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    SP2 Sp2 transcription factor [ Homo sapiens (human) ]

    Gene ID: 6668, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SP2provided by HGNC
    Official Full Name
    Sp2 transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:11207
    See related
    Ensembl:ENSG00000167182 MIM:601801; AllianceGenome:HGNC:11207
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 4.3), spleen (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SP2 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47896236..47931731)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48758002..48793527)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45973602..46006323)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45924483-45925091 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45931158-45931349 Neighboring gene Sp6 transcription factor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:45944035-45945234 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45963041-45963574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8643 Neighboring gene Sharpr-MPRA regulatory region 4370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8644 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45977450-45977954 Neighboring gene SP2 divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45978459-45978962 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45979467-45979970 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45981458-45981651 Neighboring gene SP2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46004735-46005236 Neighboring gene Sharpr-MPRA regulatory region 5948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12320 Neighboring gene pyridoxamine 5'-phosphate oxidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46033917-46034862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46034863-46035808 Neighboring gene proline rich 15 like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease. Marín-Muñoz J, et al. J Alzheimers Dis, 2016 Apr 25. PMID 27128372
    2. Assignment1 of Sp genes to rat chromosome bands 7q36 (Sp1), 10q31-->q32.1 (Sp2), 3q24-->q31 (Sp3) and 6q33 (Sp4) and of the SP2 gene to human chromosome bands 17q21.3-->q22 by in situ hybridization. Scohy S, et al. Cytogenet Cell Genet, 1998. PMID 9730617
    3. Transcription factor Sp2 promotes TGFB-mediated interstitial cell osteogenic differentiation in bicuspid aortic valves through a SMAD-dependent pathway. Zheng R, et al. Exp Cell Res, 2022 Feb 1. PMID 34914964
    4. Sp2 localizes to subnuclear foci associated with the nuclear matrix. Moorefield KS, et al. Mol Biol Cell, 2006 Apr. PMID 16467376, Free PMC Article
    5. Transcription Factor SP2 Regulates Ski-mediated Astrocyte Proliferation In Vitro. Da CM, et al. Neuroscience, 2021 Dec 15. PMID 34687796

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription factor Sp2 promotes TGFB-mediated interstitial cell osteogenic differentiation in bicuspid aortic valves through a SMAD-dependent pathway.
      Title: Transcription factor Sp2 promotes TGFB-mediated interstitial cell osteogenic differentiation in bicuspid aortic valves through a SMAD-dependent pathway.
    2. Transcription Factor SP2 Regulates Ski-mediated Astrocyte Proliferation In Vitro.
      Title: Transcription Factor SP2 Regulates Ski-mediated Astrocyte Proliferation In Vitro.
    3. Sp2 promotes invasion and metastasis of hepatocellular carcinoma by targeting TRIB3 protein.
      Title: Sp2 promotes invasion and metastasis of hepatocellular carcinoma by targeting TRIB3 protein.
    4. This study presented that a Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease.
      Title: Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease.
    5. SP2 recognized binding motifs in the human RORgammaT promoter, which was critical for maintaining expression. SP2 was necessary for maximum IL-17 expression in in vitro-differentiated Th17 cells. SP 2 plays a role in Th17-dependent physiologic and pathologic immune responses.
      Title: Expression of human gene coding RORγT receptor depends on the Sp2 transcription factor.
    6. O-GlcNAc modification of Sp3 and Sp4, but not Sp2 transcription factors negatively regulates their transcriptional activities.
      Title: O-GlcNAc modification of Sp3 and Sp4 transcription factors negatively regulates their transcriptional activities.
    7. Sp2 is up-regulated in gastric cancer tissues
      Title: miR-638 suppresses cell proliferation in gastric cancer by targeting Sp2.
    8. Data show that three Sp1 motifs located between -148 and -42bp upstream of the first exon were important in basic as well as in DA-induced NSMase2 promoter activity.
      Title: Transcriptional regulation of neutral sphingomyelinase 2 gene expression of a human breast cancer cell line, MCF-7, induced by the anti-cancer drug, daunorubicin.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
    10. Despite the absence of Sp2 in the 5'-upstream sequence of the human promoter, silencing of Sp2 by RNA interference clearly demonstrated that Sp2 is required for IFN-gamma-induced regulation of socs1 mRNA both in human and mouse.
      Title: Sp2 regulates interferon-gamma-mediated socs1 gene expression.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates Sp2 transcription factor in HEK 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor Sp2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003110.6 → NP_003101.3  transcription factor Sp2

      See identical proteins and their annotated locations for NP_003101.3

      Status: REVIEWED

      Source sequence(s)
      BC016680, BC033814, DB451570, M97190
      Consensus CDS
      CCDS11521.2
      UniProtKB/Swiss-Prot
      A6NK74, Q02086
      Related
      ENSP00000365931.4, ENST00000376741.5
      Conserved Domains (4) summary
      COG5048
      Location:449 → 587
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:530 → 549
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:585 → 607
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:571 → 594
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      47896236..47931731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525139.3 → XP_011523441.2  transcription factor Sp2 isoform X6

    2. XM_047436575.1 → XP_047292531.1  transcription factor Sp2 isoform X7

    3. XM_047436573.1 → XP_047292529.1  transcription factor Sp2 isoform X6

    4. XM_047436571.1 → XP_047292527.1  transcription factor Sp2 isoform X6

    5. XM_047436570.1 → XP_047292526.1  transcription factor Sp2 isoform X6

    6. XM_047436572.1 → XP_047292528.1  transcription factor Sp2 isoform X6

    7. XM_017024968.2 → XP_016880457.1  transcription factor Sp2 isoform X6

      Conserved Domains (4) summary
      COG5048
      Location:442 → 580
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:523 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:578 → 600
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:564 → 587
      zf-H2C2_2; Zinc-finger double domain

    8. XM_006722025.3 → XP_006722088.1  transcription factor Sp2 isoform X6

      See identical proteins and their annotated locations for XP_006722088.1

      Conserved Domains (4) summary
      COG5048
      Location:442 → 580
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:523 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:578 → 600
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:564 → 587
      zf-H2C2_2; Zinc-finger double domain

    9. XM_006722027.3 → XP_006722090.1  transcription factor Sp2 isoform X6

      See identical proteins and their annotated locations for XP_006722090.1

      Conserved Domains (4) summary
      COG5048
      Location:442 → 580
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:523 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:578 → 600
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:564 → 587
      zf-H2C2_2; Zinc-finger double domain

    10. XM_011525143.2 → XP_011523445.1  transcription factor Sp2 isoform X6

      See identical proteins and their annotated locations for XP_011523445.1

      Conserved Domains (4) summary
      COG5048
      Location:442 → 580
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:523 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:578 → 600
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:564 → 587
      zf-H2C2_2; Zinc-finger double domain

    11. XM_006722023.3 → XP_006722086.1  transcription factor Sp2 isoform X4

      Conserved Domains (4) summary
      COG5048
      Location:449 → 587
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:530 → 549
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:585 → 607
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:571 → 594
      zf-H2C2_2; Zinc-finger double domain

    12. XM_047436569.1 → XP_047292525.1  transcription factor Sp2 isoform X5

    13. XM_047436576.1 → XP_047292532.1  transcription factor Sp2 isoform X8

    14. XM_047436577.1 → XP_047292533.1  transcription factor Sp2 isoform X10

    15. XM_011525136.3 → XP_011523438.1  transcription factor Sp2 isoform X1

      Conserved Domains (4) summary
      COG5048
      Location:553 → 718
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:634 → 653
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:689 → 711
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:675 → 698
      zf-H2C2_2; Zinc-finger double domain

    16. XM_011525137.3 → XP_011523439.1  transcription factor Sp2 isoform X2

      Conserved Domains (4) summary
      COG5048
      Location:553 → 718
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:634 → 653
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:689 → 711
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:675 → 698
      zf-H2C2_2; Zinc-finger double domain

    17. XM_011525138.3 → XP_011523440.1  transcription factor Sp2 isoform X3

      Conserved Domains (4) summary
      COG5048
      Location:553 → 718
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:634 → 653
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:689 → 711
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:675 → 698
      zf-H2C2_2; Zinc-finger double domain

    18. XM_011525140.3 → XP_011523442.1  transcription factor Sp2 isoform X9

      Conserved Domains (4) summary
      COG5048
      Location:553 → 691
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:634 → 653
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:689 → 711
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:675 → 698
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48758002..48793527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316988.1 → XP_054172963.1  transcription factor Sp2 isoform X10

    2. XM_054316981.1 → XP_054172956.1  transcription factor Sp2 isoform X6

    3. XM_054316978.1 → XP_054172953.1  transcription factor Sp2 isoform X6

    4. XM_054316977.1 → XP_054172952.1  transcription factor Sp2 isoform X6

    5. XM_054316980.1 → XP_054172955.1  transcription factor Sp2 isoform X6

    6. XM_054316982.1 → XP_054172957.1  transcription factor Sp2 isoform X6

    7. XM_054316976.1 → XP_054172951.1  transcription factor Sp2 isoform X6

    8. XM_054316979.1 → XP_054172954.1  transcription factor Sp2 isoform X6

    9. XM_054316983.1 → XP_054172958.1  transcription factor Sp2 isoform X6

    10. XM_054316974.1 → XP_054172949.1  transcription factor Sp2 isoform X4

    11. XM_054316975.1 → XP_054172950.1  transcription factor Sp2 isoform X5

    12. XM_054316986.1 → XP_054172961.1  transcription factor Sp2 isoform X8

    13. XM_054316985.1 → XP_054172960.1  transcription factor Sp2 isoform X7

    14. XM_054316984.1 → XP_054172959.1  transcription factor Sp2 isoform X6

    15. XM_054316971.1 → XP_054172946.1  transcription factor Sp2 isoform X1

    16. XM_054316972.1 → XP_054172947.1  transcription factor Sp2 isoform X2

    17. XM_054316973.1 → XP_054172948.1  transcription factor Sp2 isoform X3

    18. XM_054316987.1 → XP_054172962.1  transcription factor Sp2 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02086.3 GenPept UniProtKB/Swiss-Prot:Q02086

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