2. Gene
  3. EFR3B - EFR3 homolog B Gene

EFR3B - EFR3 homolog B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
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