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AARD Gene

protein-coding   GIFtS: 28
GCID: GC08P117951

Alanine And Arginine Rich Domain Containing Protein

(Previous name: chromosome 8 open reading frame 85)
(Previous symbol: C8orf85)
  Search for AARD
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alanine And Arginine Rich Domain Containing Protein1 2
C8orf851 2 3
Alanine And Arginine-Rich Domain-Containing Protein1 2
Chromosome 8 Open Reading Frame 851

External Ids:    HGNC: 338421   Entrez Gene: 4413762   Ensembl: ENSG000002050027   UniProtKB: Q4LEZ33   

Export aliases for AARD gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AARD Gene:
AARD (alanine and arginine rich domain containing protein) is a protein-coding gene.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for AARD
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AARD


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

Entrez Gene cytogenetic band: 8q24.11   Ensembl cytogenetic band:  8q24.11   HGNC cytogenetic band: 8q24.11

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P117951:  view genomic region     (about GC identifiers)

Start:
117,950,438 bp from pter      End:
117,956,726 bp from pter
Size:
6,289 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AARD_HUMAN, Q4LEZ3 (See protein sequence)
Recommended Name: Alanine and arginine-rich domain-containing protein  
Size: 155 amino acids; 17575 Da
Secondary accessions: A5PKU8

Explore the universe of human proteins at neXtProt for AARD: NX_Q4LEZ3

Explore proteomics data for AARD at MOPED


See AARD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001020528.1  
ENSEMBL proteins: 
 ENSP00000367528  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q4LEZ3


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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  --

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AARD
Interactions:

    Search GeneGlobe Interaction Network for AARD

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030324lung development IEA--

Find genes that share ontologies with AARD           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
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Browse Tocris compounds for AARD



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for AARD gene: 
NM_001025357.2  

Unigene Cluster for AARD:

Alanine and arginine rich domain containing protein
Hs.437551  [show with all ESTs]
Unigene Representative Sequence: BC142621
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000378279(uc003yof.3) ENST00000523536
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Additional mRNA sequence: 

AB181519.1 BC140924.1 BC142621.1 

2 DOTS entries:

DT.100016330  DT.40222836 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AARD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
AARD Expression
About this image


AARD expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Endothelium (Cardiovascular System)
         Extraembryonic Angioblasts Extraembryonic Capillary Plexus
 
 Extraembryonic Mesoderm (Extraembryonic Tissues)
         Extraembryonic Angioblasts Extraembryonic Capillary Plexus
 
 Testis (Reproductive System)
AARD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AARD Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.437551
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In Situ
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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for AARD gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Aard1 , 5 alanine and arginine rich domain containing protein1, 5 71.02(n)1
58.82(a)1
  15 (19.55 cM)5
2394351  NM_175503.31  NP_780712.21 
 520401075 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AARD gene
1 SIMAP similar gene for AARD using alignment to 1 protein entry:     AARD_HUMAN:
C8orf85

Find genes that share paralogs with AARD           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AARD (see all 162)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1908237771,2
--117948563(+) CACATA/GGATTT 1 -- us2k10--------
rs13487941,2
C,F,O,A,H--117948841(-) AGAGAA/GTTGCT 1 -- us2k1 trp329Minor allele frequency- G:0.28NS EA NA WA CSA 2560
rs1820665901,2
--117948855(+) TCTTTG/TGGAGA 1 -- us2k10--------
rs1440569831,2
--117948883(+) GTATCC/GCAGTG 1 -- us2k10--------
rs1170963231,2
C,F--117948941(+) CCTTAC/TCAGCT 1 -- us2k11Minor allele frequency- T:0.01NA 120
rs9586371,2
C,F,H--117948986(-) gaggaA/Gactaa 1 -- us2k112Minor allele frequency- G:0.04NS EA NA 1486
rs1464633071,2
--117948991(+) TTCCTC/GAATTG 1 -- us2k10--------
rs1407703741,2
--117949053(+) ATACAA/TAAAAA 1 -- us2k10--------
rs1872184081,2
--117949194(+) GAGTTG/TTGTCT 1 -- us2k10--------
rs1906481391,2
--117949200(+) TGTCTA/GAACTA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for AARD (117950438 - 117956726 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for AARD: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing AARD
DNA2.0 Custom Variant and Variant Library Synthesis for AARD

(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.)
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(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)
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PubMed articles for AARD gene integrated from 10 sources:
(articles sorted by number of sources associating them with AARD)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide searching of rare genetic variants in WTCCC data. (PubMed id 20549515)1 Feng T. and Zhu X. (Hum. Genet. 2010)
  2. 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. (Genome Res. 2004)
  3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 441376 HGNC: 33842 Ensembl:ENSG00000205002 euGenes: HUgn441376 ECgene: AARD
H-InvDB: AARD

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AARD Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AARD gene:
Search GeneIP for patents involving AARD

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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