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Gene : EFR3A Homo sapiens

Name  ? EFR3 homolog A Cytological Location  8q24.22
Brief Description  EFR3 homolog A
Description  The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]
  • synonyms:
  • EFR3A,
  • KIAA0143,
  • NM_015137,
  • OTTHUMG00000150552,
  • HGNC:28970,
  • EFR3 homolog A (S. cerevisiae),
  • uc003yte.4,
  • D63477
  • identifiers:
  • 23167,
  • ENSG00000132294,
  • EFR3A

Genome feature

Region: gene ? Length: 109550  
Location: 8:131904093-132013642 Cyto location: 8q24.22


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

16 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results