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    SP9 Sp9 transcription factor [ Homo sapiens (human) ]

    Gene ID: 100131390, updated on 8-Mar-2024

    Summary

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    Official Symbol
    SP9provided by HGNC
    Official Full Name
    Sp9 transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:30690
    See related
    Ensembl:ENSG00000217236 AllianceGenome:HGNC:30690
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZNF990
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q31.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (174334954..174338500)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (174823644..174827190)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (175199682..175203228)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 39 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:175190859-175191676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175193313-175194128 Neighboring gene long intergenic non-protein coding RNA 1305 Neighboring gene VISTA enhancer hs860 Neighboring gene uncharacterized LOC102724194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12125 Neighboring gene VISTA enhancer hs953 Neighboring gene Sharpr-MPRA regulatory region 8106 Neighboring gene corepressor interacting with RBPJ, CIR1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175256788-175256952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175260886-175261386 Neighboring gene secernin 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:175274337-175274938

    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
    • 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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    2. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
    3. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
    4. Human transcription factor protein interaction networks. Göös H, et al. Nat Commun, 2022 Feb 9. PMID 35140242, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor Sp9
    Names
    Sp9 transcription factor homolog
    zinc finger protein 990

    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_001145250.2 → NP_001138722.1  transcription factor Sp9

      See identical proteins and their annotated locations for NP_001138722.1

      Status: VALIDATED

      Source sequence(s)
      AC018470
      Consensus CDS
      CCDS46453.1
      UniProtKB/Swiss-Prot
      P0CG40
      Related
      ENSP00000378418.2, ENST00000394967.3
      Conserved Domains (4) summary
      sd00017
      Location:337 → 356
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:392 → 414
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:378 → 401
      zf-H2C2_2; Zinc-finger double domain
      cd22549
      Location:19 → 333
      SP9_N; N-terminal domain of transcription factor Specificity Protein (SP) 9 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      174334954..174338500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      174823644..174827190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CG40.1 GenPept UniProtKB/Swiss-Prot:P0CG40

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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