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ANKRD9 Gene

protein-coding   GIFtS: 44
GCID: GC14M102973

Ankyrin Repeat Domain 9

  See related disease
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
Ankyrin Repeat Domain 91 2
Ankyrin Repeat Domain-Containing Protein 92

External Ids:    HGNC: 200961   Entrez Gene: 1224162   Ensembl: ENSG000001563817   UniProtKB: Q96BM13   

Export aliases for ANKRD9 gene to outside databases

Previous GC identifers: GC14M096788 GC14M100964 GC14M100965 GC14M100966 GC14M102042 GC14M083150


(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 ANKRD9 Gene:
ANKRD9 (ankyrin repeat domain 9) is a protein-coding gene. Diseases associated with ANKRD9 include hiv-1.


(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:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD9 gene promoter:
         Max1   Bach2   NRSF form 1   NRSF form 2   AREB6   S8   CP2   GATA-6   HFH-1   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ANKRD9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD9


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

Entrez Gene cytogenetic band: 14q32.31   Ensembl cytogenetic band:  14q32.31   HGNC cytogenetic band: 14q32.33

ANKRD9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD9 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M102973:  view genomic region     (about GC identifiers)

Start:
102,973,179 bp from pter      End:
102,976,136 bp from pter
Size:
2,958 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: ANKR9_HUMAN, Q96BM1 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 9  
Size: 317 amino acids; 34295 Da
Secondary accessions: A8K753

Explore the universe of human proteins at neXtProt for ANKRD9: NX_Q96BM1

Explore proteomics data for ANKRD9 at MOPED


See ANKRD9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689539.1  
ENSEMBL proteins: 
 ENSP00000454100   ENSP00000286918   ENSP00000453650   ENSP00000453417   ENSP00000454080  

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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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HGNC Gene Families:
ANKRD: Ankyrin repeat domain containing

2 InterPro protein domains:
 IPR002110 Ankyrin_rpt
 IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry Q96BM1

ProtoNet protein and cluster: Q96BM1

1 Blocks protein domain: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: ANKR9_HUMAN, Q96BM1
Similarity: Contains 3 ANK repeats


ANKRD9 for domains           About GeneDecksing


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
ANKRD9 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for ANKRD9:
 Decreased p24 protein expressi 

Animal Models:
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hsa-mir-340-5p (MIRT019583)

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8 qRT-PCR Assays for microRNAs that regulate ANKRD9:
hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-20b hsa-miR-17 hsa-miR-526b*
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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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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
peroxisome1

(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 ANKRD9
Interactions:

    Search GeneGlobe Interaction Network for ANKRD9

(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
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Browse Tocris compounds for ANKRD9 (ANKR9)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ANKRD9 gene: 
NM_152326.2  

Unigene Cluster for ANKRD9:

Ankyrin repeat domain 9
Hs.432945  [show with all ESTs]
Unigene Representative Sequence: BU849491
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000559651(uc001ylx.1) ENST00000286918(uc001ylz.1 uc001yma.1)
ENST00000560748 ENST00000559404 ENST00000557902
miRNA
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hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-20b hsa-miR-17 hsa-miR-526b*
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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Additional mRNA sequence: 

AK291868.1 BC015422.1 BC027479.1 BX161460.1 

8 DOTS entries:

DT.106092  DT.100800750  DT.428935  DT.120764880  DT.100787353  DT.213182  DT.100753760  DT.100787354 

Selected AceView cDNA sequences (see all 159):

BC015422 CR602541 CR609368 BM710553 CA945001 BM783486 BM744484 BM773438 
BM783658 NM_152326 BM923905 AA426655 BM784236 BM783657 BM746003 BE908345 
AA631662 BX161460 BM765495 BM742825 CR616439 BM785043 BM783351 BM765785 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD9 (see all 6)    About this scheme

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b
SP1:                    -     -                                 
SP2:                    -     -                                 
SP3:                    -     -     -     -                     
SP4:                                                            
SP5:                                      -                     


ECgene alternative splicing isoforms for ANKRD9

(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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ANKRD9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGGTGCTGG
ANKRD9 Expression
About this image


ANKRD9 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Adipose (Muscoskeletal System)
         Interscapular Brown Adipose Depot
 
 Stomach (Gastrointestinal Tract)
ANKRD9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ANKRD9 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.432945
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD9

(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 chordates.

Orthologs for ANKRD9 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ankrd91 , 5 ankyrin repeat domain 91, 5 79.64(n)1
85.44(a)1
  12 (60.90 cM)5
742511  NM_175207.41  NP_780416.21 
 1109753535 
chicken
(Gallus gallus)
Aves ANKRD91 ankyrin repeat domain 9 69.93(n)
62.68(a)
  423469  XM_421377.4  XP_421377.3 
lizard
(Anolis carolinensis)
Reptilia ANKRD96
ankyrin repeat domain 9
63(a)
1 ↔ 1
GL343232.1(1714679-1715566)
tropical clawed frog
(Xenopus tropicalis)
Amphibia ankrd91 ankyrin repeat domain 9 60.36(n)
54.91(a)
  100124767  NM_001102746.1  NP_001096216.1 
zebrafish
(Danio rerio)
Actinopterygii CF998063.12   -- 77.07(n)    CF998063.1 


ENSEMBL Gene Tree for ANKRD9 (if available)
TreeFam Gene Tree for ANKRD9 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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 ANKRD9 (see all 82)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1906825301,2
--102972706(+) TGTCAG/TGGGGA 1 -- ds50010--------
rs116267701,2
H--102972854(+) GGCTGA/GCCGCA 1 -- ds50010--------
rs1121327621,2
F--102972924(+) TTATAC/AGCTGT 1 -- ds50012Minor allele frequency- A:0.05CSA WA 120
rs1834376211,2
--102972927(+) TACGCC/TGTCCT 1 -- ds50010--------
rs454888921,2
C,F--102973075(+) GACAGC/TGAGCT 1 -- ds50013Minor allele frequency- T:0.04CSA NA EA 242
rs2017860421,2
--102973239(+) AGTTTC/TGTCCC 1 -- ut310--------
rs116279441,2
H--102973361(+) AGATGC/GCGGTG 2 A G mis1 ese30--------
rs116279801,2
H--102973533(+) GTCCAG/TCAGCA 2 M L mis1 ese30--------
rs1427253311,2
--102973883(+) CGTGCA/GGCCCG 2 P L mis10--------
rs1460614391,2
C--102973900(+) GCGCAA/GCAGCG 2 C syn10--------

HapMap Linkage Disequilibrium report for ANKRD9 (102973179 - 102976136 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for ANKRD9:    About this table    
Variant IDTypeSubtypePubMed ID
dgv1984n71CNV Loss21882294
nsv832880CNV Loss17160897
nsv902255CNV Loss21882294
nsv522878CNV Loss19592680
nsv470671CNV Gain18288195
dgv263n27CNV Gain19166990

Site Specific Mutation Identification with 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.)
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1 disease for ANKRD9:    
About MalaCards
hiv-1


ANKRD9 for disorders           About GeneDecksing

Genetic Association Database (GAD): ANKRD9
Human Genome Epidemiology (HuGE) Navigator: ANKRD9 (1 document)

Export disorders for ANKRD9 gene to outside databases

(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 ANKRD9 gene integrated from 10 sources:
(articles sorted by number of sources associating them with ANKRD9)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
  3. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)4 Gieger C....Soranzo N. (Nature 2011)
  4. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)
  5. Identification of host proteins required for HIV infection through a functional genomic screen. (PubMed id 18187620)1 Brass A.L....Elledge S.J. (Science 2008)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  7. 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)
  8. (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: 122416 HGNC: 20096 AceView: ANKRD9 Ensembl:ENSG00000156381 euGenes: HUgn122416
ECgene: ANKRD9 H-InvDB: ANKRD9

(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 ANKRD9 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 ANKRD9 gene:
Search GeneIP for patents involving ANKRD9

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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