JHY (junctional cadherin complex regulator)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 79864
Gene name Junctional cadherin complex regulator
Gene symbol JHY
Synonyms (NCBI Gene)
C11orf63
Chromosome 11
Chromosome location 11q24.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0007420 Process Brain development IBA
GO:0007420 Process Brain development IEA
GO:0030030 Process Cell projection organization IEA
GO:0030154 Process Cell differentiation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617594 26288 ENSG00000109944
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NUN7
Protein name Jhy protein homolog
Protein function Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15261 JHY 656 → 775 Jhy protein Family
Sequence 
MSKRKLIPKLSIQSPVLHTNLNVQSTHPPLKKEDLHRISKDSLESDSESLTQEIMCHSEF
DDRIRGNGMEPDSLDEEESPRWGSLHEMEEEASGKAAQMAREQNHHTWDQGANNRQQPIE
DKYSDLRYDPNWKSKKEEGQLLSVEALPESTDSSLENLPLAPLYPSQETSMELSGGKGEQ
KESPQSAASLLGSEFLSPNYEHGARRSKPFSELSDSDLEEKSSSLSPYVKSSSSHNEVFL
PGSRGPRRRKSKQHFVEKNKLTLGLPTPKTDSYLQLHNKKRGESHPEQISYPVRVTDKTS
IQNAKEMENAAIDPEDKWHQRAQQLKNYQEHWSQYESTKSSNVPRGQPSDMVNDHQPSRR
PAKLKIRKQCKHQNGLKSSTTEEVTASQGNQNNPPRQQQNQNKPLDTSTKPESIVIMHAS
NNDVQASRALRSHNLKETSNTFAPPKQAFDKVLSKNSTGCDSGLNVNKERGHKDQEEKRF
SYQQLHTLSDMDLNNLNELSKRHVLLSQKGSQFVYHINTHGSTKNKKQLKQPYTETKYRN
LEMLWKFHSSSDSQTVRASPDSWLTQIMEQHQQALVQLTDVQPSEGALSSVTLPPILSRV
ESESQLSSERSQRNQVKISRSNSEGYLFQLEKGKKHKKRSSSKNTKLKGYQKRDVKLGGL
GPDFESIRDKTQKLIQQKEYAKQVKEYNMKTLSILSKPQTEKTQKKSAIPRQKALEYAKT
IPKPKPSNLTHQASKEQKNPTYAGKEESLPEISLLEILQNRHEREKQAVAAFKVLHIV
Sequence length 778
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Down Syndrome Down syndrome Pubtator 40667715 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30069967
★★★★★
★☆☆☆☆
Found in Text Mining only