16968744
genes like me logo Genes that share ontologies with KANK1: view
genes like me logo Genes that share phenotypes with KANK1: view

Human Phenotype Ontology for KANK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANK1

Clone products for research

  • Addgene plasmids for KANK1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KANK1 Gene

Localization for KANK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANK1 Gene

Cell projection, ruffle membrane. Cytoplasm. Nucleus. Note=Colocalizes with KIF21A in membrane ruffles (PubMed:19559006). Shuttles between the cytoplasm and nucleus (PubMed:16968744). {ECO:0000269 PubMed:16968744, ECO:0000269 PubMed:19559006}.
[Isoform 1]: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus. {ECO:0000269 PubMed:16968744}.
[Isoform 2]: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus. {ECO:0000269 PubMed:16968744}.

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 KANK1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 4
cytosol 2
extracellular 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA,IDA 12133830
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KANK1: view

Pathways & Interactions for KANK1 Gene

PathCards logo

SuperPathways for KANK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation IMP 12133830
GO:0010977 negative regulation of neuron projection development IDA 19171758
GO:0030036 actin cytoskeleton organization IMP 12133830
GO:0030177 positive regulation of Wnt signaling pathway IDA 16968744
GO:0030336 negative regulation of cell migration IMP 18458160
genes like me logo Genes that share ontologies with KANK1: view

No data available for Pathways by source and SIGNOR curated interactions for KANK1 Gene

Drugs & Compounds for KANK1 Gene

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No Compound Related Data Available

Transcripts for KANK1 Gene

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mRNA/cDNA for KANK1 Gene

18 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANK1

Clone products for research

  • Addgene plasmids for KANK1

Alternative Splicing Database (ASD) splice patterns (SP) for KANK1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a ·
SP1:
SP2:
SP3:
SP4: - - - - - - - - - - - - - - - - - - - - -
SP5: - - - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - -
SP15: -
SP16: -
SP17:
SP18:
SP19:
SP20: -
SP21:

ExUns: 16b ^ 17a · 17b ^ 18a · 18b · 18c · 18d · 18e · 18f · 18g · 18h · 18i · 18j ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6: -
SP7: -
SP8: -
SP9:
SP10: -
SP11: -
SP12: -
SP13: -
SP14: -
SP15: -
SP16: -
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for KANK1 Gene

GeneLoc Exon Structure for
KANK1

Expression for KANK1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KANK1 Gene

mRNA expression in normal human tissues for KANK1 Gene
mRNA expression by GTEx for KANK1 GenemRNA expression by BioGPS for KANK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KANK1 Gene

This gene is overexpressed in Placenta (15.2), Heart (14.1), and Pancreas (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KANK1 Gene



Protein tissue co-expression partners for KANK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KANK1

SOURCE GeneReport for Unigene cluster for KANK1 Gene:

Hs.306764

mRNA Expression by UniProt/SwissProt for KANK1 Gene:

Q14678-KANK1_HUMAN
Tissue specificity: Widely expressed. Isoform 1 is predominantly expressed in heart and kidney. Isoform 2 probably is widely expressed at basic levels.

Evidence on tissue expression from TISSUES for KANK1 Gene

  • Liver(4.4)
  • Nervous system(4.2)
  • Bone marrow(4.1)
  • Kidney(2.5)
  • Heart(2.4)
  • Skin(2.3)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KANK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with KANK1: view

No data available for mRNA differential expression in normal tissues for KANK1 Gene

Orthologs for KANK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KANK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ANKRD15 30
  • 99.1 (n)
-- 31
  • 98 (a)
 OneToMany
-- 31
  • 94 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia KANK1 30 31
  • 88.49 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KANK1 30 31
  • 85.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kank1 30
  • 84.56 (n)
Mouse
(Mus musculus)
 Mammalia Kank1 30 17 31
  • 84.55 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KANK1 31
  • 78 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia KANK1 31
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KANK1 30 31
  • 70.61 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KANK1 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kank1 30
  • 64.28 (n)
Zebrafish
(Danio rerio)
 Actinopterygii kank1 30 31
  • 61.81 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10249 31
  • 20 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea vab-19 31
  • 22 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3164 31
  • 32 (a)
 ManyToMany
-- 31
  • 31 (a)
 ManyToMany
Species where no ortholog for KANK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 KANK1 Gene

ENSEMBL:
Gene Tree for KANK1 (if available)
TreeFam:
Gene Tree for KANK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KANK1: view image

Paralogs for KANK1 Gene

Paralogs for KANK1 Gene

(9) SIMAP similar genes for KANK1 Gene using alignment to 6 proteins:

  • KANK1_HUMAN
  • Q5W0W1_HUMAN
  • Q5W0W2_HUMAN
  • Q5W0W3_HUMAN
  • Q6PIB3_HUMAN
  • Q8WUM7_HUMAN

Pseudogenes.org Pseudogenes for KANK1 Gene

genes like me logo Genes that share paralogs with KANK1: view

Variants for KANK1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KANK1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
770951 Likely Benign: not provided 742,342(+) A/.
NM_015158.5(KANK1):c.3834= (p.Gly1278=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION
931793 Benign: Cerebral palsy, spastic quadriplegic, 2 740,769(+) CTTTTT/C
NM_015158.5(KANK1):c.3554-9_3554-5del 		INTRON
932601 Likely Benign: not provided 713,133(+) G/A
NM_015158.5(KANK1):c.2367G>A (p.Gly789=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
978413 Uncertain Significance: Rare genetic intellectual disability 711,277(+) A/G
NM_015158.5(KANK1):c.511A>G (p.Thr171Ala) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1057520089 Uncertain Significance: not provided 713,245(+) A/G
NM_015158.4(KANK1):c.2479A>G (p.Ile827Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KANK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KANK1 Gene

Variant ID Type Subtype PubMed ID
dgv12450n54 CNV gain 21841781
dgv12451n54 CNV gain 21841781
dgv12454n54 CNV loss 21841781
dgv12455n54 CNV loss 21841781
dgv12456n54 CNV loss 21841781
dgv12457n54 CNV loss 21841781
dgv12458n54 CNV loss 21841781
dgv12459n54 CNV loss 21841781
dgv12460n54 CNV loss 21841781
dgv12461n54 CNV loss 21841781
dgv1247e201 CNV deletion 23290073
dgv1248e201 CNV deletion 23290073
dgv1249e201 CNV deletion 23290073
dgv1250e201 CNV deletion 23290073
dgv1251e201 CNV deletion 23290073
dgv1316e199 CNV deletion 23128226
dgv1317e199 CNV deletion 23128226
dgv1431e214 CNV gain 21293372
dgv1432e214 CNV loss 21293372
dgv2120e212 CNV gain 25503493
dgv2121e212 CNV loss 25503493
dgv254e55 CNV gain 17911159
dgv255e55 CNV loss 17911159
dgv34n14 CNV loss 18776910
dgv7346n100 CNV gain 25217958
dgv7351n100 CNV gain 25217958
dgv7359n100 CNV gain 25217958
dgv7360n100 CNV gain 25217958
dgv7361n100 CNV loss 25217958
dgv7362n100 CNV loss 25217958
dgv7363n100 CNV gain 25217958
dgv7364n100 CNV loss 25217958
dgv7365n100 CNV loss 25217958
dgv7366n100 CNV loss 25217958
dgv7367n100 CNV loss 25217958
dgv7368n100 CNV gain 25217958
dgv7369n100 CNV loss 25217958
dgv910n27 CNV loss 19166990
dgv911n27 CNV loss 19166990
esv1003494 CNV insertion 20482838
esv1112743 CNV deletion 17803354
esv1583205 CNV deletion 17803354
esv2036921 CNV deletion 18987734
esv2169213 CNV deletion 18987734
esv2294479 CNV deletion 18987734
esv2421414 CNV deletion 20811451
esv2421734 CNV deletion 20811451
esv2446874 CNV deletion 19546169
esv2453106 CNV deletion 19546169
esv24675 CNV loss 19812545
esv25066 CNV loss 19812545
esv2596199 CNV deletion 19546169
esv2598675 CNV deletion 19546169
esv2657341 CNV deletion 23128226
esv2662951 CNV deletion 23128226
esv2664219 CNV deletion 23128226
esv2667217 CNV deletion 23128226
esv26677 CNV loss 19812545
esv2669026 CNV deletion 23128226
esv26724 CNV loss 19812545
esv2673442 CNV deletion 23128226
esv2677368 CNV deletion 23128226
esv2677395 CNV deletion 23128226
esv2678316 CNV deletion 23128226
esv27274 CNV loss 19812545
esv2738099 CNV deletion 23290073
esv2738100 CNV deletion 23290073
esv2738101 CNV deletion 23290073
esv2738107 CNV deletion 23290073
esv2738114 CNV deletion 23290073
esv2738121 CNV deletion 23290073
esv2738124 CNV deletion 23290073
esv2738125 CNV deletion 23290073
esv2738126 CNV deletion 23290073
esv2752307 CNV gain 17911159
esv2759655 CNV loss 17122850
esv2761248 CNV loss 21179565
esv2761258 CNV loss 21179565
esv2761476 CNV loss 21179565
esv2764147 CNV loss 21179565
esv2764172 CNV gain+loss 21179565
esv29163 CNV loss 19812545
esv3269163 CNV deletion 24192839
esv33737 CNV loss 17666407
esv34433 CNV loss 17911159
esv3544416 CNV deletion 23714750
esv3544417 CNV deletion 23714750
esv3573044 CNV loss 25503493
esv3573045 CNV loss 25503493
esv3573047 CNV loss 25503493
esv3573049 CNV loss 25503493
esv3573050 CNV loss 25503493
esv3573051 CNV loss 25503493
esv3576615 CNV gain 25503493
esv3619188 CNV gain 21293372
esv3619190 CNV loss 21293372
esv3619191 CNV loss 21293372
esv3619192 CNV gain 21293372
esv3619193 CNV gain 21293372
esv3619194 CNV gain 21293372
esv3619195 CNV gain 21293372
esv3619196 CNV loss 21293372
esv3619197 CNV loss 21293372
esv3619198 CNV gain 21293372
esv3619199 CNV loss 21293372
esv3619200 CNV gain 21293372
esv3619201 CNV loss 21293372
esv3619202 CNV loss 21293372
esv3619203 CNV loss 21293372
esv3619206 CNV gain 21293372
esv3619207 CNV loss 21293372
esv3619208 CNV gain 21293372
esv3619210 CNV loss 21293372
esv3619211 CNV loss 21293372
esv3619212 CNV gain 21293372
esv3619213 CNV loss 21293372
esv3619214 CNV loss 21293372
esv3619215 CNV gain 21293372
esv3619216 CNV loss 21293372
esv3619217 CNV loss 21293372
esv3619218 CNV loss 21293372
esv3619219 CNV gain 21293372
esv3619220 CNV loss 21293372
esv3619221 CNV loss 21293372
esv3619222 CNV gain 21293372
esv3619223 CNV loss 21293372
esv3619224 CNV loss 21293372
esv3619225 CNV loss 21293372
esv3619226 CNV gain 21293372
esv3891500 CNV loss 25118596
esv3891502 CNV gain 25118596
esv3891506 CNV gain+loss 25118596
esv3891512 CNV gain 25118596
esv3891513 CNV loss 25118596
esv4369 CNV loss 18987735
esv993787 CNV deletion 20482838
esv994244 CNV gain 20482838
nsv1016807 CNV gain 25217958
nsv1021740 CNV gain 25217958
nsv1023836 CNV loss 25217958
nsv1024728 CNV loss 25217958
nsv1028362 CNV gain 25217958
nsv1032471 CNV gain 25217958
nsv1034085 CNV loss 25217958
nsv1035052 CNV loss 25217958
nsv1075184 CNV deletion 25765185
nsv1076128 CNV deletion 25765185
nsv1110001 CNV deletion 24896259
nsv1110002 CNV deletion 24896259
nsv1115148 CNV deletion 24896259
nsv1117860 CNV deletion 24896259
nsv1124393 CNV deletion 24896259
nsv1142545 CNV tandem duplication 24896259
nsv1150025 CNV deletion 26484159
nsv1161818 CNV duplication 26073780
nsv416517 CNV deletion 16902084
nsv416596 CNV deletion 16902084
nsv433253 CNV loss 18776910
nsv437637 CNV loss 16327808
nsv437638 CNV loss 16327808
nsv437639 CNV loss 16327808
nsv438086 CNV loss 16468122
nsv438087 CNV loss 16468122
nsv442534 CNV loss 18776908
nsv442535 CNV loss 18776908
nsv466044 CNV gain 19166990
nsv466051 CNV loss 19166990
nsv466052 CNV loss 19166990
nsv466065 CNV loss 19166990
nsv469655 CNV gain 16826518
nsv471267 CNV gain 18288195
nsv471268 CNV gain 18288195
nsv471269 CNV loss 18288195
nsv477068 CNV novel sequence insertion 20440878
nsv499181 CNV loss 21111241
nsv499315 CNV loss 21111241
nsv512082 CNV loss 21212237
nsv515144 CNV gain+loss 21397061
nsv515145 CNV loss 21397061
nsv515146 CNV loss 21397061
nsv516314 CNV loss 19592680
nsv516951 CNV loss 19592680
nsv517150 CNV loss 19592680
nsv523525 CNV gain 19592680
nsv527958 CNV loss 19592680
nsv528413 CNV gain 19592680
nsv528489 CNV loss 19592680
nsv529028 CNV gain 19592680
nsv613011 CNV gain 21841781
nsv613014 CNV gain 21841781
nsv613015 CNV loss 21841781
nsv613018 CNV loss 21841781
nsv613019 CNV gain 21841781
nsv613020 CNV gain 21841781
nsv613021 CNV loss 21841781
nsv613023 CNV loss 21841781
nsv613028 CNV loss 21841781
nsv613033 CNV loss 21841781
nsv613036 CNV loss 21841781
nsv613037 CNV gain 21841781
nsv613038 CNV loss 21841781
nsv6452 CNV deletion 18451855
nsv6453 CNV deletion 18451855
nsv818669 CNV loss 17921354
nsv818670 CNV loss 17921354
nsv818671 CNV loss 17921354
nsv820823 CNV deletion 20802225
nsv8404 CNV loss 18304495
nsv8405 CNV gain+loss 18304495
nsv950830 CNV deletion 24416366
nsv956121 CNV deletion 24416366
nsv973465 CNV deletion 23825009
nsv973855 CNV deletion 23825009

Variation tolerance for KANK1 Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.03; 97.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KANK1 Gene

Human Gene Mutation Database (HGMD)
KANK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KANK1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANK1 Gene

Disorders for KANK1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for KANK1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
cerebral palsy, spastic quadriplegic, 2
  • cpsq2
inherited congenital spastic tetraplegia
  • inherited congenital spastic quadriplegia
cerebral palsy
  • infantile cerebral palsy
metanephric adenoma
spastic quadriplegia
  • quadriplegic infantile cerebral palsy
- elite association - COSMIC cancer census association via MalaCards
Search KANK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KANK1_HUMAN
  • Cerebral palsy, spastic quadriplegic 2 (CPSQ2) [MIM:612900]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly. {ECO:0000269 PubMed:16301218}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KANK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KANK1: view

No data available for Genatlas for KANK1 Gene

Publications for KANK1 Gene

  1. A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma. (PMID: 12133830) Sarkar S … Kiyama R (The Journal of biological chemistry 2002) 2 3 4 23
  2. Kank attenuates actin remodeling by preventing interaction between IRSp53 and Rac1. (PMID: 19171758) Roy BC … Kiyama R (The Journal of cell biology 2009) 3 4 23
  3. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. (PMID: 25961457) Gee HY … Hildebrandt F (The Journal of clinical investigation 2015) 3 4
  4. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M … Probst-Hensch NM (The Journal of allergy and clinical immunology 2012) 3 41
  5. Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing. (PMID: 22084092) Li CC … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4

ExternalLinks

View latest publications for KANK1 gene in Mastermind

Products for KANK1 Gene

  • Addgene plasmids for KANK1

Sources for KANK1 Gene