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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... See more...
Aliases for KANK2 Gene
Aliases for KANK2 Gene
External Ids for KANK2 Gene
- HGNC: 29300
- Entrez Gene: 25959
- Ensembl: ENSG00000197256
- OMIM: 614610
- UniProtKB: Q63ZY3
Previous HGNC Symbols for KANK2 Gene
- MXRA3
- ANKRD25
Previous GeneCards Identifiers for KANK2 Gene
- GC19M011139
- GC19M011274
- GC19M010851
Summaries 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 Nephrotic Syndrome, Type 16. An important paralog of this gene is KANK1.
UniProtKB/Swiss-Prot Summary for KANK2 Gene
-
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).
Additional gene information for KANK2 Gene
- HGNC(29300)
- Entrez Gene(25959)
- Ensembl(ENSG00000197256)
- OMIM(614610)
- UniProtKB(Q63ZY3)
- Open Targets Platform(ENSG00000197256)
- Monarch Initiative
- Search for KANK2 at DataMed
- Search for KANK2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KANK2 Gene
Genomics for KANK2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KANK2 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 KANK2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KANK2
- Top Transcription factor binding sites by QIAGEN in the KANK2 gene promoter:
-
- Brachyury
- C/EBPbeta
- Elk-1
- Evi-1
- GATA-1
- Lmo2
- MZF-1
- p53
- Pax-5
- YY1
Genomic Locations for KANK2 Gene
Genomic Locations for KANK2 Gene
- chr19:11,164,267-11,197,865
- (GRCh38/hg38)
- Size:
- 33,599 bases
- Orientation:
- Minus strand
- chr19:11,274,943-11,308,467
- (GRCh37/hg19)
- 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:
-
- 19p13.2 by HGNC
- 19p13.2 by Entrez Gene
- 19p13.2 by Ensembl
KANK2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B0I1P4
- Q3KQZ3
- Q6GUF5
- Q9H8S4
- Q9NUP0
- Q9P210
Protein attributes for KANK2 Gene
- Size:
- 851 amino acids
- Molecular mass:
- 91174 Da
- Quaternary structure:
-
- Interacts (non-phosphorylated form) with NCOA1; NCOA2 AND NCOA3 (PubMed:17476305). Interacts with AIFM1 (PubMed:22371500). Interacts with ARHGDIA; the interaction is direct and may regulate the interaction of ARHGDIA with RHOA, RAC1 and CDC42 (PubMed:25961457).
- SequenceCaution:
-
- Sequence=BAA92081.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA96042.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14531.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for KANK2 Gene
Post-translational modifications for KANK2 Gene
- 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).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for KANK2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences KANK2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for KANK2
- Novus Biologicals Antibodies for KANK2
- Invitrogen Antibodies for KANK2 (AFLGC-KANK2)
- antibodies-online: Show 20 available KANK2 Antibodies ranked by validation data
-
Biorbyt antibodies for KANK2
-
Custom Antibody ServicesProSci Antibodies for KANK2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KANK2
- Origene Custom Protein Services for KANK2
- Novus Biologicals proteins for KANK2
No data available for DME Specific Peptides for KANK2 Gene
Domains & Families for KANK2 Gene
Gene Families for KANK2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for KANK2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KANK2 Gene
- GenScript: Design optimal peptide antigens:
-
- SRC-1-interacting protein (KANK2_HUMAN)
No data available for Graphical View of Domain Structure and 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 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).
Phenotypes From GWAS Catalog for KANK2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17476305 |
Phenotypes for KANK2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KANK2 - Select products 50% OFF >
- * KANK2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KANK2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KANK2
-
Santa Cruz Biotechnology (SCBT) CRISPR for KANK2
miRNA for KANK2 Gene
- miRTarBase miRNAs that target KANK2
-
- mmu-miR-15a-5p (MIRT011822)
- hsa-miR-193b-3p (MIRT016547)
- hsa-miR-155-5p (MIRT020755)
- hsa-miR-124-3p (MIRT022589)
- hsa-miR-1-3p (MIRT023699)
- hsa-miR-26b-5p (MIRT029311)
- hsa-miR-106b-5p (MIRT044246)
- hsa-miR-92a-3p (MIRT049313)
- mmu-miR-466f (MIRT592656)
- mmu-miR-466l-5p (MIRT592657)
- mmu-miR-466i-5p (MIRT592658)
- mmu-miR-466d-5p (MIRT592659)
- mmu-miR-466k (MIRT592660)
- hsa-miR-6780b-3p (MIRT617113)
- hsa-miR-6818-3p (MIRT617114)
- hsa-miR-6893-3p (MIRT617115)
- hsa-miR-370-3p (MIRT617116)
- hsa-miR-4793-5p (MIRT617117)
- hsa-miR-664a-3p (MIRT617118)
- hsa-miR-7151-5p (MIRT617119)
- hsa-miR-26a-2-3p (MIRT661214)
- hsa-miR-26a-1-3p (MIRT661215)
- hsa-miR-6731-3p (MIRT661216)
- hsa-miR-1321 (MIRT737336)
- hsa-miR-139-3p (MIRT737546)
- hsa-miR-3150b-3p (MIRT740309)
- hsa-miR-3928-3p (MIRT743042)
- hsa-miR-4270 (MIRT743572)
- hsa-miR-4441 (MIRT744539)
- hsa-miR-4681 (MIRT746928)
- hsa-miR-4739 (MIRT748054)
- hsa-miR-4756-5p (MIRT748426)
- hsa-miR-4784 (MIRT748826)
- hsa-miR-483-5p (MIRT749034)
- hsa-miR-6754-5p (MIRT754714)
- hsa-miR-7106-5p (MIRT758860)
- hsa-miR-765 (MIRT759565)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KANK2
- Browse OriGene Inhibitory RNA Products For KANK2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANK2
Clone Products
- Applied Biological Materials (abm): Clones for KANK2 - Select products 50% OFF >
- * KANK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KANK2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KANK2
Cell Line Products
-
Horizon Cell Lines for KANK2
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
| cytoskeleton | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA,IDA | 17476305 |
| GO:0005739 | mitochondrion | IEA,IDA | 22371500 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KANK2 Gene
Pathways & Interactions for KANK2 Gene
Interacting Proteins for KANK2 Gene
Selected Interacting proteins:
Q63ZY3-KANK2_HUMAN
ENSP00000468002
for KANK2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KANK2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,IDA | 17476305 |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0008285 | negative regulation of cell proliferation | IBA,IDA | 17476305 |
| GO:0033147 | negative regulation of intracellular estrogen receptor signaling pathway | IBA,IDA | 17476305 |
| GO:0035023 | regulation of Rho protein signal transduction | IMP | 25961457 |
No data available for Pathways by source and SIGNOR curated interactions for KANK2 Gene
Transcripts for KANK2 Gene
mRNA/cDNA for KANK2 Gene
- 19 REFSEQ mRNAs :
- 27 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000586659 5162 nts (view in UCSC)
- ENST00000587317 672 nts (view in UCSC)
- ENST00000588724 542 nts (view in UCSC)
- ENST00000588787 2952 nts (view in UCSC)
- ENST00000589359 3048 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KANK2 - Select products 50% OFF >
- * KANK2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KANK2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KANK2
-
Santa Cruz Biotechnology (SCBT) CRISPR for KANK2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KANK2
- Browse OriGene Inhibitory RNA Products For KANK2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANK2
Clone Products
- Applied Biological Materials (abm): Clones for KANK2 - Select products 50% OFF >
- * KANK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KANK2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KANK2
| 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
Expression for KANK2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Brain (Nervous System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KANK2
SOURCE GeneReport for Unigene cluster for KANK2 Gene:
Hs.284208mRNA 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
- Liver(4.4)
- Lung(4.4)
- Spleen(4.3)
- Nervous system(3.5)
- Skin(2.8)
- Muscle(2.7)
- Heart(2.6)
- Kidney(2.5)
- Intestine(2.3)
- Gall bladder(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KANK2 Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
Regions:
Head and neck:
- eye
- eyelid
- face
- forehead
- head
- scalp
Limb:
- foot
- hand
- lower limb
- upper limb
General:
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for KANK2
-
OriGene qPCR primer pairs and template standards for KANK2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KANK2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KANK2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KANK2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Kank2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kank2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | KANK2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KANK2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kank2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC571549 30 |
|
||
| kank2 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10249 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | vab-19 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| CSA.3164 31 |
|
ManyToMany |
- Species where no ortholog for KANK2 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)
- 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 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 KANK2 Gene
- ENSEMBL:
- Gene Tree for KANK2 (if available)
- TreeFam:
- Gene Tree for KANK2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KANK2: view image
Paralogs for KANK2 Gene
Variants for KANK2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KANK2 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 709957 | Likely Benign: not provided | 11,178,559(-) | C/T | MISSENSE_VARIANT | |
| 710381 | Benign: not provided | 11,193,491(-) | G/A | MISSENSE_VARIANT | |
| 713835 | Likely Benign: not provided | 11,170,213(-) | G/A | SYNONYMOUS_VARIANT | |
| 715318 | Benign: not provided | 11,193,042(-) | G/A | SYNONYMOUS_VARIANT | |
| 717273 | Benign: not provided | 11,174,555(-) | G/A | SYNONYMOUS_VARIANT |
| 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 |
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)
Additional Variant Information for KANK2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANK2 Gene
Disorders for KANK2 Gene
(12) MalaCards diseases for KANK2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| palmoplantar keratoderma and woolly hair |
|
|
| nephrotic syndrome, type 16 |
|
|
| nephrotic syndrome |
|
|
| pseudoainhum |
|
|
| striate palmoplantar keratoderma |
|
|
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.
- 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 mutations affecting the gene represented in this entry.
Additional Disease Information for KANK2
No data available for Genatlas for KANK2 Gene
Publications for KANK2 Gene
- 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
- 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
- KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. (PMID: 25961457) Gee HY … Hildebrandt F (The Journal of clinical investigation 2015) 3 4
- 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
- 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
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