FRMPD4 - FERM and PDZ domain containing 4 Gene

Also Known as MRX104; PDZD10; PDZK10; XLID104

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9758

About FRMPD4

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:11,822,439-12,724,523 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 3.1) and heart (RPKM 0.2).

Summary

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with Other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

FRMPD4 Products (9)

mRNA	Protein	Name
NM_001368395.3	NP_001355324.1	FERM and PDZ domain-containing protein 4 isoform a
NM_001368396.3	NP_001355325.1	FERM and PDZ domain-containing protein 4 isoform b
NM_001368397.1	NP_001355326.1	FERM and PDZ domain-containing protein 4 isoform c
NM_001368398.3	NP_001355327.1	FERM and PDZ domain-containing protein 4 isoform d
NM_001368399.3	NP_001355328.1	FERM and PDZ domain-containing protein 4 isoform f
NM_001368400.3	NP_001355329.1	FERM and PDZ domain-containing protein 4 isoform g
NM_001368401.1	NP_001355330.1	FERM and PDZ domain-containing protein 4 isoform h
NM_001368402.3	NP_001355331.1	FERM and PDZ domain-containing protein 4 isoform h
NM_014728.3	NP_055543.2	FERM and PDZ domain-containing protein 4 isoform e

FRMPD4 Protein Structure

PDZ

FERM_M

0
300
600
900
1200
1322 a.a.

Protein Preferred Names	Protein Names
FERM and PDZ domain-containing protein 4	PDZ domain-containing protein 10

FRMPD4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FRMPD4	Q14CM0	DLG1	Homo sapiens	Q12959	Phage Display	24550280

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 104	XLID104 Mrx104 Mental Retardation, X-Linked 104 Mental Retardation, X-Linked, Type 104
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 9	Mrx44 Mrx9 X-Linked Mental Retardation 44
Usher Syndrome, Type Iid	Usher Syndrome Type 2d USH2D Usher Syndrome, Type 2d Usher Syndrome Type Iid Usher Syndrome 2d Usher Syndrome, Type Ii
Variegate Porphyria	Porphyria Variegata Protoporphyrinogen Oxidase Deficiency VP Ppox Deficiency Porphyria, South African Type Porphyria Variegata, Susceptibility To Protocoproporphyria Porphyria Variegate Porphyria South African Type Pv Porphyria, Variegate Vp - [Variegate Porphyria]
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii

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-RS05109	FRMPD4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FRMPD4	VGNC	VGNC:54434
Rattus norvegicus	FRMPD4	RGD	RGD:1566031
Canis familiaris	FRMPD4	VGNC	VGNC:54142
Macaca mulatta	FRMPD4	VGNC	VGNC:72802
Felis catus	FRMPD4	VGNC	VGNC:62366
Mus musculus	FRMPD4	MGD	MGI:3042378
Others	FRMPD4	NCBI