ENSG00000197256


Homo sapiens

Features
Gene ID: ENSG00000197256
  
Biological name :KANK2
  
Synonyms : KANK2 / KN motif and ankyrin repeat domains 2 / Q63ZY3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.2
Gene start: 11164267
Gene end: 11197791
  
Corresponding Affymetrix probe sets: 1569602_at (Human Genome U133 Plus 2.0 Array)   218418_s_at (Human Genome U133 Plus 2.0 Array)   221068_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468490
Ensembl peptide - ENSP00000465650
Ensembl peptide - ENSP00000464896
Ensembl peptide - ENSP00000464861
Ensembl peptide - ENSP00000468002
Ensembl peptide - ENSP00000468409
Ensembl peptide - ENSP00000465914
Ensembl peptide - ENSP00000467029
NCBI entrez gene - 25959     See in Manteia.
OMIM - 614610
RefSeq - NM_001329451
RefSeq - NM_001136191
RefSeq - NM_015493
RefSeq Peptide - NP_001129663
RefSeq Peptide - NP_056308
RefSeq Peptide - NP_001316380
swissprot - Q63ZY3
swissprot - K7EIU4
swissprot - K7EL48
swissprot - K7ERU2
swissprot - K7ES05
Ensembl - ENSG00000197256
  
Related genetic diseases (OMIM): 616099 - Palmoplantar keratoderma and woolly hair, 616099
  617783 - Nephrotic syndrome 16, 617783
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kank2ENSDARG00000018393Danio rerio
 Kank2ENSMUSG00000032194Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KANK1 / Q14678 / KN motif and ankyrin repeat domains 1ENSG0000010710439
KANK3 / Q6NY19 / KN motif and ankyrin repeat domains 3ENSG0000018699434
KANK4 / Q5T7N3 / KN motif and ankyrin repeat domains 4ENSG0000013285429


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR020683  Ankyrin repeat-containing domain
 IPR021939  Kank N-terminal motif
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0033147 negative regulation of intracellular estrogen receptor signaling pathway IDA
 biological_processGO:0043069 negative regulation of programmed cell death IDA
 biological_processGO:0070563 negative regulation of vitamin D receptor signaling pathway IMP
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000535 Sparse eyebrows 
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0002209 Sparse scalp hair "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson]
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0040149 Woolly scalp hair 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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