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ZSWIM7 zinc finger SWIM-type containing 7 [ Homo sapiens (human) ]

Gene ID: 125150, updated on 7-Apr-2024

Summary

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Official Symbol
ZSWIM7provided by HGNC
Official Full Name
zinc finger SWIM-type containing 7provided by HGNC
Primary source
HGNC:HGNC:26993
See related
Ensembl:ENSG00000214941 MIM:614535; AllianceGenome:HGNC:26993
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
SWS1; ODG10; SPGF71
Summary
Predicted to enable zinc ion binding activity. Involved in double-strand break repair via homologous recombination and protein stabilization. Part of Shu complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 6.2), adrenal (RPKM 6.1) and 25 other tissues See more
Orthologs
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Genomic context

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See ZSWIM7 in Genome Data Viewer
Location:
17p12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15976560..15999704, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15878745..15901920, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15879874..15903018, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371557 Neighboring gene LCR17pA recombination region Neighboring gene SPECC1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15760104-15761059 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:15761456-15762052 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:15762053-15762649 Neighboring gene adenosine A2b receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15785055-15785554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15831280-15831780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15831781-15832281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15848447-15849261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15854153-15854950 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15869033-15869619 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15869620-15870205 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15870206-15870792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15870793-15871377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15871628-15872376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15872377-15873123 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15881867-15882452 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:15882453-15883039 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15885417-15886106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8214 Neighboring gene MPRA-validated peak2750 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8215 Neighboring gene tetratricopeptide repeat domain 19 Neighboring gene Sharpr-MPRA regulatory region 10193 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15947413-15947923 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15947924-15948433 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 11 Neighboring gene nuclear receptor corepressor 1 Neighboring gene ribosomal protein L22 pseudogene 21

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 novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. Hussain S, et al. Eur J Med Genet, 2022 Nov. PMID 36202298
  2. Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency. Yatsenko SA, et al. J Clin Endocrinol Metab, 2022 May 17. PMID 35218660, Free PMC Article
  3. ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. McGlacken-Byrne SM, et al. J Clin Endocrinol Metab, 2022 Jan 1. PMID 34402903, Free PMC Article
  4. A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination. Li Y, et al. Hum Reprod, 2021 Apr 20. PMID 33713115
  5. RAD51D splice variants and cancer-associated mutations reveal XRCC2 interaction to be critical for homologous recombination. Baldock RA, et al. DNA Repair (Amst), 2019 Apr. PMID 30836272, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females.
    Title: A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females.
  2. Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
    Title: Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
  3. ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
    Title: ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
  4. A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
    Title: A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
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

Associated conditions

Description Tests
Ovarian dysgenesis 10
MedGen: C5676966 OMIM: 619834 GeneReviews: Not available
not available
Spermatogenic failure 71
MedGen: C5676963 OMIM: 619831 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Shu complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Shu complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger SWIM domain-containing protein 7
Names
SWIM domain-containing and Srs2-interacting protein 1 homolog
SWIM-type zinc finger domain-containing protein 7

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_001042697.2 → NP_001036162.1  zinc finger SWIM domain-containing protein 7

    See identical proteins and their annotated locations for NP_001036162.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC006251, BU075283, DQ530600
    Consensus CDS
    CCDS42266.1
    UniProtKB/Swiss-Prot
    Q19AV6
    Related
    ENSP00000382218.1, ENST00000399277.6
    Conserved Domains (1) summary
    pfam04434
    Location:83 → 112
    SWIM; SWIM zinc finger

  2. NM_001042698.2 → NP_001036163.1  zinc finger SWIM domain-containing protein 7

    See identical proteins and their annotated locations for NP_001036163.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC006251, BU075283, DQ530600
    Consensus CDS
    CCDS42266.1
    UniProtKB/Swiss-Prot
    Q19AV6
    Related
    ENSP00000419138.1, ENST00000472495.5
    Conserved Domains (1) summary
    pfam04434
    Location:83 → 112
    SWIM; SWIM zinc finger

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    15976560..15999704 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435364.1 → XP_047291320.1  zinc finger SWIM domain-containing protein 7 isoform X1

    UniProtKB/Swiss-Prot
    Q19AV6

  2. XM_047435366.1 → XP_047291322.1  zinc finger SWIM domain-containing protein 7 isoform X2

  3. XM_047435365.1 → XP_047291321.1  zinc finger SWIM domain-containing protein 7 isoform X2

RNA

  1. XR_007065263.1 RNA Sequence

    Related
    ENST00000490395.5

  2. XR_007065264.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    15878745..15901920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315076.1 → XP_054171051.1  zinc finger SWIM domain-containing protein 7 isoform X1

    UniProtKB/Swiss-Prot
    Q19AV6

  2. XM_054315077.1 → XP_054171052.1  zinc finger SWIM domain-containing protein 7 isoform X2

RNA

  1. XR_008484783.1 RNA Sequence

  2. XR_008484784.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q19AV6.1 GenPept UniProtKB/Swiss-Prot:Q19AV6

Gene LinkOut

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