Gene Gene information from NCBI Gene database.
Entrez ID 125150
Gene name Zinc finger SWIM-type containing 7
Gene symbol ZSWIM7
Synonyms (NCBI Gene)
ODG10SPGF71SWS1
Chromosome 17
Chromosome location 17p12
miRNA miRNA information provided by mirtarbase database.
189
miRTarBase ID miRNA Experiments Reference
MIRT025326 hsa-miR-34a-5p Proteomics 21566225
MIRT690385 hsa-miR-433-5p HITS-CLIP 23313552
MIRT690384 hsa-miR-6502-3p HITS-CLIP 23313552
MIRT690383 hsa-miR-6888-5p HITS-CLIP 23313552
MIRT690382 hsa-miR-370-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 21965664
GO:0005515 Function Protein binding IPI 21965664, 28514442, 31665741, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0006281 Process DNA repair IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614535 26993 ENSG00000214941
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q19AV6
Protein name Zinc finger SWIM domain-containing protein 7 (SWIM domain-containing and Srs2-interacting protein 1 homolog) (SWIM-type zinc finger domain-containing protein 7)
Protein function Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Required for meiotic progression, hence for fertility (PubMed:32719396,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04434 SWIM 65 113 SWIM zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in ovary and testis. {ECO:0000269|PubMed:34402903}.
Sequence
MAVVLPAVVEELLSEMAAAVQESARIPDEYLLSLKFLFGSSATQALDLVDRQSITLISSP
SGRRVYQVLGSSSKTYTCLASCHYCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQ
LSVSDKQLTDILLMEKKQEA
Sequence length 140
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Infertility disorder Likely pathogenic rs764189883 RCV002273908
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia Likely pathogenic rs368517882 RCV001544513
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian dysgenesis 10 Likely pathogenic; Pathogenic rs368517882, rs1970424535 RCV003135958
RCV002221961
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 71 Likely pathogenic; Pathogenic rs368517882, rs2151625014 RCV002221273
RCV002221450
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL ADENOMA GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION CTD, Orphanet
CTD, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Amenorrhea Associate 35218660
★☆☆☆☆
Found in Text Mining only
Arrest of spermatogenesis Associate 34402903
★☆☆☆☆
Found in Text Mining only
Epilepsy Absence Associate 35218660
★☆☆☆☆
Found in Text Mining only
Melanoma Cutaneous Malignant Associate 31673075
★☆☆☆☆
Found in Text Mining only
Primary Ovarian Insufficiency Associate 34402903, 35218660, 37953503
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Associate 29394082
★☆☆☆☆
Found in Text Mining only