EFR3B - EFR3 homolog B Gene

Also Known as KIAA0953

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22979

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23229899 GOA
Biological Process GO Annotation Evidence References 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 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 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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04201 EFR3B Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29493 Efr3b Mouse Pre-designed siRNA Set A Pre-designed Set / 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
Others EFR3B NCBI