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ALKBH7 Gene

protein-coding   GIFtS: 44
GCID: GC19P006372

AlkB, Alkylation Repair Homolog 7 (E. Coli)

(Previous name: spermatogenesis associated 11)
(Previous symbol: SPATA11)
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(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
AlkB, Alkylation Repair Homolog 7 (E. Coli)1 2     Spermatogenesis-Associated Protein 112 3
SPATA111 2 3     UNQ60022
ABH72 3 5     Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 7, Mitochondrial2
Spermatogenesis Associated 111 2     Probable Alpha-Ketoglutarate-Dependent Dioxygenase ABH72
Alkylated DNA Repair Protein AlkB Homolog 72 3     Spermatogenesis Cell Proliferation Related Protein2
Spermatogenesis Cell Proliferation-Related Protein2 3     EC 1.14.11.-3

External Ids:    HGNC: 213061   Entrez Gene: 842662   Ensembl: ENSG000001256527   OMIM: 6133055   UniProtKB: Q9BT303   

Export aliases for ALKBH7 gene to outside databases

Previous GC identifers: GC19P006324 GC19P006132


(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 ALKBH7 Gene:
ALKBH7 (alkB, alkylation repair homolog 7 (E. coli)) is a protein-coding gene. GO annotations related to this gene include dioxygenase activity.

UniProtKB/Swiss-Prot: ALKB7_HUMAN, Q9BT30
Function: Probable dioxygenase required to induce programmed necrosis in response to DNA damage caused by
cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of
mitochondrial function that leads to energy depletion and cell death. ALKBH7-mediated necrosis is probably
required to prevent the accumulation of cells with DNA damage. Does not display DNA demethylase activity.
Involved in fatty acid metabolism




(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_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALKBH7 gene promoter:
         AML1a   SREBP-1c   NRSF form 1   MyoD   NRSF form 2   YY1   SREBP-1b   GATA-1   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALKBH7 promoter sequence
   Search Chromatin IP Primers for ALKBH7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALKBH7


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

ALKBH7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALKBH7 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P006372:  view genomic region     (about GC identifiers)

Start:
6,372,444 bp from pter      End:
6,375,261 bp from pter
Size:
2,818 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: ALKB7_HUMAN, Q9BT30 (See protein sequence)
Recommended Name: Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial precursor  
Size: 221 amino acids; 24516 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)
Caution: Was initially reported to localize both in cytoplasm and nucleus (PubMed:17979886). However, it was later
shown it localizes in mitochondrion (PubMed:23666923). The discrepancy is probably due to the use of a fusion
protein with an N-terminal tag in the initial report (PubMed:17979886)
Secondary accessions: B2R4U9 Q53FF3

Explore the universe of human proteins at neXtProt for ALKBH7: NX_Q9BT30

Explore proteomics data for ALKBH7 at MOPED


See ALKBH7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_115682.1  
ENSEMBL proteins: 
 ENSP00000245812   ENSP00000470542   ENSP00000470562  

ALKBH7 Human Recombinant Protein Products:

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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:
ALKB: Alkylation repair homologs

1 InterPro protein domain:
 IPR027450 AlkB-like

Graphical View of Domain Structure for InterPro Entry Q9BT30

ProtoNet protein and cluster: Q9BT30

UniProtKB/Swiss-Prot: ALKB7_HUMAN, Q9BT30
Similarity: Belongs to the alkB family


Find genes that share domains with ALKBH7           About GenesLikeMe


(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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ALKB7_HUMAN, Q9BT30
Function: Probable dioxygenase required to induce programmed necrosis in response to DNA damage caused by
cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of
mitochondrial function that leads to energy depletion and cell death. ALKBH7-mediated necrosis is probably
required to prevent the accumulation of cells with DNA damage. Does not display DNA demethylase activity.
Involved in fatty acid metabolism

     Enzyme Number (IUBMB): EC 1.14.11.-1

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0046872metal ion binding IEA--
GO:0051213dioxygenase activity IEA--
     
Find genes that share ontologies with ALKBH7           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for ALKBH7:
 Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

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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Subcellular locations from UniProtKB/Swiss-Prot
ALKB7_HUMAN, Q9BT30: Mitochondrion matrix
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
extracellular3
mitochondrion2
cytosol1
peroxisome1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005759mitochondrial matrix IDA--

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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 ALKBH7
Interactions:

    Search GeneGlobe Interaction Network for ALKBH7

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for ALKBH7 (Q9BT303 ENSP000002458124) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
RABGGTBP536113I2D: score=5 
HDAC1ENSP000003626494STRING: ENSP00000362649
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006631fatty acid metabolic process ISS--
GO:0006974cellular response to DNA damage stimulus IDA--
GO:0010883regulation of lipid storage ISS--
GO:0070265necrotic cell death ----
GO:1902445regulation of mitochondrial membrane permeability involved in programmed necrotic cell death IMP--

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(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
  Browse compounds at ApexBio 

Browse Tocris compounds for ALKBH7 (ALKB7)



(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 ALKBH7 gene: 
NM_032306.3  

Unigene Cluster for ALKBH7:

AlkB, alkylation repair homolog 7 (E. coli)
Hs.111099  [show with all ESTs]
Unigene Representative Sequence: NM_032306
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000245812(uc002meo.2) ENST00000596657 ENST00000599849
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat ALKBH7

Additional mRNA sequence: 

AF086415.1 AK223336.1 AK311956.1 AY358858.1 AY427650.2 BC004393.1 

6 DOTS entries:

DT.100837956  DT.75173468  DT.92422838  DT.97861638  DT.95213128  DT.100779153 

Selected AceView cDNA sequences (see all 314):

AI241124 BM703027 BQ072365 AI222361 AI242183 AA328111 BE409337 AA435908 
AW511132 AI830315 BP341817 AI247289 AW117474 AI222048 AW510756 BM930939 
AI222066 AY358858 BU624782 AI989813 W74627 BU943467 AI863557 AI221960 

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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ALKBH7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGCCAGGGG
ALKBH7 Expression
About this image

ALKBH7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ALKBH7 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.111099

UniProtKB/Swiss-Prot: ALKB7_HUMAN, Q9BT30
Tissue specificity: Widely expressed, with highest expression in pancreas, followed by spleen, prostate, ovary and
placenta

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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 animals.

Orthologs for ALKBH7 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Alkbh71 , 5 alkB, alkylation repair homolog 7 (E. coli)1, 5 80.54(n)1
81.9(a)1
  17 (29.61 cM)5
664001  NM_025538.31  NP_079814.11 
 569973395 
lizard
(Anolis carolinensis)
Reptilia ALKBH76
alkB, alkylation repair homolog 7 (E. coli)
63(a)
1 ↔ 1
2(76461810-76468893)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.172662 Transcribed sequence with weak similarity to protein more 68.85(n)    141991766 
zebrafish
(Danio rerio)
Actinopterygii alkbh71 alkB, alkylation repair homolog 7 (E. coli) 57.02(n)
57.37(a)
  550272  NM_001017609.1  NP_001017609.1 
fruit fly
(Drosophila melanogaster)
Insecta CG141301 CG14130 59.28(n)
53.89(a)
  39335  NM_140254.2  NP_648511.2 
worm
(Caenorhabditis elegans)
Secernentea CELE_Y46G5A.351 CELE_Y46G5A.35 49.16(n)
43.58(a)
  3564894  NM_001027271.1  NP_001022442.1 


ENSEMBL Gene Tree for ALKBH7 (if available)
TreeFam Gene Tree for ALKBH7 (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 ALKBH7 (see all 120)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1436126341,2
--6370447(+) ATGGCA/GTGAAC 1 -- us2k10--------
rs1114592901,2
C,F--6370515(+) CACTCC/TAGCCT 1 -- us2k12Minor allele frequency- T:0.50WA CSA 4
rs569448041,2
C,F--6370698(+) GTGGAT/CCCAGA 1 -- us2k12Minor allele frequency- C:0.10WA NA 238
rs735638631,2
C--6370832(+) GCAAGG/CATTCG 1 -- us2k11Minor allele frequency- C:0.50WA 2
rs1477051071,2
C--6370847(+) GGGTC-/GGGGGG 1 -- us2k10--------
rs1931229651,2
C--6370850(+) GTCGGA/GGGGGC 1 -- us2k10--------
rs1169128881,2
C,F--6370875(+) TTACAG/ATGTTG 1 -- us2k11Minor allele frequency- A:0.02NA 120
rs81059171,2
C,F--6371025(+) agaggG/AagaAA 1 -- us2k1 tfbs3 trp32Minor allele frequency- A:0.02WA NA 238
rs1855561561,2
--6371030(+) GAGAAA/GATAAT 1 -- us2k10--------
rs81072901,2
C,F,A,H--6371068(+) ggcctA/Gtaatc 1 -- us2k15Minor allele frequency- G:0.38NA WA CSA 13

HapMap Linkage Disequilibrium report for ALKBH7 (6372444 - 6375261 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for ALKBH7:    About this table    
Variant IDTypeSubtypePubMed ID
dgv3699n71CNV Loss21882294
nsv910916CNV Loss21882294
dgv3700n71CNV Loss21882294
nsv910911CNV Loss21882294
dgv3698n71CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ALKBH7
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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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OMIM gene information: 613305    OMIM disorders: --


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Export disorders for ALKBH7 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 ALKBH7 gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with ALKBH7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Human ALKBH7 is required for alkylation and oxidation-induced programmed necrosis. (PubMed id 23666923)1, 2 Fu D....Samson L.D. (amp 2013)
  2. 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)
  3. 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, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
  4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  5. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
  6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  7. Identification of proteins associated with ligand-activated estrogen receptor I+ in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (Proteomics 2011)
  8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  9. Expression and sub-cellular localization of human ABH family molecules. (PubMed id 17979886)2 Tsujikawa K.... Yamamoto H. (J. Cell. Mol. Med. 2007)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(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: 84266 HGNC: 21306 AceView: SPATA11 Ensembl:ENSG00000125652 euGenes: HUgn84266
ECgene: ALKBH7 H-InvDB: ALKBH7

(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 ALKBH7 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 ALKBH7 gene:
Search GeneIP for patents involving ALKBH7

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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