• Gene id: 79864

Gene Summary

• Gene Symbol: JHY   Gene   UCSC   Ensembl
• Aliases: C11orf63
• Gene name: junctional cadherin complex regulator
• Alternate names: jhy protein homolog, juvenile hydrocephalus, uncharacterized protein C11orf63,
• Gene location: 11q24.1 (160991520: 161117384)     Exons: 30     NC_000006.12
• OMIM: 617594

Protein Summary

• Protein general information: Q6NUN7  
  • Name: Jhy protein homolog
  • Length: 778  
  • Mass: 88569
• Sequence:

  MSKRKLIPKLSIQSPVLHTNLNVQSTHPPLKKEDLHRISKDSLESDSESLTQEIMCHSEFDDRIRGNGMEPDSLD
  EEESPRWGSLHEMEEEASGKAAQMAREQNHHTWDQGANNRQQPIEDKYSDLRYDPNWKSKKEEGQLLSVEALPES
  TDSSLENLPLAPLYPSQETSMELSGGKGEQKESPQSAASLLGSEFLSPNYEHGARRSKPFSELSDSDLEEKSSSL
  SPYVKSSSSHNEVFLPGSRGPRRRKSKQHFVEKNKLTLGLPTPKTDSYLQLHNKKRGESHPEQISYPVRVTDKTS
  IQNAKEMENAAIDPEDKWHQRAQQLKNYQEHWSQYESTKSSNVPRGQPSDMVNDHQPSRRPAKLKIRKQCKHQNG
  LKSSTTEEVTASQGNQNNPPRQQQNQNKPLDTSTKPESIVIMHASNNDVQASRALRSHNLKETSNTFAPPKQAFD
  KVLSKNSTGCDSGLNVNKERGHKDQEEKRFSYQQLHTLSDMDLNNLNELSKRHVLLSQKGSQFVYHINTHGSTKN
  KKQLKQPYTETKYRNLEMLWKFHSSSDSQTVRASPDSWLTQIMEQHQQALVQLTDVQPSEGALSSVTLPPILSRV
  ESESQLSSERSQRNQVKISRSNSEGYLFQLEKGKKHKKRSSSKNTKLKGYQKRDVKLGGLGPDFESIRDKTQKLI
  QQKEYAKQVKEYNMKTLSILSKPQTEKTQKKSAIPRQKALEYAKTIPKPKPSNLTHQASKEQKNPTYAGKEESLP
  EISLLEILQNRHEREKQAVAAFKVLHIV

• Structural information:
  • Interpro: IPR027968  
• Other Databases: GeneCards:  JHY  Malacards:  JHY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007420	brain development	IBA	biological process
GO:0032053	ciliary basal body organization	IBA	biological process
GO:0035082	axoneme assembly	IBA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0035082	axoneme assembly	IEA	biological process
GO:0033326	cerebrospinal fluid secretion	IEA	biological process
GO:0032053	ciliary basal body organization	IEA	biological process
GO:0007420	brain development	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R