FRMPD2 - FERM and PDZ domain containing 2 Gene

Homo sapiens

Also known as PDZK4; PDZD5C; PDZK5C

Gene ID: 143162 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05108	FRMPD2 Human Pre-designed siRNA Set A		/	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

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