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ZSCAN9 zinc finger and SCAN domain containing 9 [ Homo sapiens (human) ]

Gene ID: 7746, updated on 27-Nov-2024

Summary

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Official Symbol
ZSCAN9provided by HGNC
Official Full Name
zinc finger and SCAN domain containing 9provided by HGNC
Primary source
HGNC:HGNC:12984
See related
Ensembl:ENSG00000137185 MIM:602246; AllianceGenome:HGNC:12984
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
PRD51; ZNF193
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. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 5.8), endometrium (RPKM 3.5) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZSCAN9 in Genome Data Viewer
Location:
6p22.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (28225240..28233487)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (28096976..28105223)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (28193018..28201265)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:28180715-28181391 Neighboring gene tRNA-Ser (anticodon GCT) 5-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:28184762-28184955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24348 Neighboring gene transducer of ERBB2, 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24349 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:28203630-28204444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17042 Neighboring gene zinc finger with KRAB and SCAN domains 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17043 Neighboring gene NFKB activating protein 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
  • 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. Upregulated expression of hITF in Crohn's disease and screening of hITF Interactant by a yeast two-hybrid system. Shi H, et al. Dig Dis Sci, 2010 Oct. PMID 20499178
  2. Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain. Lee PL, et al. Genomics, 1997 Jul 15. PMID 9244436
  3. The zinc finger-associated SCAN box is a conserved oligomerization domain. Williams AJ, et al. Mol Cell Biol, 1999 Dec. PMID 10567577, Free PMC Article
  4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

See all (19) citations in PubMed

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)

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 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 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 regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger and SCAN domain-containing protein 9
Names
cell proliferation-inducing gene 12 protein
cell proliferation-inducing protein 12
zinc finger protein 193

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_001199479.2 → NP_001186408.1  zinc finger and SCAN domain-containing protein 9 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK226035, AK304013
    Consensus CDS
    CCDS56407.1
    UniProtKB/Swiss-Prot
    O15535
    Related
    ENSP00000404074.2, ENST00000425468.6
    Conserved Domains (6) summary
    smart00431
    Location:48 → 160
    SCAN; leucine rich region
    COG5048
    Location:304 → 440
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:307 → 327
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:305 → 327
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:49 → 136
    SCAN; SCAN domain
    pfam13465
    Location:320 → 344
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001199480.2 → NP_001186409.1  zinc finger and SCAN domain-containing protein 9 isoform 2

    See identical proteins and their annotated locations for NP_001186409.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks a segment in the 5' UTR and an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
    Source sequence(s)
    AK226035, AL022393, AU310237
    Consensus CDS
    CCDS4646.1
    UniProtKB/Swiss-Prot
    B4E1W6, E7EVQ2, O15535, Q2TTR1
    Related
    ENSP00000433402.1, ENST00000531979.5
    Conserved Domains (3) summary
    smart00431
    Location:48 → 160
    SCAN; leucine rich region
    COG5048
    Location:253 → 389
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:256 → 276
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. NM_001410841.1 → NP_001397770.1  zinc finger and SCAN domain-containing protein 9 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL022393
    Consensus CDS
    CCDS93875.1
    UniProtKB/TrEMBL
    A0A0B4J224
    Related
    ENSP00000433468.1, ENST00000527436.5

  4. NM_006299.5 → NP_006290.1  zinc finger and SCAN domain-containing protein 9 isoform 2

    See identical proteins and their annotated locations for NP_006290.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
    Source sequence(s)
    AK226035, AK304013, BC010374
    Consensus CDS
    CCDS4646.1
    UniProtKB/Swiss-Prot
    B4E1W6, E7EVQ2, O15535, Q2TTR1
    Related
    ENSP00000252207.5, ENST00000252207.10
    Conserved Domains (3) summary
    smart00431
    Location:48 → 160
    SCAN; leucine rich region
    COG5048
    Location:253 → 389
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:256 → 276
    ZF_C2H2; C2H2 Zn finger [structural motif]

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    28225240..28233487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419316.1 → XP_047275272.1  zinc finger and SCAN domain-containing protein 9 isoform X1

  2. XM_011514878.3 → XP_011513180.1  zinc finger and SCAN domain-containing protein 9 isoform X4

    Conserved Domains (6) summary
    smart00431
    Location:180 → 292
    SCAN; leucine rich region
    COG5048
    Location:385 → 521
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:388 → 408
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:386 → 408
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:181 → 268
    SCAN; SCAN domain
    pfam13465
    Location:401 → 425
    zf-H2C2_2; Zinc-finger double domain

  3. XM_047419317.1 → XP_047275273.1  zinc finger and SCAN domain-containing protein 9 isoform X2

    Related
    ENSP00000436166.1, ENST00000527844.1

  4. XM_011514875.3 → XP_011513177.1  zinc finger and SCAN domain-containing protein 9 isoform X3

    Conserved Domains (6) summary
    smart00431
    Location:180 → 292
    SCAN; leucine rich region
    COG5048
    Location:442 → 578
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:445 → 465
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:443 → 465
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:181 → 268
    SCAN; SCAN domain
    pfam13465
    Location:458 → 482
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    28096976..28105223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356357.1 → XP_054212332.1  zinc finger and SCAN domain-containing protein 9 isoform X6

  2. XM_054356356.1 → XP_054212331.1  zinc finger and SCAN domain-containing protein 9 isoform X2

  3. XM_054356354.1 → XP_054212329.1  zinc finger and SCAN domain-containing protein 9 isoform X5

  4. XM_054356355.1 → XP_054212330.1  zinc finger and SCAN domain-containing protein 9 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15535.1 GenPept UniProtKB/Swiss-Prot:O15535

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