Aliases for MXRA8 Gene

Aliases for MXRA8 Gene

  • Matrix Remodeling Associated 8 2 3 5
  • Limitrin 2 3 4
  • Matrix Remodeling-Associated Protein 8 3 4
  • Matrix-Remodelling Associated 8 2 3
  • Matrix-Remodeling-Associated Protein 8 3
  • DKFZp586E2023 2
  • MXRA8 5
  • ASP3 3

External Ids for MXRA8 Gene

Previous GeneCards Identifiers for MXRA8 Gene

  • GC00U990744
  • GC01U901165
  • GC01M001278
  • GC01M000561

Summaries for MXRA8 Gene

GeneCards Summary for MXRA8 Gene

MXRA8 (Matrix Remodeling Associated 8) is a Protein Coding gene. Diseases associated with MXRA8 include Chikungunya and Ross River Fever. An important paralog of this gene is VSIG2.

UniProtKB/Swiss-Prot Summary for MXRA8 Gene

  • Transmembrane protein which can modulate activity of various signaling pathways, probably via binding to integrin ITGAV:ITGB3 (PubMed:22492581, PubMed:23386276). Mediates heterophilic cell-cell interactions in vitro (By similarity). Inhibits osteoclastogenesis downstream of TNFSF11/RANKL and CSF1, where it may function by attenuating signaling via integrin ITGB3 and MAP kinase p38 (By similarity). Plays a role in cartilage formation where it promotes proliferation and maturation of growth plate chondrocytes (By similarity). Stimulates formation of primary cilia in chondrocytes (By similarity). Enhances expression of genes involved in the hedgehog signaling pathway in chondrocytes, including the hedgehog signaling molecule IHH; may also promote signaling via the PTHLH/PTHrP pathway (By similarity). Plays a role in angiogenesis where it suppresses migration of endothelial cells and also promotes their apoptosis (PubMed:23386276). Inhibits VEGF-induced activation of AKT and p38 MAP kinase in endothelial cells (PubMed:23386276). Also inhibits VTN (vitronectin)-mediated integrin ITGAV:ITGB3 signaling and activation of PTK2/FAK (PubMed:23386276). May play a role in the maturation and maintenance of the blood-brain barrier (By similarity).
  • (Microbial infection) Contributes to arthritogenic alphavirus pathogenesis and acts as a receptor for these viruses.

Additional gene information for MXRA8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MXRA8 Gene

Genomics for MXRA8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MXRA8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J001343 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 603.2 +10.6 10554 19.2 ARHGAP35 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 LEF1 SOX13 MXRA8 DVL1 HSALNG0000137 NONHSAG000093.2 ATAD3B SLC35E2A ENSG00000227775 ANKRD65 CCNL2 ENSG00000269737
GH01J001373 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 16.1 -11.6 -11582 3.9 ZNF221 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 AURKAIP1 MN308670 lnc-CCNL2-4 lnc-TAS1R3-3 CDK11A ENSG00000230092 ENSG00000269737 ATAD3B ENSG00000237094 LINC01786
GH01J001304 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +56.7 56718 7.6 CEBPG HNRNPL CREB1 ZBTB33 ATF7 PRDM10 ZNF629 TFE3 LEF1 IKZF1 PUSL1 ACAP3 lnc-INTS11-1 ATAD3B INTS11 ENSG00000240731 LINC00115 SLC35E2A CCNL2 LINC01409
GH01J001745 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.8 -382.4 -382360 3.8 SP1 CREB1 GATAD2A ATF7 PRDM10 SIX5 LEF1 ZNF692 BACH1 JUND LOC112268218 SLC35E2A MXRA8 CALML6 ENSG00000230092 ENSG00000269737 CDK11A CCNL2 SDF4 RER1
GH01J001204 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.8 +156.5 156511 5.3 ARHGAP35 HNRNPL CREB1 PRDM10 ZNF629 JUND ZIC2 PATZ1 ZNF24 EZH2 TNFRSF18 CCNL2 ENSG00000240731 ENSG00000269737 MXRA8 SLC35E2A ENSG00000230092 VWA1 ENSG00000227775 LINC01770
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MXRA8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MXRA8

Top Transcription factor binding sites by QIAGEN in the MXRA8 gene promoter:
  • C/EBPalpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MXRA8 Gene

Genomic Locations for MXRA8 Gene
chr1:1,352,689-1,363,541
(GRCh38/hg38)
Size:
10,853 bases
Orientation:
Minus strand
chr1:1,288,069-1,297,157
(GRCh37/hg19)
Size:
9,089 bases
Orientation:
Minus strand

Genomic View for MXRA8 Gene

Genes around MXRA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MXRA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MXRA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MXRA8 Gene

Proteins for MXRA8 Gene

  • Protein details for MXRA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRK3-MXRA8_HUMAN
    Recommended name:
    Matrix remodeling-associated protein 8
    Protein Accession:
    Q9BRK3
    Secondary Accessions:
    • B3KTR6
    • B4DE34
    • Q5TA39
    • Q96KC3

    Protein attributes for MXRA8 Gene

    Size:
    442 amino acids
    Molecular mass:
    49132 Da
    Quaternary structure:
    • Homodimer in cis (By similarity). Does not appear to form trans-homodimers (By similarity). Interacts with ITGB3; the interaction inhibits ITGAV:ITGB3 heterodimer formation (PubMed:22492581).
    • (Microbial infection) Interacts with chikungunya virus spike glycoprotein E2.

    Three dimensional structures from OCA and Proteopedia for MXRA8 Gene

    Alternative splice isoforms for MXRA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MXRA8 Gene

Post-translational modifications for MXRA8 Gene

  • Glycosylation at Asn119 and Asn306
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MXRA8 Gene

Domains & Families for MXRA8 Gene

Gene Families for MXRA8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MXRA8 Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
ProtoNet:

Suggested Antigen Peptide Sequences for MXRA8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38647 fis, clone HHDPC2006862, highly similar to Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA (B3KTR6_HUMAN)
  • Limitrin (MXRA8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRK3

UniProtKB/Swiss-Prot:

MXRA8_HUMAN :
  • The RGD motif is involved in integrin ITGAV:ITGB3 binding.
Domain:
  • The RGD motif is involved in integrin ITGAV:ITGB3 binding.
genes like me logo Genes that share domains with MXRA8: view

Function for MXRA8 Gene

Molecular function for MXRA8 Gene

UniProtKB/Swiss-Prot Function:
Transmembrane protein which can modulate activity of various signaling pathways, probably via binding to integrin ITGAV:ITGB3 (PubMed:22492581, PubMed:23386276). Mediates heterophilic cell-cell interactions in vitro (By similarity). Inhibits osteoclastogenesis downstream of TNFSF11/RANKL and CSF1, where it may function by attenuating signaling via integrin ITGB3 and MAP kinase p38 (By similarity). Plays a role in cartilage formation where it promotes proliferation and maturation of growth plate chondrocytes (By similarity). Stimulates formation of primary cilia in chondrocytes (By similarity). Enhances expression of genes involved in the hedgehog signaling pathway in chondrocytes, including the hedgehog signaling molecule IHH; may also promote signaling via the PTHLH/PTHrP pathway (By similarity). Plays a role in angiogenesis where it suppresses migration of endothelial cells and also promotes their apoptosis (PubMed:23386276). Inhibits VEGF-induced activation of AKT and p38 MAP kinase in endothelial cells (PubMed:23386276). Also inhibits VTN (vitronectin)-mediated integrin ITGAV:ITGB3 signaling and activation of PTK2/FAK (PubMed:23386276). May play a role in the maturation and maintenance of the blood-brain barrier (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Contributes to arthritogenic alphavirus pathogenesis and acts as a receptor for these viruses.
UniProtKB/Swiss-Prot Induction:
Up-regulated in vein endothelial cells (HUVECs) in response to VEGF signaling.

Phenotypes From GWAS Catalog for MXRA8 Gene

Gene Ontology (GO) - Molecular Function for MXRA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with MXRA8: view
genes like me logo Genes that share phenotypes with MXRA8: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MXRA8

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MXRA8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MXRA8 Gene

Localization for MXRA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MXRA8 Gene

Cell membrane. Single-pass type I membrane protein. Cell junction, tight junction. Cytoplasm. Cell projection, cilium membrane. Nucleus. Note=Primarily localizes to the cell membrane (PubMed:23386276). Detected in the cilium of primary chondrocytes (By similarity). Highly expressed at areas of cell-cell contact and may localize to tight junctions (By similarity). Also found in the nucleus where it is detected in the soluble (as opposed to chromatin-bound) fraction (PubMed:23386276). {ECO:0000250 UniProtKB:Q9DBV4, ECO:0000269 PubMed:23386276}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MXRA8 gene
Compartment Confidence
plasma membrane 4
extracellular 4
nucleus 4
endoplasmic reticulum 4
mitochondrion 2
cytoskeleton 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MXRA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with MXRA8: view

Pathways & Interactions for MXRA8 Gene

PathCards logo

SuperPathways for MXRA8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MXRA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0016032 viral process IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0060857 establishment of glial blood-brain barrier ISS 14603461
genes like me logo Genes that share ontologies with MXRA8: view

No data available for Pathways by source and SIGNOR curated interactions for MXRA8 Gene

Drugs & Compounds for MXRA8 Gene

No Compound Related Data Available

Transcripts for MXRA8 Gene

mRNA/cDNA for MXRA8 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MXRA8

Alternative Splicing Database (ASD) splice patterns (SP) for MXRA8 Gene

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

Relevant External Links for MXRA8 Gene

GeneLoc Exon Structure for
MXRA8

Expression for MXRA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MXRA8 Gene

Protein differential expression in normal tissues from HIPED for MXRA8 Gene

This gene is overexpressed in Urine (55.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MXRA8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MXRA8

SOURCE GeneReport for Unigene cluster for MXRA8 Gene:

Hs.515687

mRNA Expression by UniProt/SwissProt for MXRA8 Gene:

Q9BRK3-MXRA8_HUMAN
Tissue specificity: Detected in endothelial cells in mammary tissue, in both large vessels (left internal mammary artery) and small capillaries (vasa vasorum of the adventitia).

Evidence on tissue expression from TISSUES for MXRA8 Gene

  • Nervous system(4.9)
  • Eye(4.6)
  • Pancreas(4.4)
  • Skin(3.9)
  • Kidney(3.6)
  • Intestine(2.9)
  • Muscle(2.4)
  • Lung(2.3)
  • Heart(2.2)
  • Gall bladder(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with MXRA8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MXRA8 Gene

Orthologs for MXRA8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MXRA8 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia MXRA8 30 31
  • 84.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MXRA8 30 31
  • 84.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mxra8 30 17 31
  • 78.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mxra8 30
  • 77.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia MXRA8 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MXRA8 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MXRA8 30 31
  • 64.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MXRA8 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mxra8 30
  • 57.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii mxra8a 30 31
  • 56.5 (n)
OneToMany
mxra8b 31
  • 42 (a)
OneToMany
Species where no ortholog for MXRA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MXRA8 Gene

ENSEMBL:
Gene Tree for MXRA8 (if available)
TreeFam:
Gene Tree for MXRA8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MXRA8: view image

Paralogs for MXRA8 Gene

genes like me logo Genes that share paralogs with MXRA8: view

Variants for MXRA8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MXRA8 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs374879755 Likely Pathogenic: Abnormality of brain morphology 1,353,913(-) A/T MISSENSE_VARIANT
rs150058708 - p.Asp396Asn

Additional dbSNP identifiers (rs#s) for MXRA8 Gene

Structural Variations from Database of Genomic Variants (DGV) for MXRA8 Gene

Variant ID Type Subtype PubMed ID
dgv27n54 CNV gain 21841781
dgv28n54 CNV gain 21841781
dgv2n67 CNV gain 20364138
dgv30n54 CNV gain 21841781
dgv33n54 CNV loss 21841781
dgv6n100 CNV gain+loss 25217958
dgv7n100 CNV loss 25217958
esv2758912 CNV loss 17122850
esv3890636 CNV loss 25118596
nsv1000169 CNV gain 25217958
nsv1009541 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1074030 CNV deletion 25765185
nsv1136054 CNV deletion 24896259
nsv1160788 CNV deletion 26073780
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv544969 CNV loss 21841781
nsv544991 CNV loss 21841781
nsv544996 CNV gain 21841781
nsv950452 CNV deletion 24416366
nsv997291 CNV gain 25217958

Variation tolerance for MXRA8 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MXRA8 Gene

Human Gene Mutation Database (HGMD)
MXRA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MXRA8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MXRA8 Gene

Disorders for MXRA8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MXRA8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chikungunya
  • chikungunya fever
ross river fever
  • ross river virus disease
necatoriasis
ancylostomiasis
  • ancylostoma duodenale infection
leukodystrophy, hypomyelinating, 4
  • hld4
- elite association - COSMIC cancer census association via MalaCards
Search MXRA8 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MXRA8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MXRA8 Gene

Publications for MXRA8 Gene

  1. Limitrin, a novel immunoglobulin superfamily protein localized to glia limitans formed by astrocyte endfeet. (PMID: 14603461) Yonezawa T … Ninomiya Y (Glia 2003) 2 3 4
  2. DICAM inhibits angiogenesis via suppression of AKT and p38 MAP kinase signalling. (PMID: 23386276) Han SW … Choi JY (Cardiovascular research 2013) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Cryo-EM Structure of Chikungunya Virus in Complex with the Mxra8 Receptor. (PMID: 31080061) Basore K … Fremont DH (Cell 2019) 3

Products for MXRA8 Gene

Sources for MXRA8 Gene