FRMPD4 - FERM and PDZ domain containing 4 Gene

中文名称：含 FERM 和 PDZ 结构域 4

种属: Homo sapiens

同用名: MRX104; PDZD10; PDZK10; XLID104

基因 ID: 9758 | 基因类型: protein coding

关于 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).

功能概要

该基因编码含有蛋白质的多结构域 (WW、PDZ、FERM) 。通过与其他蛋白质 (如 PSD-95) 的相互作用，它作为树突棘形态发生和密度的正调节剂发挥作用，并且是维持兴奋性突触传递所必需的。[RefSeq 提供，2010 年 1 月]

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 基因产物(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 蛋白结构

PDZ

FERM_M

0
300
600
900
1200
1322 a.a.

蛋白主名

其他名称

FERM and PDZ domain-containing protein 4

PDZ domain-containing protein 10

FRMPD4 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	FRMPD4	Q14CM0	DLG1	Homo sapiens	Q12959	Phage Display	24550280

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05109	FRMPD4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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