EFR3B - EFR3 homolog B Gene

Homo sapiens

Also known as KIAA0953

Gene ID: 22979 | Gene type: protein coding

About EFR3B

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:25,042,076-25,159,135 (from NCBI)

This gene has 5 transcripts (splice variants), 253 orthologues and 1 paralogue. Biased expression in brain (RPKM 12.6), lung (RPKM 1.9) and 6 other tissues.

Summary

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in actin cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

EFR3B Products(2)

mRNA	Protein	Name
NM_001319099.2	NP_001306028.1	protein EFR3 homolog B isoform 2
NM_014971.2	NP_055786.1	protein EFR3 homolog B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23229899	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phosphatidylinositol phosphate biosynthetic process	IDA IDA: Inferred from direct assay	23229899	GOA
involved in protein localization to plasma membrane	IDA IDA: Inferred from direct assay	23229899	GOA

Cellular Component GO Annotation	Evidence	Reference	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 B

Related Diseases

Diseases

Alias

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-RS04201	EFR3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EFR3B	RGD	RGD:1310845
Bos taurus	EFR3B	VGNC	VGNC:28362
Macaca mulatta	EFR3B	VGNC	VGNC:72139
Canis familiaris	EFR3B	VGNC	VGNC:40232
Mus musculus	EFR3B	MGD	MGI:2444851
Felis catus	EFR3B	VGNC	VGNC:61752

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