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Aliases for JHY Gene

Aliases for JHY Gene

  • Junctional Cadherin Complex Regulator 2 3 5
  • Juvenile Hydrocephalus 2 3
  • C11orf63 3 4
  • Chromosome 11 Open Reading Frame 63 2
  • Uncharacterized Protein C11orf63 3
  • Jhy Protein Homolog 3

External Ids for JHY Gene

Previous HGNC Symbols for JHY Gene

  • C11orf63

Summaries for JHY Gene

GeneCards Summary for JHY Gene

JHY (Junctional Cadherin Complex Regulator) is a Protein Coding gene. Diseases associated with JHY include Hydrocephalus.

UniProtKB/Swiss-Prot for JHY Gene

  • Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces.

Additional gene information for JHY Gene

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

Genomics for JHY Gene

GeneHancer (GH) Regulatory Elements for JHY Gene

Promoters and enhancers for JHY Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I122882 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 558.8 +1.7 1669 2 FOXA2 SMAD1 ZNF76 SIN3A ZNF335 GLIS2 ZNF143 ZNF207 ATF7 SP3 JHY CRTAM BSX GC11P122895
GH11I122855 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.9 -25.0 -24994 2.3 SMAD1 BMI1 BATF IRF4 ZNF335 EGR1 ATF7 ETV6 FOS BCLAF1 JHY BSX GC11P122841 CRTAM
GH11I122841 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.7 -37.7 -37681 4.6 FOXA2 SMAD1 MLX MZF1 FEZF1 RARA ZNF302 ZSCAN5C ATF7 IKZF2 ZNF202 JHY CRTAM GC11P122841
GH11I123082 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +204.2 204167 5.8 ELF3 PKNOX1 SMAD1 NFIB MZF1 YY1 ZNF366 ZSCAN5C FOS ATF7 CLMP BSX JHY GC11P123097 PIR37092 GC11P123096 HSPA8 LOC101929289
GH11I122815 Enhancer 0.9 Ensembl ENCODE dbSUPER 14.8 -64.7 -64745 1.9 CTBP1 JUND NFIB CREB1 DPF2 CRTAM JHY GC11M122758
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around JHY on UCSC Golden Path with GeneCards custom track

Genomic Locations for JHY Gene

Genomic Locations for JHY Gene
chr11:122,881,639-122,959,798
(GRCh38/hg38)
Size:
78,160 bases
Orientation:
Plus strand
chr11:122,753,391-122,830,506
(GRCh37/hg19)

Genomic View for JHY Gene

Genes around JHY on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for JHY Gene

Proteins for JHY Gene

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

    Protein Symbol:
    Q6NUN7-CK063_HUMAN
    Recommended name:
    Jhy protein homolog
    Protein Accession:
    Q6NUN7
    Secondary Accessions:
    • A8K6G0
    • Q96GB5
    • Q9H5D6

    Protein attributes for JHY Gene

    Size:
    778 amino acids
    Molecular mass:
    88569 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH09820.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15691.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for JHY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JHY Gene

Post-translational modifications for JHY Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for JHY Gene

Domains & Families for JHY Gene

Gene Families for JHY Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for JHY Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for JHY Gene

Function for JHY Gene

Molecular function for JHY Gene

UniProtKB/Swiss-Prot Function:
Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces.

Phenotypes From GWAS Catalog for JHY Gene

genes like me logo Genes that share phenotypes with JHY: view

Animal Model Products

miRNA for JHY Gene

miRTarBase miRNAs that target JHY

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for JHY Gene

Localization for JHY Gene

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 JHY gene
Compartment Confidence
nucleus 4
cytosol 2
golgi apparatus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for JHY Gene

Pathways & Interactions for JHY Gene

No Data Available

Interacting Proteins for JHY Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000227349%0d%0a9606.ENSP00000276326%0d%0a
Selected Interacting proteins: ENSP00000227349 Q6NUN7-CK063_HUMAN for JHY Gene via STRING IID

Gene Ontology (GO) - Biological Process for JHY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA --
GO:0030030 cell projection organization IEA --
GO:0032053 ciliary basal body organization IEA --
GO:0033326 cerebrospinal fluid secretion IEA --
GO:0035082 axoneme assembly IEA --
genes like me logo Genes that share ontologies with JHY: view

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

Drugs & Compounds for JHY Gene

No Compound Related Data Available

Transcripts for JHY Gene

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for JHY Gene

GeneLoc Exon Structure for
JHY
ECgene alternative splicing isoforms for
JHY

Expression for JHY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of JHY Gene:

JHY

Evidence on tissue expression from TISSUES for JHY Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with JHY: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for JHY Gene

Orthologs for JHY Gene

This gene was present in the common ancestor of chordates.

Orthologs for JHY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC451628 33
  • 99.08 (n)
C11orf63 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C5H11orf63 33
  • 84.02 (n)
C11orf63 34
  • 74 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C15H11orf63 33
  • 82.4 (n)
C11orf63 34
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4931429I11Rik 33 34
  • 75.71 (n)
Jhy 16
rat
(Rattus norvegicus)
Mammalia RGD1309108 33
  • 74.15 (n)
oppossum
(Monodelphis domestica)
Mammalia C11orf63 34
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf63 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves C24H11orf63 33
  • 55.27 (n)
C11orf63 34
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C11orf63 34
  • 31 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C10H11orf63 34
  • 26 (a)
OneToOne
Species where no ortholog for JHY 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for JHY Gene

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

Paralogs for JHY Gene

No data available for Paralogs for JHY Gene

Variants for JHY Gene

Sequence variations from dbSNP and Humsavar for JHY Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000042402 -- 122,958,284(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000055973 -- 122,923,100(+) C/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000141198 -- 122,961,334(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000174610 -- 122,880,090(+) A/G upstream_transcript_variant
rs1000191730 -- 122,961,527(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2661962 CNV deletion 23128226
esv3627950 CNV loss 21293372
nsv1040084 CNV loss 25217958
nsv1138082 CNV deletion 24896259
nsv510278 OTHER sequence alteration 20534489
nsv520988 CNV gain 19592680
nsv522969 CNV loss 19592680
nsv556482 CNV loss 21841781

Variation tolerance for JHY Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JHY Gene

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

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

Disorders for JHY Gene

MalaCards: The human disease database

(1) MalaCards diseases for JHY Gene - From: GeneCards

Disorder Aliases PubMed IDs
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive 1
- elite association - COSMIC cancer census association via MalaCards
Search JHY in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with JHY: view

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

Publications for JHY Gene

  1. Disruption of the mouse Jhy gene causes abnormal ciliary microtubule patterning and juvenile hydrocephalus. (PMID: 23906841) Appelbe OK … Schmidt JV (Developmental biology 2013) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 58
  5. The F-box protein FBXO25 promotes the proteasome-dependent degradation of ELK-1 protein. (PMID: 23940030) Teixeira FR … Gomes MD (The Journal of biological chemistry 2013) 3 58

Products for JHY Gene

Sources for JHY Gene

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