Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132671
Gene name Gene Name - the full gene name approved by the HGNC.
Spermatogenesis associated 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPATA18
Synonyms (NCBI Gene) Gene synonyms aliases
Mieap, SPETEX1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality con
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017774 hsa-miR-335-5p Microarray 18185580
MIRT545174 hsa-miR-6888-5p PAR-CLIP 21572407
MIRT545172 hsa-miR-3938 PAR-CLIP 21572407
MIRT545171 hsa-miR-4768-3p PAR-CLIP 21572407
MIRT545170 hsa-miR-665 PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21264221, 22292033, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 21264221, 21264228
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612814 29579 ENSG00000163071
Protein
UniProt ID Q8TC71
Protein name Mitochondria-eating protein (Spermatogenesis-associated protein 18)
Protein function Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage (PubMed:21264221, PubMed:21264228, PubMed:22292033, PubMed:22532927). Mediator of mitochondrial prote
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16026 MIEAP 298 486 Mitochondria-eating protein Family
Sequence
MAENLKRLVSNETLRTLQEKLDFWLKEYNTNTCDQNLNHCLELIEQVAKVQGQLFGILTA
AAQEGGRNDGVETIKSRLLPWLEASFTAASLGKSVDSKVPSLQDTFDRERHKDPSPRDRD
MQQLDSNLNSTRSQCNQVQDDLVETEKNLEESKNRSAISLLAAEEEINQLKKQLKSLQAQ
EDARHRNTDQRSSENRRSEPWSLEERKREQWNSLKQNADQQDTEAMSDYKKQLRNLKEEI
AVLSAEKSALQGRSSRSRSPSPAPRSRSCSRSRSASPSTAVKVRRPSPNRSKLSNVARKA
ALLSRFSDSYSQARLDAQCLLRRCIDKAETVQRIIYIATVEAFHVAKMAFRHFKIHVRKS
LTPSYVGSNDFENAVLDYVICHLDLYDSQSSVNDVIRAMNVNPKISFPPVVDFCLLSDFI
QEICCIAFAMQALEPPLDIAYGADGEVFNDCKYRRSYDSDFTAPLVLYHVWPALMENDCV
IMKGEA
VTRRGAFWNSVRSVSRCRSRSLSPICPRSQIGLNTMSRSRSPSPIRCGLPRF
Sequence length 538
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (adult onset) N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Lung adenocarcinoma Familial squamous cell lung carcinoma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 38183982
Adenoma Associate 28058013
Breast Neoplasms Associate 30290054
Carcinoma Ductal Associate 30290054
Carcinoma Renal Cell Stimulate 36751118
Colorectal Neoplasms Associate 30290054, 35269894
Esophageal Neoplasms Associate 32736677
Gastrointestinal Neoplasms Associate 32736677
Lymphatic Metastasis Associate 35269894
Mitochondrial Diseases Associate 21264221