Free for academic non-profit institutions. Other users need a Commercial license
Aliases for JHY Gene
Aliases for JHY Gene
External Ids for JHY Gene
- HGNC: 26288
- Entrez Gene: 79864
- Ensembl: ENSG00000109944
- OMIM: 617594
- UniProtKB: Q6NUN7
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 and Neuronopathy, Distal Hereditary Motor, Type Iib.
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
- HGNC(26288)
- Entrez Gene(79864)
- Ensembl(ENSG00000109944)
- OMIM(617594)
- UniProtKB(Q6NUN7)
- Open Targets Platform(ENSG00000109944)
- Search for JHY at DataMed
- Search for JHY at HumanCyc
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 Pubs
Promoters and enhancers for JHY 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 JHY on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JHY
Genomic Locations for JHY Gene
Genomic Locations for JHY Gene
- chr11:122,882,528-122,963,862
- (GRCh38/hg38)
- Size:
- 81,335 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:
-
- 11q24.1 by HGNC
- 11q24.1 by Entrez Gene
- 11q24.1 by Ensembl
JHY 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 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
- 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};
Post-translational modifications for JHY Gene
Other Protein References for JHY Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for JHY
- Invitrogen Antibodies for JHY (AFLGC-JHY)
- antibodies-online: Show 3 available C11ORF63 Antibodies ranked by validation data
Protein Products
-
OriGene Purified Proteins for JHY
- Search Origene for MassSpec and Protein Over-expression Lysates for JHY
- Origene Custom Protein Services for JHY
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
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
Phenotypes for JHY Gene
- MGI mutant phenotypes for JHY:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for JHY:
-
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability ratio
- Decreased viability of wild-type and TP53 knockout cells
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased influenza A/WSN/33 replication
- Increased S DNA content
- Decreased viability with paclitaxel
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for JHY - Select products 50% OFF >
- * JHY 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 JHY
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JHY
miRNA for JHY Gene
- miRTarBase miRNAs that target JHY
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JHY
- Browse OriGene Inhibitory RNA Products For JHY
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JHY
Clone Products
- Applied Biological Materials (abm): Clones for JHY - Select products 50% OFF >
- * JHY 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 JHY
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JHY
Cell Line Products
-
Horizon Cell Lines 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
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
- Golgi apparatus (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for JHY Gene
Pathways & Interactions 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 | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for JHY Gene
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 :
-
- ENST00000227349 7057 nts (view in UCSC)
- ENST00000307257 1964 nts (view in UCSC)
- ENST00000531316 2782 nts (view in UCSC)
- ENST00000534362 1063 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for JHY - Select products 50% OFF >
- * JHY 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 JHY
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JHY
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JHY
- Browse OriGene Inhibitory RNA Products For JHY
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JHY
Clone Products
- Applied Biological Materials (abm): Clones for JHY - Select products 50% OFF >
- * JHY 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 JHY
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JHY
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
-
Neural Tube (Nervous System)
- Floor Plate Cells Spinal Floor Plate
- Mesencephalic Floor Plate
- Spinal Floor Plate
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JHY
Evidence on tissue expression from TISSUES for JHY Gene
- Lung(4.1)
Primer Products
-
OriGene qPCR primer pairs for JHY
-
OriGene qPCR primer pairs and template standards for JHY
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LOC451628 30 |
|
||
| C11orf63 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | C5H11orf63 30 |
|
||
| C11orf63 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | C15H11orf63 30 |
|
||
| C11orf63 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | 4931429I11Rik 30 31 |
|
OneToOne | |
| Jhy 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | RGD1309108 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | C11orf63 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | C11orf63 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C24H11orf63 30 |
|
||
| C11orf63 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | C11orf63 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | C10H11orf63 31 |
|
OneToOne |
- Species where no ortholog for JHY 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)
- 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 Vase (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)
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 |
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hydrocephalus |
|
|
| neuronopathy, distal hereditary motor, type iib |
|
|
Search JHY in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for JHY
No data available for UniProtKB/Swiss-Prot and Genatlas for JHY Gene
Publications for JHY Gene
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- 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
- 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
- Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3
ExternalLinks
Products for JHY Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for JHY
- Search Origene for MassSpec and Protein Over-expression Lysates for JHY
- Origene Custom Protein Services for JHY
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JHY
- Browse OriGene Inhibitory RNA Products For JHY
- OriGene qPCR primer pairs for JHY
- OriGene qPCR primer pairs and template standards for JHY
- OriGene CRISPR knockouts for JHY
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For JHY
- Sino Biological Human cDNA Clone for JHY
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for JHY
- Novus Biologicals proteins and lysates for JHY
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for JHY (AFLGC-JHY)
- VectorBuilder Custom and pre-made DNA vectors for JHY (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for JHY (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for JHY (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for JHY CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for JHY
- antibodies-online: Show 3 available C11ORF63 Antibodies ranked by validation data
- antibodies-online: Search results for available C11ORF63 related products ranked by validation data
- antibodies-online: Search results for available C11ORF63 related products ranked by validation data
- Horizon Cell Lines for JHY
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JHY
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JHY
- Search GeneCopoeia for miRNA 3'UTR Target clone products for JHY
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JHY
Sources for JHY Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB