FRMPD2 - FERM and PDZ domain containing 2 Gene

Also Known as PDZK4; PDZD5C; PDZK5C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 143162

About FRMPD2

Cytogenetic location: 10q11.22 Genomic coordinates (GRCh38): 10:48,156,559-48,274,895 (from NCBI)

This gene has 14 transcripts (splice variants), 178 orthologues and 5 paralogues. Biased expression in brain (RPKM 2.2), testis (RPKM 1.3) and 4 other tissues.

Summary

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two Other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

FRMPD2 Products (3)

mRNA Protein Name
NM_001018071.4 NP_001018081.4 FERM and PDZ domain-containing protein 2 isoform 3
NM_001042512.3 NP_001035977.3 FERM and PDZ domain-containing protein 2 isoform 4
NM_001318191.1 NP_001305120.1 FERM and PDZ domain-containing protein 2 isoform 5 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables 1-phosphatidylinositol binding IDA
IDA: Inferred from direct assay
19706687 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19706687 GOA
Biological Process GO Annotation Evidence References Source
involved in bicellular tight junction assembly IMP
IMP: Inferred from mutant phenotype
19706687 GOA
Cellular Component GO Annotation Evidence References Source
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
19706687 GOA
located in bicellular tight junction IDA
IDA: Inferred from direct assay
19706687 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

FERM and PDZ domain-containing protein 2

  • PDZ domain containing 5C

Related Diseases

Diseases Alias
Wrinkly Skin Syndrome

  • WSS

  • Wrinkled Skin Syndrome
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-RS05108 FRMPD2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus FRMPD2 VGNC VGNC:50131
Rattus norvegicus FRMPD2 RGD RGD:1565652
Mus musculus FRMPD2 MGD MGI:2685472
Felis catus FRMPD2 VGNC VGNC:62365
Macaca mulatta FRMPD2 VGNC VGNC:72799
Others FRMPD2 NCBI