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Aliases for SPAG9 Gene

Aliases for SPAG9 Gene

  • Sperm Associated Antigen 9 2 3 5
  • Cancer/Testis Antigen 89 2 3 4
  • Sperm Surface Protein 2 3 4
  • C-Jun NH2-Terminal Kinase-Associated Leucine Zipper Protein 2 3
  • Mitogen-Activated Protein Kinase 8-Interacting Protein 4 3 4
  • JNK-Associated Leucine-Zipper Protein 2 4
  • Human Lung Cancer Oncogene 6 Protein 3 4
  • Protein Highly Expressed In Testis 3 4
  • Proliferation-Inducing Gene 6 2 3
  • JNK/SAPK-Associated Protein 2 3
  • JNK Interacting Protein 2 3
  • Lung Cancer Oncogene 4 2 3
  • Sunday Driver 1 3 4
  • HLC-6 3 4
  • JIP-4 3 4
  • CT89 3 4
  • PHET 3 4
  • JLP 3 4
  • C-Jun-Amino-Terminal Kinase-Interacting Protein 4 3
  • Sperm Associated Antigen 9 Variant 5 3
  • Proliferation-Inducing Protein 6 4
  • Sperm-Associated Antigen 9 4
  • JNK-Interacting Protein 4 4
  • Sperm Specific Protein 2
  • Sperm-Specific Protein 4
  • MAX-Binding Protein 3
  • Max-Binding Protein 2
  • HLC-4 Protein 2
  • KIAA0516 4
  • MAPK8IP4 4
  • PIG6 3
  • HLC4 3
  • HLC6 3
  • JIP4 3
  • SYD1 4
  • HSS 4

External Ids for SPAG9 Gene

Previous GeneCards Identifiers for SPAG9 Gene

  • GC17M048755
  • GC17M051523
  • GC17M049383
  • GC17M049515
  • GC17M046397
  • GC17M049039
  • GC17M044409

Summaries for SPAG9 Gene

Entrez Gene Summary for SPAG9 Gene

  • This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

GeneCards Summary for SPAG9 Gene

SPAG9 (Sperm Associated Antigen 9) is a Protein Coding gene. Diseases associated with SPAG9 include Dyskinesia Of Esophagus and Cardiomyopathy, Hypertrophic, 2. Among its related pathways are Arf6 trafficking events and CDO in myogenesis. GO annotations related to this gene include kinesin binding and MAP-kinase scaffold activity. An important paralog of this gene is MAPK8IP3.

UniProtKB/Swiss-Prot for SPAG9 Gene

  • The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Isoform 5 may play a role in spermatozoa-egg-interaction.

Gene Wiki entry for SPAG9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPAG9 Gene

Genomics for SPAG9 Gene

Regulatory Elements for SPAG9 Gene

Enhancers for SPAG9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G051152 1.2 ENCODE 13 -32.8 -32814 2.9 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 NME1 CACNA1G-AS1 SPAG9 NME2 COL1A1 UTP18 NME1-NME2
GH17G051084 1 Ensembl ENCODE 11.8 +35.0 34985 2.0 PKNOX1 NFIB JUN BMI1 ZNF121 CTBP1 GATA3 GATA2 FOSL2 ZNF600 ENSG00000249870 SPAG9 NME1 NME1-NME2 NME2
GH17G051001 0.9 ENCODE dbSUPER 11.8 +119.6 119621 0.2 CTCF ZNF654 SAP130 TRIM22 ARID4B REST CEBPG ATF2 RAD21 KAT8 SPAG9 WFIKKN2 ENSG00000249870 ENSG00000247011
GH17G051131 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.5 -12.0 -11991 2.2 PKNOX1 FOXA2 YBX1 THRB GATA2 ZNF207 ETV6 FOS RELB CREM NME1 SPAG9 NME1-NME2
GH17G050633 1.7 FANTOM5 ENCODE dbSUPER 6.1 +481.9 481914 10.1 PKNOX1 FOXA2 MLX CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ABCC3 CHAD MYCBPAP ENSG00000249451 CACNA1G CACNA1G-AS1 SPATA20 LOC105371824 EPN3 ANKRD40
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPAG9 on UCSC Golden Path with GeneCards custom track

Promoters for SPAG9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095792 265 3201 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D

Genomic Location for SPAG9 Gene

Chromosome:
17
Start:
50,962,174 bp from pter
End:
51,120,865 bp from pter
Size:
158,692 bases
Orientation:
Minus strand

Genomic View for SPAG9 Gene

Genes around SPAG9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAG9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAG9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAG9 Gene

Proteins for SPAG9 Gene

  • Protein details for SPAG9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60271-JIP4_HUMAN
    Recommended name:
    C-Jun-amino-terminal kinase-interacting protein 4
    Protein Accession:
    O60271
    Secondary Accessions:
    • A6H8U5
    • A8MSX0
    • B4DHH2
    • O60905
    • Q3KQU8
    • Q3MKM7
    • Q86WC7
    • Q86WC8
    • Q8IZX7
    • Q96II0
    • Q9H811

    Protein attributes for SPAG9 Gene

    Size:
    1321 amino acids
    Molecular mass:
    146205 Da
    Quaternary structure:
    • Homodimer. The homodimer interacts with ARF6, forming a heterotetramer. Homooligomer. Interacts with MAX, MAPK8, MAPK9, MAPK10, MAPK14, MAP3K3, MYC, KNS2 and MAP2K4. Interaction with KNS2 is important in the formation of ternary complex with MAPK8. Interacts with NFKB1.
    SequenceCaution:
    • Sequence=AAH07524.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAH59946.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI06049.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAO66462.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25442.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14812.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAA62987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPAG9 Gene

    Alternative splice isoforms for SPAG9 Gene

neXtProt entry for SPAG9 Gene

Post-translational modifications for SPAG9 Gene

No data available for DME Specific Peptides for SPAG9 Gene

Domains & Families for SPAG9 Gene

Graphical View of Domain Structure for InterPro Entry

O60271

UniProtKB/Swiss-Prot:

JIP4_HUMAN :
  • Belongs to the JIP scaffold family.
Family:
  • Belongs to the JIP scaffold family.
genes like me logo Genes that share domains with SPAG9: view

No data available for Gene Families for SPAG9 Gene

Function for SPAG9 Gene

Molecular function for SPAG9 Gene

UniProtKB/Swiss-Prot Function:
The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Isoform 5 may play a role in spermatozoa-egg-interaction.
UniProtKB/Swiss-Prot Induction:
Isoform 3 is increased in systemic sclerosis fibroblasts.

Gene Ontology (GO) - Molecular Function for SPAG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005078 MAP-kinase scaffold activity IBA --
GO:0005515 protein binding IPI 19644450
GO:0008432 JUN kinase binding IBA --
GO:0019894 kinesin binding IBA --
GO:0030159 receptor signaling complex scaffold activity IBA --
genes like me logo Genes that share ontologies with SPAG9: view
genes like me logo Genes that share phenotypes with SPAG9: view

Animal Models for SPAG9 Gene

MGI Knock Outs for SPAG9:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPAG9 Gene

Localization for SPAG9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAG9 Gene

Cytoplasm. Cytoplasm, perinuclear region. Note=Perinuclear distribution in response to stress signals such as UV radiation.
Isoform 5: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Associated with the plasma membrane of the acrosomal compartment and also localizes in the acrosome matrix.

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 SPAG9 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
plasma membrane 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for SPAG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IDA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPAG9: view

Pathways & Interactions for SPAG9 Gene

genes like me logo Genes that share pathways with SPAG9: view

Pathways by source for SPAG9 Gene

1 Cell Signaling Technology pathway for SPAG9 Gene
1 BioSystems pathway for SPAG9 Gene
3 Reactome pathways for SPAG9 Gene
1 Qiagen pathway for SPAG9 Gene

SIGNOR curated interactions for SPAG9 Gene

Activates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for SPAG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007257 activation of JUN kinase activity IBA --
GO:0007283 spermatogenesis TAS 9480848
GO:0030335 positive regulation of cell migration IMP 18826971
GO:0042147 retrograde transport, endosome to Golgi IDA 19056739
GO:0043410 positive regulation of MAPK cascade IEA --
genes like me logo Genes that share ontologies with SPAG9: view

Drugs & Compounds for SPAG9 Gene

(4) Drugs for SPAG9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SPAG9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPAG9: view

Transcripts for SPAG9 Gene

Unigene Clusters for SPAG9 Gene

Sperm associated antigen 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPAG9 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - -
SP6: - - - - - - - - - - - -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 17b ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b · 22c · 22d ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b ·
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 32c · 32d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for SPAG9 Gene

GeneLoc Exon Structure for
SPAG9
ECgene alternative splicing isoforms for
SPAG9

Expression for SPAG9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPAG9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPAG9 Gene

This gene is overexpressed in Heart (30.6), Peripheral blood mononuclear cells (6.5), and Bone marrow stromal cell (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPAG9 Gene



Protein tissue co-expression partners for SPAG9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPAG9 Gene:

SPAG9

SOURCE GeneReport for Unigene cluster for SPAG9 Gene:

Hs.463439

mRNA Expression by UniProt/SwissProt for SPAG9 Gene:

O60271-JIP4_HUMAN
Tissue specificity: Isoform 5 is expressed only in testis on the round spermatids of stage I, II and II. Isoform 5 is absent in spermatogonia and spermatocyte. Isoform 3 is expressed in testis. Isoform 4 is expressed in testis and in acute myeloid leukemia (AML) patients.

Evidence on tissue expression from TISSUES for SPAG9 Gene

  • Nervous system(5)
  • Kidney(4.4)
  • Eye(4.3)
  • Liver(4.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with SPAG9: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPAG9 Gene

Orthologs for SPAG9 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPAG9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAG9 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia SPAG9 34 35
  • 94 (n)
cow
(Bos Taurus)
Mammalia SPAG9 34 35
  • 92.48 (n)
oppossum
(Monodelphis domestica)
Mammalia SPAG9 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spag9 34 16 35
  • 90.67 (n)
rat
(Rattus norvegicus)
Mammalia Spag9 34
  • 89.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPAG9 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPAG9 34 35
  • 82.13 (n)
lizard
(Anolis carolinensis)
Reptilia SPAG9 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spag9 34
  • 67.98 (n)
Str.1719 34
zebrafish
(Danio rerio)
Actinopterygii LOC100333761 34
  • 65.76 (n)
CABZ01073118.1 35
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005042 34
  • 52.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta syd 34
  • 52.03 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-16 34
  • 53.91 (n)
Species where no ortholog for SPAG9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 squirt (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)

Evolution for SPAG9 Gene

ENSEMBL:
Gene Tree for SPAG9 (if available)
TreeFam:
Gene Tree for SPAG9 (if available)

Paralogs for SPAG9 Gene

Paralogs for SPAG9 Gene

(2) SIMAP similar genes for SPAG9 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SPAG9: view

Variants for SPAG9 Gene

Sequence variations from dbSNP and Humsavar for SPAG9 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000023392 -- 51,062,845(+) TCCGC(C/T)TCTCA intron-variant
rs1000054564 -- 51,062,593(+) ATCTT(C/T)TTTTT intron-variant
rs1000058655 -- 51,027,703(+) TGTAT(A/C/G)AAAGT intron-variant
rs1000064779 -- 51,095,783(+) ATATA(A/G)TGATA intron-variant
rs1000067412 -- 50,964,343(+) AGCAC(G/T)TCGGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SPAG9 Gene

Variant ID Type Subtype PubMed ID
dgv1481n106 CNV tandem duplication 24896259
esv2178597 CNV deletion 18987734
esv2667230 CNV deletion 23128226
esv2672135 CNV deletion 23128226
esv2716042 CNV deletion 23290073
esv3554537 CNV deletion 23714750
esv3640760 CNV loss 21293372
nsv1055743 CNV loss 25217958
nsv1131329 CNV deletion 24896259
nsv457825 CNV gain 19166990
nsv525470 CNV loss 19592680
nsv575524 CNV gain 21841781
nsv833480 CNV loss 17160897

Variation tolerance for SPAG9 Gene

Residual Variation Intolerance Score: 6.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAG9 Gene

Human Gene Mutation Database (HGMD)
SPAG9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPAG9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPAG9 Gene

Disorders for SPAG9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPAG9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyskinesia of esophagus
  • dyskinesia of oesophagus
cardiomyopathy, hypertrophic, 2
  • hypertrophic cardiomyopathy 2
hodgkin's lymphoma, mixed cellularity
  • hodgkin lymphoma, mixed cellularity
- elite association - COSMIC cancer census association via MalaCards
Search SPAG9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPAG9

Genetic Association Database (GAD)
SPAG9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPAG9
genes like me logo Genes that share disorders with SPAG9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPAG9 Gene

Publications for SPAG9 Gene

  1. Cloning of a novel human testis mRNA specifically expressed in testicular haploid germ cells, having unique palindromic sequences and encoding a leucine zipper dimerization motif. (PMID: 9480848) Shankar S. … Suri A. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  2. Characterization of a novel human sperm-associated antigen 9 (SPAG9) having structural homology with c-Jun N-terminal kinase-interacting protein. (PMID: 15693750) Jagadish N. … Suri A. (Biochem. J. 2005) 3 4 22 64
  3. A novel protein highly expressed in testis is overexpressed in systemic sclerosis fibroblasts and targeted by autoantibodies. (PMID: 14662895) Yasuoka H. … Kuwana M. (J. Immunol. 2003) 3 4 22 64
  4. JLP: a scaffolding protein that tethers JNK/p38MAPK signaling modules and transcription factors. (PMID: 12391307) Lee C.M. … Reddy E.P. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 22 64
  5. Sperm associated antigen 9 expression and humoral response in chronic myeloid leukemia. (PMID: 20138665) Kanojia D. … Suri A. (Leuk. Res. 2010) 3 22 64

Products for SPAG9 Gene

Sources for SPAG9 Gene

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