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Aliases for KY Gene

Aliases for KY Gene

  • Kyphoscoliosis Peptidase 2 3 5
  • EC 3.4.-.- 4
  • MFM7 3

External Ids for KY Gene

Previous GeneCards Identifiers for KY Gene

  • GC03M135644
  • GC03M135804
  • GC03M134318
  • GC03M131695

Summaries for KY Gene

GeneCards Summary for KY Gene

KY (Kyphoscoliosis Peptidase) is a Protein Coding gene. Diseases associated with KY include Myofibrillar Myopathy 7. GO annotations related to this gene include peptidase activity.

UniProtKB/Swiss-Prot for KY Gene

  • Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KY Gene

Genomics for KY Gene

Regulatory Elements for KY Gene

Enhancers for KY 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
GH03F134685 0.2 ENCODE 11.5 -34.7 -34701 1.4 KDM1A FOS EGR2 KY EPHB1 CEP63 RNU6-1174P
GH03F134710 0.5 Ensembl 11.5 -58.4 -58424 0.2 SIN3A KY RNU6-1174P
GH03F134590 0.4 FANTOM5 10.7 +60.6 60557 0.4 ARID4B RAD21 YY1 CREM CEBPB NR2F2 NFIL3 MBD2 MAFF SMARCA4 ANAPC13 CEP63 KY LOC101927568 GC03P134564 PIR32535
GH03F134650 0.8 ENCODE 0.8 +0.4 365 2.1 CTCF SUZ12 CBX2 SIN3A RAD21 NR2F2 JUND POLR2A GLIS1 KDM1A ANAPC13 KY GC03M134600
GH03F134644 1 ENCODE 0.4 +6.4 6394 2.1 PKNOX1 SIN3A YY1 RFX5 GLIS2 ZNF366 ZNF263 SP3 ZEB2 REST ANAPC13 CEP63 KY GC03M134600
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KY on UCSC Golden Path with GeneCards custom track

Promoters for KY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001374473 677 1201 CTCF SUZ12 CBX2 SIN3A RAD21 NR2F2 ZNF316 JUND POLR2A GLIS1

Genomic Location for KY Gene

Chromosome:
3
Start:
134,599,923 bp from pter
End:
134,651,677 bp from pter
Size:
51,755 bases
Orientation:
Minus strand

Genomic View for KY Gene

Genes around KY on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for KY Gene

Proteins for KY Gene

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

    Protein Symbol:
    Q8NBH2-KY_HUMAN
    Recommended name:
    Kyphoscoliosis peptidase
    Protein Accession:
    Q8NBH2
    Secondary Accessions:
    • B7Z1S4
    • Q6ZT15

    Protein attributes for KY Gene

    Size:
    561 amino acids
    Molecular mass:
    63855 Da
    Quaternary structure:
    • Interacts with IGFN1 and FLNC.

    Alternative splice isoforms for KY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KY Gene

Post-translational modifications for KY Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KY Gene

Domains & Families for KY Gene

Protein Domains for KY Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KY Gene

Graphical View of Domain Structure for InterPro Entry

Q8NBH2

UniProtKB/Swiss-Prot:

KY_HUMAN :
  • Belongs to the transglutaminase-like superfamily.
Family:
  • Belongs to the transglutaminase-like superfamily.
genes like me logo Genes that share domains with KY: view

No data available for Gene Families for KY Gene

Function for KY Gene

Molecular function for KY Gene

UniProtKB/Swiss-Prot Function:
Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity).

Enzyme Numbers (IUBMB) for KY Gene

Gene Ontology (GO) - Molecular Function for KY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KY: view
genes like me logo Genes that share phenotypes with KY: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KY Gene

Localization for KY Gene

Subcellular locations from UniProtKB/Swiss-Prot for KY Gene

Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KY Gene COMPARTMENTS Subcellular localization image for KY gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for KY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with KY: view

Pathways & Interactions for KY Gene

SuperPathways for KY Gene

No Data Available

Gene Ontology (GO) - Biological Process for KY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with KY: view

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

Transcripts for KY Gene

Unigene Clusters for KY Gene

Kyphoscoliosis peptidase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12
SP1: - -
SP2: - - - - - -
SP3:

Relevant External Links for KY Gene

GeneLoc Exon Structure for
KY
ECgene alternative splicing isoforms for
KY

Expression for KY Gene

mRNA expression in normal human tissues for KY Gene

mRNA differential expression in normal tissues according to GTEx for KY Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x4.9), Pituitary (x4.6), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for KY Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (67.7).

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



Protein tissue co-expression partners for KY Gene

NURSA nuclear receptor signaling pathways regulating expression of KY Gene:

KY

SOURCE GeneReport for Unigene cluster for KY Gene:

Hs.146730
genes like me logo Genes that share expression patterns with KY: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for KY Gene

Orthologs for KY Gene

This gene was present in the common ancestor of animals.

Orthologs for KY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KY 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia KY 34 35
  • 89.56 (n)
mouse
(Mus musculus)
Mammalia Ky 34 16 35
  • 87.64 (n)
rat
(Rattus norvegicus)
Mammalia Ky 34
  • 86.14 (n)
oppossum
(Monodelphis domestica)
Mammalia KY 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves KY 34 35
  • 66.3 (n)
lizard
(Anolis carolinensis)
Reptilia KY 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494696 34
  • 57.33 (n)
zebrafish
(Danio rerio)
Actinopterygii ky 35
  • 21 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hil 35
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ltd-1 35
  • 18 (a)
OneToOne
Species where no ortholog for KY 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 KY Gene

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

Paralogs for KY Gene

No data available for Paralogs for KY Gene

Variants for KY Gene

Sequence variations from dbSNP and Humsavar for KY Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs377332009 Pathogenic 134,625,131(+) CAGGG(A/G)TAGGC intron-variant, reference, synonymous-codon
rs10212595 -- 134,649,792(+) TACTT(A/T)AGCAA intron-variant
rs10647203 -- 134,635,493(+) CTGTA(-/AA/AAA/AAAA)AAAAA intron-variant
rs10935123 -- 134,626,485(+) GCAGG(C/G)TGTGG intron-variant
rs1105002 -- 134,607,830(+) GGAAA(C/T)GGCTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2669745 CNV deletion 23128226
esv3597857 CNV loss 21293372
nsv1002382 CNV gain 25217958
nsv520371 CNV loss 19592680
nsv829730 CNV loss 17160897

Variation tolerance for KY Gene

Residual Variation Intolerance Score: 55.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KY Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KY

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

Disorders for KY Gene

MalaCards: The human disease database

(1) MalaCards diseases for KY Gene - From: ClinVar

Disorder Aliases PubMed IDs
myofibrillar myopathy 7
  • alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy
- elite association - COSMIC cancer census association via MalaCards
Search KY in MalaCards View complete list of genes associated with diseases

Relevant External Links for KY

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

No data available for UniProtKB/Swiss-Prot and Genatlas for KY Gene

Publications for KY Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. (PMID: 15385448) Beatham J. … Blanco G. (Hum. Mol. Genet. 2004) 3 4 64
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4 64

Products for KY Gene

Sources for KY Gene

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