FRMD6 - FERM domain containing 6 Gene

Homo sapiens

Also known as EX1; Willin; C14orf31; c14_5320

Gene ID: 122786 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16137681	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16137681	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FRMD6 Protein Structure

FERM_N

FERM_M

FERM_C

0
100
200
300
400
500
622 a.a.

Protein Preferred Names

Protein Names

FERM domain-containing protein 6

4.1 ezrin radixin moesin (FERM)-containing protein

FRMD6 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FRMD6	Q96NE9	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	MID2	Homo sapiens	Q9UJV3-2	Y2H Array	25416956
Intra	FRMD6	Q96NE9	WDR7	Homo sapiens	A2RRE0	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	COX6B2	Homo sapiens	Q6YFQ2	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Prey Pooling	25416956
Intra	FRMD6	Q96NE9	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Array	25416956
Intra	FRMD6	Q96NE9	BLZF1	Homo sapiens	Q9H2G9	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	HMBOX1	Homo sapiens	Q6NT76	Y2H Prey Pooling	25416956
Intra	FRMD6	Q96NE9	HMBOX1	Homo sapiens	Q6NT76	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	HMBOX1	Homo sapiens	Q6NT76	Y2H Array	25416956
Intra	FRMD6	Q96NE9	RASSF8	Homo sapiens	Q8NHQ8	Anti Tag CoIP	33961781
Intra	FRMD6	Q96NE9	MED4	Homo sapiens	Q9NPJ6	Y2H Prey Pooling	25416956
Intra	FRMD6	Q96NE9	MED4	Homo sapiens	Q9NPJ6	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	MED4	Homo sapiens	Q9NPJ6	Y2H Array	25416956
Intra	FRMD6	Q96NE9	DNAJA3	Homo sapiens	Q96EY1-2	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	LZTS2	Homo sapiens	Q9BRK4	Y2H Prey Pooling	25416956
Intra	FRMD6	Q96NE9	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	FRMD6	Q96NE9	MLH1	Homo sapiens	P40692	Y2H Array	29892012
Intra	FRMD6	Q96NE9	MLH1	Homo sapiens	P40692	Y2H Array	31515488
Intra	FRMD6	Q96NE9	JMJD6	Homo sapiens	Q6NYC1	Validated Y2H	25416956
Intra	FRMD6	Q96NE9	JMJD6	Homo sapiens	Q6NYC1	Y2H Array	25416956
Intra	FRMD6	Q96NE9	JMJD6	Homo sapiens	Q6NYC1	Y2H Prey Pooling	25416956
Intra	FRMD6	Q96NE9	EXOC5	Homo sapiens	O00471	Y2H Array	25416956
Intra	FRMD6	Q96NE9	EXOC5	Homo sapiens	O00471	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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-RS05104	FRMD6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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