EFR3A - EFR3 homolog A Gene

Homo sapiens

Gene ID: 23167 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04200	EFR3A Human Pre-designed siRNA Set A		/	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

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