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ZSCAN2 zinc finger and SCAN domain containing 2 [ Homo sapiens (human) ]

Gene ID: 54993, updated on 11-Apr-2024

Summary

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Official Symbol
ZSCAN2provided by HGNC
Official Full Name
zinc finger and SCAN domain containing 2provided by HGNC
Primary source
HGNC:HGNC:20994
See related
Ensembl:ENSG00000176371 AllianceGenome:HGNC:20994
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
Also known as
ZFP29; ZNF854
Summary
The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 2.7), testis (RPKM 2.7) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
15q25.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84601009..84623716)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82353436..82376136)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85144240..85166947)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene golgin A6 family like 5, pseudogene Neighboring gene UBE2Q2 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6767 Neighboring gene uncharacterized LOC105370947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6768 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85146655-85147283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85152722-85153247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6770 Neighboring gene SCAN domain containing 2 pseudogene Neighboring gene egl-9 family hypoxia inducible factor 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85196867-85197834 Neighboring gene WD repeat domain 73

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. A zinc finger protein-encoding gene expressed in the post-meiotic phase of spermatogenesis. Denny P, et al. Gene, 1991 Oct 15. PMID 1937051
  2. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Nicolas E, et al. Eur J Hum Genet, 2010 Oct. PMID 20531441, Free PMC Article
  3. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
  4. The functional interactome landscape of the human histone deacetylase family. Joshi P, et al. Mol Syst Biol, 2013. PMID 23752268, Free PMC Article
  5. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PMID:1937051 pertains to studies in mouse.
    Title: A zinc finger protein-encoding gene expressed in the post-meiotic phase of spermatogenesis.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

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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Markers

Homology

Clone Names

  • FLJ20595

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 transcription 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
  
Process Evidence Code Pubs
involved_in cell differentiation 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
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger and SCAN domain-containing protein 2
Names
zfp-29
zinc finger protein 29 homolog
zinc finger protein 854

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.

Genomic

  1. NG_047160.1 RefSeqGene

    Range
    5024..27731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007072.2 → NP_001007073.1  zinc finger and SCAN domain-containing protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001007073.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a different 3' terminal exon compared to transcript variants 1 and 2, resulting in the shortest isoform (3) with a distinct C-terminus.
    Source sequence(s)
    AC048382, AW452266, AY279349, BC041620
    Consensus CDS
    CCDS32315.1
    UniProtKB/Swiss-Prot
    Q7Z7L9
    Related
    ENSP00000368663.3, ENST00000379358.7
    Conserved Domains (1) summary
    pfam02023
    Location:72 → 134
    SCAN; SCAN domain

  2. NM_017894.6 → NP_060364.4  zinc finger and SCAN domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_060364.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a different 3' terminal exon compared to transcript variant 1, resulting in a shorter isoform (2) with a distinct C-terminus.
    Source sequence(s)
    AC048382, BC041620
    Consensus CDS
    CCDS32316.1
    Related
    ENSP00000333895.3, ENST00000334141.7
    Conserved Domains (1) summary
    pfam02023
    Location:72 → 134
    SCAN; SCAN domain

  3. NM_181877.4 → NP_870992.2  zinc finger and SCAN domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_870992.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC048382, AK128624, AY262259, BC041620, BU733585, CK003500
    Consensus CDS
    CCDS10329.2
    UniProtKB/Swiss-Prot
    A6NG83, B2RMQ9, Q6ZQY9, Q7Z7L9, Q9NWU4
    Related
    ENSP00000445451.1, ENST00000546148.6
    Conserved Domains (3) summary
    COG5048
    Location:220 → 600
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:364 → 384
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam02023
    Location:72 → 134
    SCAN; SCAN domain

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    84601009..84623716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432781.1 → XP_047288737.1  zinc finger and SCAN domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A6NG83, B2RMQ9, Q6ZQY9, Q7Z7L9, Q9NWU4

  2. XM_024449975.2 → XP_024305743.1  zinc finger and SCAN domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A6NG83, B2RMQ9, Q6ZQY9, Q7Z7L9, Q9NWU4
    Related
    ENSP00000410198.2, ENST00000448803.6
    Conserved Domains (3) summary
    COG5048
    Location:220 → 600
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:364 → 384
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam02023
    Location:72 → 134
    SCAN; SCAN domain

  3. XM_024449978.2 → XP_024305746.1  zinc finger and SCAN domain-containing protein 2 isoform X5

    Conserved Domains (3) summary
    COG5048
    Location:251 → 631
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:395 → 415
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl02605
    Location:70 → 157
    SCAN; SCAN oligomerization domain

  4. XM_017022393.3 → XP_016877882.1  zinc finger and SCAN domain-containing protein 2 isoform X4

  5. XM_047432782.1 → XP_047288738.1  zinc finger and SCAN domain-containing protein 2 isoform X3

  6. XM_024449976.2 → XP_024305744.1  zinc finger and SCAN domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    F8W6Y9
    Related
    ENSP00000351257.3, ENST00000358472.3
    Conserved Domains (2) summary
    COG5048
    Location:70 → 450
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:214 → 234
    ZF_C2H2; C2H2 Zn finger [structural motif]

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791797.1 Reference GRCh38.p14 PATCHES

    Range
    1092855..1115562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333157.1 → XP_054189132.1  zinc finger and SCAN domain-containing protein 2 isoform X5

  2. XM_054333156.1 → XP_054189131.1  zinc finger and SCAN domain-containing protein 2 isoform X4

  3. XM_054333155.1 → XP_054189130.1  zinc finger and SCAN domain-containing protein 2 isoform X3

  4. XM_054333154.1 → XP_054189129.1  zinc finger and SCAN domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    F8W6Y9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    82353436..82376136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378350.1 → XP_054234325.1  zinc finger and SCAN domain-containing protein 2 isoform X5

  2. XM_054378349.1 → XP_054234324.1  zinc finger and SCAN domain-containing protein 2 isoform X4

  3. XM_054378348.1 → XP_054234323.1  zinc finger and SCAN domain-containing protein 2 isoform X3

  4. XM_054378347.1 → XP_054234322.1  zinc finger and SCAN domain-containing protein 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z7L9.2 GenPept UniProtKB/Swiss-Prot:Q7Z7L9

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