EFR3A - EFR3 homolog A Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23167

About EFR3A

Cytogenetic location: 8q24.22 Genomic coordinates (GRCh38): 8:131,904,093-132,013,642 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 20.9), brain (RPKM 19.1) and 25 other tissues.

Summary

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]

EFR3A Products (7)

mRNA Protein Name
NM_001323553.2 NP_001310482.1 protein EFR3 homolog A isoform 2
NM_001323554.2 NP_001310483.1 protein EFR3 homolog A isoform 2
NM_001323555.2 NP_001310484.1 protein EFR3 homolog A isoform 2
NM_001323556.2 NP_001310485.1 protein EFR3 homolog A isoform 2
NM_001323557.2 NP_001310486.1 protein EFR3 homolog A isoform 2
NM_001323558.2 NP_001310487.1 protein EFR3 homolog A isoform 3
NM_015137.6 NP_055952.2 protein EFR3 homolog A isoform 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in protein localization to plasma membrane IMP
IMP: Inferred from mutant phenotype
23229899 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
23229899 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

protein EFR3 homolog A

Related Diseases

Diseases Alias
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Gastrointestinal Defects And Immunodeficiency Syndrome 1

  • Familial Intestinal Polyatresia Syndrome

  • Fipa

  • Gastrointestinal Defects And Immunodeficiency Syndrome

  • Multiple Gastrointestinal Atresias

  • Familial Isolated Pituitary Adenoma

  • Intestinal Atresia, Multiple

  • Multiple Intestinal Atresia

  • GIDID1

  • Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

  • Minat

  • Gidid

  • Meddra:10028210

  • Familial Isolated Pituitary Adenoma Syndrome

  • Intestinal Atresia Multiple

  • Combined Immunodeficiency-Enteropathy Spectrum

  • Cid-Mia/Early-Onset Ibd

  • Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

  • Mia

  • Gastrointestinal Defect And Immunodeficiency Syndrome

  • Pituitary Adenoma Predisposition

  • Pituitary Adenoma, Familial Isolated
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04200 EFR3A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta EFR3A VGNC VGNC:72136
Mus musculus EFR3A MGD MGI:1923990
Canis familiaris EFR3A VGNC VGNC:40231
Rattus norvegicus EFR3A RGD RGD:1305976
Felis catus EFR3A VGNC VGNC:61751
Bos taurus EFR3A VGNC VGNC:97264
Others EFR3A NCBI