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Gene Gene information from NCBI Gene database.
Entrez ID 253714
Gene name MMS22 like, DNA repair protein
Gene symbol MMS22L
Synonyms (NCBI Gene)
C6orf167dJ39B17.2
Chromosome 6
Chromosome location 6q16.1
Summary The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the
miRNA miRNA information provided by mirtarbase database.
724 Show/Hide all (724)
miRTarBase ID miRNA Experiments Reference
MIRT005233 hsa-let-7b-5p pSILAC 18668040
MIRT020971 hsa-miR-155-5p Proteomics 20584899
MIRT022097 hsa-miR-128-3p Sequencing 20371350
MIRT024010 hsa-miR-1-3p Proteomics 18668040
MIRT027328 hsa-miR-101-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29 Show/Hide all (29)
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 IDA 18417535
GO:0000724 Process Double-strand break repair via homologous recombination IDA 27797818
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 21055983, 21055984, 21055985
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615614 21475 ENSG00000146263
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZRQ5
Protein name Protein MMS22-like (Methyl methanesulfonate-sensitivity protein 22-like)
Protein function Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:21113133,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14910 MMS22L_N 26 → 731 S-phase genomic integrity recombination mediator, N-terminal Family
PF14911 MMS22L_C 851 → 1227 S-phase genomic integrity recombination mediator, C-terminal Family
Sequence
Sequence length 1243
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
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.
Show/Hide Unknown Diseases (17)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863, 35851147
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 35764056, 38250258
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — GWAS catalog 40155373
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE — GWAS catalog 35173190
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 30931099
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 26634245
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 24385048 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 24385048 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Kidney Failure Chronic Kidney failure Pubtator 24385048 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 30931099
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of esophagus Esophagus Neoplasm BEFREE 22895565
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 36650183 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only