Aliases for JHY Gene

Aliases for JHY Gene

  • Junctional Cadherin Complex Regulator 2 3 5
  • Juvenile Hydrocephalus 2 3
  • Jhy Protein Homolog 3 4
  • C11orf63 3 4
  • Chromosome 11 Open Reading Frame 63 2
  • Uncharacterized Protein C11orf63 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 Summary 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 , Rfam classification 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
GH11J122882 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 508.7 +1.5 1462 2.6 PHF8 ZFX ZIC2 CLOCK ZBTB26 TRIM28 SAP30 RFX1 EZH2 POLR2A JHY CRTAM BSX RF00017-1055
GH11J122879 Enhancer 0.6 Ensembl 509 -1.4 -1438 1.6 NFE2 IKZF1 MAFG CTCF RAD21 NFE2L2 ZNF143 EBF1 IKZF2 EED JHY lnc-BSX-3
GH11J123055 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +179.5 179473 10.9 ZBTB40 EP300 SIN3A NRF1 POLR2G USF1 SP1 BCLAF1 GTF2E2 JUND ENSG00000288061 HSPA8 LOC101929289 SNORD14C lnc-CLMP-3 piR-59038 piR-61486 ZNF202 CLMP JHY
GH11J122841 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 15.7 -37.7 -37681 4.6 ZSCAN5C SIN3A ZNF639 ZNF10 ZIC2 TRIM28 RCOR1 TEAD1 OSR2 CREB1 ZNF202 JHY CRTAM ENSG00000285909
GH11J122855 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.9 -25.0 -25015 2.3 SP1 JUND FOS EP300 RELA MEF2C REST TRIM22 BCL11A TCF12 lnc-BSX-3 JHY BSX CRTAM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JHY on UCSC Golden Path with GeneCards custom track

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

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)
Size:
77,116 bases
Orientation:
Plus strand

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-JHY_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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15691.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Other Protein References for JHY Gene

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

CRISPR Products

miRNA for JHY Gene

miRTarBase miRNAs that target JHY

Inhibitory RNA Products

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

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 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

PathCards logo

SuperPathways for JHY Gene

No Data Available

Interacting Proteins for JHY Gene

;

Gene Ontology (GO) - Biological Process for JHY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IBA 21873635
GO:0030030 cell projection organization IEA --
GO:0032053 ciliary basal body organization IBA 21873635
GO:0033326 cerebrospinal fluid secretion IEA --
GO:0035082 axoneme assembly IBA,IEA 21873635
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

mRNA/cDNA for JHY Gene

5 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for JHY Gene

GeneLoc Exon Structure for
JHY

Expression for JHY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.08 (n)
C11orf63 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C5H11orf63 30
  • 84.02 (n)
C11orf63 31
  • 74 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C15H11orf63 30
  • 82.4 (n)
C11orf63 31
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4931429I11Rik 31 30
  • 75.71 (n)
OneToOne
Jhy 17
rat
(Rattus norvegicus)
Mammalia RGD1309108 30
  • 74.15 (n)
oppossum
(Monodelphis domestica)
Mammalia C11orf63 31
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf63 31
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves C24H11orf63 30
  • 55.27 (n)
C11orf63 31
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C11orf63 31
  • 31 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C10H11orf63 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JHY Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs33999612 - p.His486Arg

Additional dbSNP identifiers (rs#s) for JHY Gene

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
- 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 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3 54

Products for JHY Gene

Sources for JHY Gene