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FRMD7 Gene

protein-coding GIFtS: 50

GC0XM131038

FERM domain containing 7
(Previous names: nystagmus 1, congenital )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: NYS, NYS1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
FLJ43346 ^¹, ²
NYS ^²
NYS1 ^²
OTTHUMP00000062485 ^²

Descriptions
FERM domain containing 7 ^²
nystagmus 1, congenital ^¹

External Ids
HGNC: 8079¹
Entrez Gene: 90167²
UniProtKB: Q6ZUT3³
Ensembl: ENSG00000165694⁷

Search outside databases for aliases for FRMD7 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for FRMD7:

Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq]

UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3

Function: May play a specific role in the control of eye movement and gaze stability

Gene Wiki entry for FRMD7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq26-q27 Ensembl cytogenetic band: Xq26.2 HGNC cytogenetic band: Xq26.2

FRMD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM131038: (about GC identifiers)

Start:	131,038,702 bp from pter
End:	131,089,731 bp from pter
Size:	51,030 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011786.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3 (See protein sequence)

Recommended Name: FERM domain-containing protein 7

Size: 714 amino acids; 81614 Da

Developmental stage: In 37 days post-ovulation (dpo) embryos, expression is restricted to the mid-

and hindbrain, regions known to be involved in motor control of eye movement. In 56 dpo, it is

expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord

and the developing neural retina

Secondary accessions: Q5JX99

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_919253.1

ENSEMBL proteins:

ENSP00000359916 ENSP00000298542

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18029348
GO:0005730	NOT nucleolus	IDA	18029348
GO:0005737	cytoplasm	IDA	18029348
GO:0005856	cytoskeleton	IEA	--
GO:0005886	plasma membrane	IDA	18029348

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Antibodies for FRMD7:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for FRMD7
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for FRMD7

Assays for FRMD7:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q6ZUT3

ProtoNet protein and cluster: Q6ZUT3

1 Blocks protein family: IPB000299 Band 4.1 domain

UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3

Similarity: Contains 1 FERM domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FRMD7)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_194277

Applied Biosystems Silencer® siRNAs for FRMD7

Sigma-Aldrich siRNA for FRMD7

Sigma-Aldrich shRNA for FRMD7

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_194277
Myc/DDK tagged cDNA clone in CMV expression vector: NM_194277
untagged cDNA clone in CMV expression vector: NM_194277

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_194277

UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3

Function: May play a specific role in the control of eye movement and gaze stability

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005488	binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Interacting protein for FRMD7 (ENSP00000298542³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC25A14	ENSP00000342797³	STRING (score=.777)

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FRMD7

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FRMD7)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_194277

Sigma-Aldrich siRNA for FRMD7

Sigma-Aldrich shRNA for FRMD7

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_194277

REFSEQ mRNAs for FRMD7 gene:

NM_194277.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_194277

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_194277
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_194277
                                 untagged cDNA clone in CMV expression vector: NM_194277

Additional cDNA sequence:

AK125336.1 AL161984.1 BC114371.1 FJ717411.1

2 DOTS entries:

DT.70103470 DT.121295811

7 AceView cDNA sequences:

AK125336 AL161984 NM_194277 AI478353 AI492387 BG428306 AI767020

highest scoring ESTs for FRMD7:

AI492387 AK125336 AI478353 AI767020 BG428306 NM_194277 AL161984 BC114371 DA726632 DB324396

Unigene Cluster for FRMD7:

FERM domain containing 7

Hs.170776 [show with all ESTs]

Unigene Representative Sequence: NM_194277

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000370879 ENST00000298542

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

FRMD7 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FRMD7

¹ / ² / ³

3 probe-sets matching FRMD7 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
82912_at²^{, 3}	U95-D	1	1.00	1.00	1.00	1.00	AI492387	0.80	1.00	0.91	1
233047_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AL161984	0.40	1.00	0.76	1
233047_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks FRMD7 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TATGCAGGCC

SOURCE GeneReport for Unigene cluster: Hs.170776
UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3
Tissue specificity: Expressed liver, kidney, pancreas and at low level in brain and heart.
Expressed in embryonic brain and developing neural retina

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for FRMD7 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FRMD7¹	--	FERM domain containing 7	88.45(n) 87.27(a)	492141 XM_549262.2 XP_549262.2
rat (Rattus norvegicus)	Frmd7¹	--	FERM domain containing 7	87.43(n) 86.4(a)	302826 XM_229144.4 XP_229144.4
mouse (Mus musculus)	Frmd7⁵	X	FERM domain containing 7	--	BC147258
chicken (Gallus gallus)	FRMD7¹	--	FERM domain containing 7	66.23(n) 68.41(a)	428710 XM_426268.2 XP_426268.2
zebrafish (Danio rerio)	Dr.19490²	--	Transcribed sequence with weak similarity to protein more	73.37(n)	AL910586.1

About this table Species with no ortholog for FRMD7

ENSEMBL Gene Tree for FRMD7

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for FRMD7 gene

FARP2² FARP1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/171 NCBI SNPs in FRMD7 are shown (see all 171 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 52)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs3764771^1,2	A,C,F,H	131038916(-)	`AAACCA/TGATGA`	1	--	ut3¹ ese³		8		EU EA WA	626
--	rs5933084^1,2	A,C,F,H	131090284(+)	`CTTCAC/GTTCCA`	1	--	ng3¹		4		EU EA WA	386
	rs2747024^1,2	C,F,H,O	131091575(+)	`TCGACC/AGTCAC`	1	--	ng3¹ tfbs³		11		EU EA WA NA	736
--	rs5975316^1,2	C,F,H	131089991(+)	`TACTAG/AAAATT`	1	--	ng3¹		7		EU EA WA NA	523
	rs5977625^1,2	C,F,H	131044135(+)	`CTTCCG/AAAAGC`	1	L/S	mis¹ ese³		11		EU EA WA NA	768
	rs6637934^1,2	C,F,H	131040323(+)	`CTGGAC/TGCACT`	1	R/H	mis¹ ese³		11		EU EA WA NA	876
--	rs7055463^1,2	A	131090080(+)	`atatcC/Tatata`	1	--	ng3¹		0	--	--	--	--
	rs5977623^1,2	A,C,F,H	131040193(+)	`GCTCTA/GATTGG`	1	I/I	syn¹ ese³		7		EU EA WA NA	556
	rs7051368^1,2	C,F,H	131040625(+)	`ACTCCA/GTTCAC`	1	N/N	syn¹ ese³		4		EU EA WA	420
	rs5930546^1,2	C,F,H	131062414(+)	`TTCCCG/AGATGA`	1	S/S	syn¹ ese³		11		EU EA WA NA	766

About this table

HapMap Linkage Disequilibrium images for FRMD7 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300628 disorders: 310700

UniProtKB/Swiss-Prot: FRMD7_HUMAN, Q6ZUT3

Defects in FRMD7 are the cause of X-linked congenital nystagmus 1 (NYS1) [MIM:310700].

NYS1 is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes

GeneTests: FRMD7

FRMD7-Related Infantile Nystagmus

Human Gene Mutation Database: FRMD7
Human Genome Epidemiology Navigator: FRMD7 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/20 PubMed articles for FRMD7 gene (see all 20 ):

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. (PubMed id 17013395)^{2, 3, 4} Tarpey P....Gottlob I. (2006)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{3, 4} Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. (PubMed id 2063919)^{2, 3} Gutmann D.H....Zackai E.H. (1991)
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. (PubMed id 19072571)³ He X....Ma X. (2008)
[The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus] (PubMed id 18247295)³ Li N.D....Zhao K.X. (2008)
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. (PubMed id 18372314)³ Thomas S....Gottlob I. (2008)
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. (PubMed id 18431453)³ Li N....Zhao K. (2008)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)³ Barbe L....Andersson-Svahn H. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 90167	HGNC: 8079	AceView: LOC90167	Ensembl:ENSG00000165694	euGenes: HUgn90167
ECgene: FRMD7	H-InvDB: FRMD7

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Licensable Technologies for FRMD7
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for FRMD7:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for FRMD7-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for FRMD7		Antibodies for FRMD7
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FRMD7 Gene

protein-coding GIFtS: 50

Aliases &
Descriptions
for FRMD7

Summaries
for FRMD7

Genomic Location
for FRMD7

Proteins
for FRMD7

Protein Domains/
Families
for FRMD7

Gene Function
for FRMD7

Pathways & Interactions
for FRMD7

Drugs & Compounds
for FRMD7

Transcripts
for FRMD7

Expression
for FRMD7

Orthologs
for FRMD7

Paralogs
for FRMD7

SNPs/Variants
for FRMD7

Disorders & Mutations
for FRMD7

Medical News
for FRMD7

Publications
for FRMD7

Search for FRMD7

Genome Databases showing FRMD7

Other Databases showing FRMD7

Specialized Databases showing FRMD7

Licensable Technologies
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Services
for FRMD7

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FRMD7 Gene

protein-coding GIFtS: 50

Aliases & Descriptionsfor FRMD7

Summariesfor FRMD7

Genomic Locationfor FRMD7

Proteinsfor FRMD7

Protein Domains/Familiesfor FRMD7

Gene Functionfor FRMD7

Pathways & Interactionsfor FRMD7

Drugs & Compoundsfor FRMD7

Transcriptsfor FRMD7

Expression for FRMD7

Orthologsfor FRMD7

Paralogsfor FRMD7

SNPs/Variantsfor FRMD7

Disorders & Mutationsfor FRMD7

Medical Newsfor FRMD7

Publicationsfor FRMD7

Search for FRMD7

Genome Databases showing FRMD7

Other Databases showing FRMD7

Specialized Databases showing FRMD7

Licensable Technologiesfor FRMD7

Servicesfor FRMD7

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for FRMD7

Summaries
for FRMD7

Genomic Location
for FRMD7

Proteins
for FRMD7

Protein Domains/
Families
for FRMD7

Gene Function
for FRMD7

Pathways & Interactions
for FRMD7

Drugs & Compounds
for FRMD7

Transcripts
for FRMD7

Expression
for FRMD7

Orthologs
for FRMD7

Paralogs
for FRMD7

SNPs/Variants
for FRMD7

Disorders & Mutations
for FRMD7

Medical News
for FRMD7

Publications
for FRMD7

Licensable Technologies
for FRMD7

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