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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MXRA8 Gene

protein-coding GIFtS: 40
GCID: GC01M001278

matrix-remodelling associated 8

Search for MXRA8
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
Matrix-Remodelling Associated 8¹ ²
DKFZp586E2023¹
Limitrin³
Matrix-Remodeling-Associated Protein 8²
Limitrin³

External Ids:	HGNC: 7542¹	Entrez Gene: 54587²	Ensembl: ENSG00000162576⁷	UniProtKB: Q9BRK3³

Export aliases for MXRA8 gene to outside databases

Previous GC identifers: GC00U990744 GC01U901165 GC01M000561

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

UniProtKB/Swiss-Prot: MXRA8_HUMAN, Q9BRK3

Function: May play a role in the maturation and maintenance of blood-brain barrier (By similarity)

(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_000001.10 NC_018912.1 NT_004350.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MXRA8 gene promoter:
PPAR-gamma1 PPAR-gamma2 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MXRA8 promoter sequence

Search SABiosciences Chromatin IP Primers for MXRA8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MXRA8

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

Entrez Gene cytogenetic band: 1p36.33 Ensembl cytogenetic band: 1p36.33 HGNC cytogenetic band: 1p36.33

MXRA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MXRA8 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M001278: view genomic region (about GC identifiers)

Start:	1,288,069 bp from pter	End:	1,297,157 bp from pter
Size:	9,089 bases	Orientation:	minus 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: MXRA8_HUMAN, Q9BRK3 (See protein sequence)

Recommended Name: Matrix-remodeling-associated protein 8 precursor

Size: 442 amino acids; 49132 Da

Subcellular location: Membrane; Single-pass type I membrane protein

Secondary accessions: Q5TA39 Q96KC3

Alternative splicing: 2 isoforms: Q9BRK3-1 Q9BRK3-2

Explore the universe of human proteins at neXtProt for MXRA8: NX_Q9BRK3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BRK3

MXRA8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_115724.1

ENSEMBL proteins:

ENSP00000307887 ENSP00000399229 ENSP00000436135 ENSP00000344998

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	Uscn Proteins for MXRA8

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:0016021	integral to membrane	IEA	--

MXRA8 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

MXRA8 for domains About GeneDecksing

4 InterPro domains/families:

IPR007110 Ig-like_dom

IPR003599 Ig_sub

IPR013783 Ig-like_fold

IPR013106 Ig_V-set

Graphical View of Domain Structure for InterPro Entry Q9BRK3

ProtoNet protein and cluster: Q9BRK3

1 Blocks protein family: IPB013106 Immunoglobulin V-set

UniProtKB/Swiss-Prot: MXRA8_HUMAN, Q9BRK3

Similarity: Contains 2 Ig-like V-type (immunoglobulin-like) domains

(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

Function Summary:

UniProtKB/Swiss-Prot: MXRA8_HUMAN, Q9BRK3

Function: May play a role in the maturation and maintenance of blood-brain barrier (By similarity)

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MXRA8

(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 MXRA8

2 Interacting proteins for MXRA8 (Q9BRK3³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC2A4	P14672³	I2D: score=1
WNK1	Q9H4A3³	I2D: score=1

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 MXRA8
Search CenterWatch for drugs/clinical trials and news about MXRA8

(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 MXRA8 gene:

NM_032348.2

Unigene Cluster for MXRA8:

Matrix-remodelling associated 8

Hs.515687 [show with all ESTs]

Unigene Representative Sequence: AK095966

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

ENST00000474033 ENST00000309212(uc001aew.3 uc001aey.4 uc001aez.3)

ENST00000445648(uc001aex.4) ENST00000477278(uc001afa.3) ENST00000473097

ENST00000478517 ENST00000476718 ENST00000464351 ENST00000460473 ENST00000342753

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		hsa-miR-125a-5p hsa-miR-125b hsa-miR-548c-3p hsa-miR-3157-5p hsa-miR-766 hsa-miR-4319
		SwitchGear 3'UTR luciferase reporter plasmid: MXRA8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MXRA8

Additional cDNA sequence:

AB052096.1 AK027269.1 AK095966.1 AK225028.1 AK293442.1 AK304615.1 AK315510.1 AL050202.1

AY358391.1 BC006213.2 BC017312.2

14 DOTS entries:

DT.101983679 DT.95223113 DT.444857 DT.121333040 DT.97846475 DT.100786102 DT.100060876 DT.121333029

DT.121333042 DT.92332531 DT.95284120 DT.121333054 DT.95268902 DT.95351662

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for MXRA8 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b
SP1:
SP2:
SP3:																							-		-
SP4:
SP5:

ECgene alternative splicing isoforms for MXRA8

(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

MXRA8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGGACTCCA

About this image

MXRA8 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Thoracic Rib

Bone

Heart

Atrioventricular Valves

Heart

Semilunar Valves

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

See MXRA8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MXRA8

SOURCE GeneReport for Unigene cluster: Hs.515687

SABiosciences Custom PCR Arrays for MXRA8

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In Situ
Assay Products:

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(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 chordates.

Orthologs for MXRA8 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mxra8^{1 , 5}	matrix-remodelling associated 8^{1, 5}	78.08(n)¹ 78.46(a)¹		4 (87.58 cM)⁵ 74761¹ NM_024263.4¹ NP_077225.4¹ 155839680⁵
chicken (Gallus gallus)	Aves	MXRA8¹	matrix-remodelling associated 8	64.34(n) 61.4(a)		395347 NM_204636.1 NP_989967.1
lizard (Anolis carolinensis)	Reptilia	MXRA8⁶	--	55(a)	1 ↔ 1	GL343701.1(1897-23970)
zebrafish (Danio rerio)	Actinopterygii	mxra8a¹	matrix-remodelling associated 8a	54.9(n) 49.29(a)		562784 NM_001080582.1 NP_001074051.1

ENSEMBL Gene Tree for MXRA8 (if available)
TreeFam Gene Tree for MXRA8 (if available)

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

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181712123^1,2		--	1287588(+)	`CTGCAC/GCCAAC`	1	--	int¹		0	--	--	--	--
rs140688425^1,2		--	1287635(+)	`GATCCA/GTGCTG`	1	--	int¹		0	--	--	--	--
rs145678879^1,2		--	1287732(+)	`GACCCA/GCATCC`	1	--	int¹		0	--	--	--	--
rs186076320^1,2		--	1287748(+)	`CTCCCA/GCTCCT`	1	--	int¹		0	--	--	--	--
rs138337614^1,2		--	1287755(+)	`TCCTCA/GTCCCT`	1	--	int¹		0	--	--	--	--
rs190450833^1,2		--	1287896(+)	`ACTAGC/GTCAAA`	1	--	int¹		0	--	--	--	--
rs3766185^1,2	C,	--	1287922(-)	`GGAGTT/CGGTGT`	1	--	int¹		9		EA NA WA CSA	1508
rs143240591^1,2		--	1287964(+)	`AGGAAC/TGGGAT`	1	--	int¹		0	--	--	--	--
rs148049883^1,2		--	1287973(+)	`ATGATA/GTCAGG`	1	--	int¹		0	--	--	--	--
rs35481025^1,2	F,	--	1288042(-)	`AAACTC/TCGTCT`	1	--	int¹		2		NA CSA	6

HapMap Linkage Disequilibrium report for MXRA8 (1288069 - 1297157 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for MXRA8
3 CNVs: 0001 3275 30362

SABiosciences Cancer Mutation PCR Assays

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(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 MXRA8 gene integrated from 9 sources:
(articles sorted by number of sources associating them with MXRA8)

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

Limitrin, a novel immunoglobulin superfamily protein localized to glia limitans formed by astrocyte endfeet. (PubMed id 14603461)^{1, 2, 3} Yonezawa T.... Ninomiya Y. (2003)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The BTB and CNC homology 1 (BACH1) target genes are i nvolved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)¹ Warnatz H.J....Yaspo M.L. (2011)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)¹ Clark H.F.... Gray A.M. (2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)¹ Maruyama K. and Sugano S. (1994)

(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: 54587	HGNC: 7542	Ensembl:ENSG00000162576	euGenes: HUgn54587	ECgene: MXRA8
H-InvDB: MXRA8

(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 MXRA8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MXRA8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MXRA8 gene:
Search GeneIP for patents involving MXRA8

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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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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

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

Hot genes Disease genes MXRA8 gene at Home site.

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MXRA8 Gene

matrix-remodelling associated 8

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MXRA8 Gene

matrix-remodelling associated 8

Aliasesfor MXRA8 gene

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for MXRA8 gene

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for MXRA8 gene

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for MXRA8 gene

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for MXRA8 gene

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