FRMPD4 - FERM and PDZ domain containing 4 Gene

Homo sapiens

Also known as MRX104; PDZD10; PDZK10; XLID104

Gene ID: 9758 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05109	FRMPD4 Human Pre-designed siRNA Set A		/	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

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