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

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
Title: Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
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.
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 EBI GWAS CatalogPubMed

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

D8S2278 (e-PCR)
- UniSTS:473906

WI-14807 (e-PCR)
- UniSTS:80975

RH121312 (e-PCR)
- UniSTS:138577

STS-AA011200 (e-PCR)
- UniSTS:75391

RH69530 (e-PCR)
- UniSTS:21216

RH35936 (e-PCR)
- UniSTS:23792

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)

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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

15976560..15999704 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q19AV6
XM_047435366.1 → XP_047291322.1 zinc finger SWIM domain-containing protein 7 isoform X2
XM_047435365.1 → XP_047291321.1 zinc finger SWIM domain-containing protein 7 isoform X2

RNA

XR_007065263.1 RNA Sequence

Related

ENST00000490395.5
XR_007065264.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

15878745..15901920 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q19AV6
XM_054315077.1 → XP_054171052.1 zinc finger SWIM domain-containing protein 7 isoform X2