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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FRMD8 Gene

protein-coding GIFtS: 44
GCID: GC11P065154

FERM domain containing 8

Search for FRMD8
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
FERM Domain Containing 8¹ ²
FKSG44¹ ²
FLJ90369¹
FERM Domain-Containing Protein 8²

External Ids:	HGNC: 25462¹	Entrez Gene: 83786²	Ensembl: ENSG00000126391⁷	UniProtKB: Q9BZ67³

Export aliases for FRMD8 gene to outside databases

Previous GC identifers: GC11P064911 GC11P061480

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FRMD8 gene promoter:
RP58 Sp1 Lmo2 HNF-4alpha2 HNF-4alpha1 AREB6 HSF2 SEF-1 (1) Pax-4a ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FRMD8 promoter sequence

Search SABiosciences Chromatin IP Primers for FRMD8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRMD8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13 Ensembl cytogenetic band: 11q13.1 HGNC cytogenetic band: 11q13.1

FRMD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMD8 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P065154: view genomic region (about GC identifiers)

Start:	65,154,041 bp from pter	End:	65,180,996 bp from pter
Size:	26,956 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FRMD8_HUMAN, Q9BZ67 (See protein sequence)

Recommended Name: FERM domain-containing protein 8

Size: 464 amino acids; 51218 Da

Secondary accessions: Q86V56 Q8NCB5

Alternative splicing: 2 isoforms: Q9BZ67-1 Q9BZ67-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FRMD8: NX_Q9BZ67

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BZ67

FRMD8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_114110.1

ENSEMBL proteins:

ENSP00000319726 ENSP00000433479 ENSP00000435913 ENSP00000348270 ENSP00000392111

ENSP00000435991 ENSP00000434274

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	Uscn Proteins for FRMD8

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005856	cytoskeleton	IEA	--

FRMD8 for ontologies About GeneDecksing

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

FRMD8 for domains About GeneDecksing

4 InterPro domains/families:

IPR019748 FERM_central

IPR014352 FERM/acyl-CoA-bd_prot_3-hlx

IPR019749 Band_41_domain

IPR000299 FERM_domain

Graphical View of Domain Structure for InterPro Entry Q9BZ67

ProtoNet protein and cluster: Q9BZ67

UniProtKB/Swiss-Prot: FRMD8_HUMAN, Q9BZ67

Similarity: Contains 1 FERM domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FRMD8
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate FRMD8:
		hsa-miR-3910 hsa-miR-4324 hsa-miR-186* hsa-miR-124 hsa-miR-2355-3p hsa-miR-186 hsa-miR-506 hsa-miR-3714

		SwitchGear 3'UTR luciferase reporter plasmid: FRMD8 3' UTR sequence

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In Situ Assay
Products:

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1 GenomeRNAi human phenotype for FRMD8:

Increased cell number in G2M,

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FRMD8

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for FRMD8 (Q9BZ67³ ENSP00000319726⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IKBKG	Q9Y6K9³, ENSP00000358622⁴	I2D: score=1 STRING: ENSP00000358622
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FRMD8
Search CenterWatch for drugs/clinical trials and news about FRMD8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FRMD8 gene:

NM_031904.3

Unigene Cluster for FRMD8:

FERM domain containing 8

Hs.578433 [show with all ESTs]

Unigene Representative Sequence: NM_031904

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000317568(uc001odu.4 uc009yqj.3 uc010rof.2) ENST00000531296

ENST00000528854 ENST00000533782 ENST00000355991 ENST00000416776 ENST00000526201

ENST00000525156 ENST00000531151

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		8 QIAGEN miScript miRNA Assays for microRNAs that regulate FRMD8:
		hsa-miR-3910 hsa-miR-4324 hsa-miR-186* hsa-miR-124 hsa-miR-2355-3p hsa-miR-186 hsa-miR-506 hsa-miR-3714

		SwitchGear 3'UTR luciferase reporter plasmid: FRMD8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRMD8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRMD8

Additional cDNA sequence:

AF334946.1 AK074850.1 AK291678.1 AK304363.1 BC014498.1 BC033851.1 BC044658.1 BC051695.1

8 DOTS entries:

DT.40246641 DT.100035874 DT.101983291 DT.120760787 DT.120760796 DT.95264787 DT.100035876 DT.100714081

24/74 AceView cDNA sequences (see all 74):

C00641 AI149817 AI148972 BC033851 CR608928 BU198040 BM551925 BX334676

BI546793 CB960009 CA434756 BX110843 BC051695 BM314200 CA442820 T98936

BI559570 AI439741 BX090741 BI562673 CK904969 AW872938 AI338209 AA311352

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FRMD8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACTTATTA

About this image

FRMD8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Endochondral Facial Bones

Bone

Stylopod Long Bone

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FRMD8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FRMD8

SOURCE GeneReport for Unigene cluster: Hs.578433

SABiosciences Custom PCR Arrays for FRMD8

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRMD8

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMD8

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FRMD8 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	FRMD8⁶	--	64(a)	1 ↔ 1	GL343801.1(117176-122632)
African clawed frog (Xenopus laevis)	Amphibia	MGC53754²	hypothetical protein MGC53754	73.6(n)		BC046857.1
zebrafish (Danio rerio)	Actinopterygii	frmd8¹	FERM domain containing 8	59.28(n) 57.17(a)		559410 XM_682750.5 XP_687842.2
fruit fly (Drosophila melanogaster)	Insecta	Bili¹	Band4.1 inhibitor LRP interactor	49.25(n) 40.07(a)		43019 NM_001170251.1 NP_001163722.1
worm (Caenorhabditis elegans)	Secernentea	frm-10⁶	FERM domain (protein4.1-ezrin-radixin-moesin) fami...	18(a)	possible ortholog	V(13463136-13467212)

ENSEMBL Gene Tree for FRMD8 (if available)
TreeFam Gene Tree for FRMD8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FRMD8 gene

KRIT1²

1 SIMAP similar gene for FRMD8 using alignment to 6 protein entries: FRMD8_HUMAN (see all proteins):

FRMD8P1

FRMD8 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for FRMD8
PGOHUM00000241357

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182420562^1,2		--	65152161(+)	`GGCAAG/TGCTGT`	1	--	us2k¹		0	--	--	--	--
rs11601539^1,2	C,F,H,	--	65152253(+)	`atcagA/Cgctca`	1	--	us2k¹		4		NA	128
rs187051866^1,2		--	65152355(+)	`ATTTTG/TGGGTT`	1	--	us2k¹		0	--	--	--	--
rs114424747^1,2	F,	--	65152373(+)	`GATGGC/TGTCTC`	1	--	us2k¹		1		WA	118
rs189539781^1,2		--	65152389(+)	`GTTCCC/GCAGGC`	1	--	us2k¹		0	--	--	--	--
rs182358661^1,2		--	65152419(+)	`TCAGGC/TGATCC`	1	--	us2k¹		0	--	--	--	--
rs188740727^1,2		--	65152762(+)	`TCTGAA/GCTTCC`	1	--	us2k¹		0	--	--	--	--
rs146294643^1,2		--	65153015(+)	`AAGGTA/GCCCCA`	1	--	us2k¹		0	--	--	--	--
rs139263439^1,2		--	65153207(+)	`CTCATA/GTCACT`	1	--	us2k¹		0	--	--	--	--
rs115450581^1,2	F,	--	65153253(+)	`CTGATT/ATAGAC`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for FRMD8 (65154041 - 65180996 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FRMD8
1 CNV: 5423

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FRMD8

DNA2.0 Custom Variant and Variant Library Synthesis for FRMD8

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FRMD8 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with FRMD8)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
Expanding the substantial interactome of NEMO using p rotein microarrays. (PubMed id 20098747)¹ Fenner B.J....Prehn J.H. (2010)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 83786	HGNC: 25462	AceView: FKSG44	Ensembl:ENSG00000126391	euGenes: HUgn83786
ECgene: FRMD8	H-InvDB: FRMD8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FRMD8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FRMD8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FRMD8 gene:
Search GeneIP for patents involving FRMD8

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FRMD8 gene at Home site.

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FRMD8 Gene

FERM domain containing 8

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FRMD8 Gene

FERM domain containing 8

Aliasesfor FRMD8 gene

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Protein Domains /Familiesfor FRMD8 gene

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