FRMD6 - FERM domain containing 6 Gene

中文名称：含 FERM 域 6

种属: Homo sapiens

同用名: EX1; Willin; C14orf31; c14_5320

基因 ID: 122786 | 基因类型: protein coding

关于 FRMD6

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:51,396,431-51,730,727 (from NCBI)

This gene has 18 transcripts (splice variants), 222 orthologues and 10 paralogues. Broad expression in esophagus (RPKM 25.5), endometrium (RPKM 24.1) and 23 other tissues.

功能概要

预测参与肌动球蛋白结构组织。预计在顶端收缩的上游或内部起作用；细胞蛋白定位；和调节基于肌动蛋白丝的过程。预测位于根尖交界复合体。预测在细胞骨架中有活性。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within apical constriction; cellular protein localization; and regulation of actin filament-based process. Predicted to be located in apical junction complex. Predicted to be active in Cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]

FRMD6 基因产物(4)

mRNA	Protein	Name
NM_001042481.3	NP_001035946.1	FERM domain-containing protein 6 isoform 1
NM_001267046.2	NP_001253975.1	FERM domain-containing protein 6 isoform 2
NM_001267047.1	NP_001253976.1	FERM domain-containing protein 6 isoform 3
NM_152330.4	NP_689543.1	FERM domain-containing protein 6 isoform 1

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	16137681	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	16137681	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FRMD6 蛋白结构

FERM_N

FERM_M

FERM_C

0
100
200
300
400
500
622 a.a.

蛋白主名

其他名称

FERM domain-containing protein 6

4.1 ezrin radixin moesin (FERM)-containing protein

FRMD6 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	FRMD6	Q96NE9	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	MID2	Homo sapiens	Q9UJV3-2	Y2H Array	25416956
种属内	FRMD6	Q96NE9	WDR7	Homo sapiens	A2RRE0	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	COX6B2	Homo sapiens	Q6YFQ2	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Prey Pooling	25416956
种属内	FRMD6	Q96NE9	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Array	25416956
种属内	FRMD6	Q96NE9	BLZF1	Homo sapiens	Q9H2G9	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	HMBOX1	Homo sapiens	Q6NT76	Y2H Prey Pooling	25416956
种属内	FRMD6	Q96NE9	HMBOX1	Homo sapiens	Q6NT76	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	HMBOX1	Homo sapiens	Q6NT76	Y2H Array	25416956
种属内	FRMD6	Q96NE9	RASSF8	Homo sapiens	Q8NHQ8	Anti Tag CoIP	33961781
种属内	FRMD6	Q96NE9	MED4	Homo sapiens	Q9NPJ6	Y2H Prey Pooling	25416956
种属内	FRMD6	Q96NE9	MED4	Homo sapiens	Q9NPJ6	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	MED4	Homo sapiens	Q9NPJ6	Y2H Array	25416956
种属内	FRMD6	Q96NE9	DNAJA3	Homo sapiens	Q96EY1-2	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	LZTS2	Homo sapiens	Q9BRK4	Y2H Prey Pooling	25416956
种属内	FRMD6	Q96NE9	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
种属内	FRMD6	Q96NE9	MLH1	Homo sapiens	P40692	Y2H Array	29892012
种属内	FRMD6	Q96NE9	MLH1	Homo sapiens	P40692	Y2H Array	31515488
种属内	FRMD6	Q96NE9	JMJD6	Homo sapiens	Q6NYC1	Validated Y2H	25416956
种属内	FRMD6	Q96NE9	JMJD6	Homo sapiens	Q6NYC1	Y2H Array	25416956
种属内	FRMD6	Q96NE9	JMJD6	Homo sapiens	Q6NYC1	Y2H Prey Pooling	25416956
种属内	FRMD6	Q96NE9	EXOC5	Homo sapiens	O00471	Y2H Array	25416956
种属内	FRMD6	Q96NE9	EXOC5	Homo sapiens	O00471	Validated Y2H	25416956

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

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Noonan Syndrome 3

NS3	Noonan Syndrome, Type 3

Joubert Syndrome 7

JBTS7	Cerebello-Oculo-Renal Syndrome 3
Cors3	Joubert Syndrome, Type 7

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

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-RS05104	FRMD6 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	FRMD6	VGNC	VGNC:29117
Canis familiaris	FRMD6	VGNC	VGNC:40983
Rattus norvegicus	FRMD6	RGD	RGD:727810
Macaca mulatta	FRMD6	VGNC	VGNC:72747
Felis catus	FRMD6	VGNC	VGNC:62363
Mus musculus	FRMD6	MGD	MGI:2442579

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