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Aliases for MMS22L Gene

Aliases for MMS22L Gene

  • MMS22 Like, DNA Repair Protein 2 3 5
  • MMS22-Like, DNA Repair Protein 2 3
  • C6orf167 3 4
  • Methyl Methanesulfonate-Sensitivity Protein 22-Like 4
  • Chromosome 6 Open Reading Frame 167 2
  • DJ39B17.2 3

External Ids for MMS22L Gene

Previous HGNC Symbols for MMS22L Gene

  • C6orf167

Previous GeneCards Identifiers for MMS22L Gene

  • GC06M097590

Summaries for MMS22L Gene

Entrez Gene Summary for MMS22L Gene

  • 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 histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants exist for this gene, but the full-length nature of only one has been determined to date. [provided by RefSeq, Dec 2015]

GeneCards Summary for MMS22L Gene

MMS22L (MMS22 Like, DNA Repair Protein) is a Protein Coding gene. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for MMS22L Gene

  • Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA.

Gene Wiki entry for MMS22L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMS22L Gene

Genomics for MMS22L Gene

Regulatory Elements for MMS22L Gene

Enhancers for MMS22L Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MMS22L on UCSC Golden Path with GeneCards custom track

Promoters for MMS22L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MMS22L on UCSC Golden Path with GeneCards custom track

Genomic Location for MMS22L Gene

Chromosome:
6
Start:
97,142,161 bp from pter
End:
97,283,437 bp from pter
Size:
141,277 bases
Orientation:
Minus strand

Genomic View for MMS22L Gene

Genes around MMS22L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMS22L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMS22L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMS22L Gene

Proteins for MMS22L Gene

  • Protein details for MMS22L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRQ5-MMS22_HUMAN
    Recommended name:
    Protein MMS22-like
    Protein Accession:
    Q6ZRQ5
    Secondary Accessions:
    • D6R9Y8
    • D6RBQ4
    • E1P529
    • Q5THT2
    • Q68CQ6
    • Q68D32

    Protein attributes for MMS22L Gene

    Size:
    1243 amino acids
    Molecular mass:
    142321 Da
    Quaternary structure:
    • Component of the MMS22L-TONSL complex, a complex at least composed of MMS22L and TONSL/NFKBIL2.
    SequenceCaution:
    • Sequence=CAI16668.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20426.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for MMS22L Gene

Proteomics data for MMS22L Gene at MOPED

Post-translational modifications for MMS22L Gene

  • Ubiquitination at Lys 54
  • Modification sites at PhosphoSitePlus

Other Protein References for MMS22L Gene

No data available for DME Specific Peptides for MMS22L Gene

Domains & Families for MMS22L Gene

Protein Domains for MMS22L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MMS22L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZRQ5

UniProtKB/Swiss-Prot:

MMS22_HUMAN :
  • Belongs to the MMS22 family. MMS22L subfamily.
Family:
  • Belongs to the MMS22 family. MMS22L subfamily.
genes like me logo Genes that share domains with MMS22L: view

No data available for Gene Families for MMS22L Gene

Function for MMS22L Gene

Molecular function for MMS22L Gene

UniProtKB/Swiss-Prot Function:
Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA.
genes like me logo Genes that share phenotypes with MMS22L: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MMS22L Gene

Localization for MMS22L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMS22L Gene

Nucleus. Note=Localizes to DNA damage sites, accumulates at stressed replication forks.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMS22L Gene COMPARTMENTS Subcellular localization image for MMS22L gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MMS22L Gene

Pathways & Interactions for MMS22L Gene

SuperPathways for MMS22L Gene

No Data Available

Gene Ontology (GO) - Biological Process for MMS22L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MMS22L Gene

Drugs & Compounds for MMS22L Gene

No Compound Related Data Available

Transcripts for MMS22L Gene

Unigene Clusters for MMS22L Gene

MMS22-like, DNA repair protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MMS22L Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: -
SP2: -
SP3: - - -
SP4: - - - - - - -
SP5: - -
SP6:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for MMS22L Gene

GeneLoc Exon Structure for
MMS22L
ECgene alternative splicing isoforms for
MMS22L

Expression for MMS22L Gene

mRNA expression in normal human tissues for MMS22L Gene

Protein differential expression in normal tissues from HIPED for MMS22L Gene

This gene is overexpressed in Heart (47.9), Prostate (10.7), and Bone (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MMS22L Gene



SOURCE GeneReport for Unigene cluster for MMS22L Gene Hs.444292

genes like me logo Genes that share expression patterns with MMS22L: view

Protein tissue co-expression partners for MMS22L Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MMS22L Gene

Orthologs for MMS22L Gene

This gene was present in the common ancestor of animals.

Orthologs for MMS22L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MMS22L 35
  • 89.07 (n)
  • 86.35 (a)
MMS22L 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MMS22L 35
  • 89.82 (n)
  • 86.87 (a)
MMS22L 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mms22l 35
  • 83.62 (n)
  • 81 (a)
Mms22l 16
Mms22l 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MMS22L 35
  • 99.41 (n)
  • 99.36 (a)
MMS22L 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mms22l 35
  • 83.76 (n)
  • 80.45 (a)
oppossum
(Monodelphis domestica)
Mammalia MMS22L 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 56 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves MMS22L 35
  • 68.95 (n)
  • 62.02 (a)
MMS22L 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMS22L 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mms22l 35
  • 61.28 (n)
  • 58.64 (a)
zebrafish
(Danio rerio)
Actinopterygii mms22l 35
  • 54.93 (n)
  • 48.88 (a)
mms22l 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14803 36
  • 20 (a)
OneToOne
Species with no ortholog for MMS22L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MMS22L Gene

ENSEMBL:
Gene Tree for MMS22L (if available)
TreeFam:
Gene Tree for MMS22L (if available)

Paralogs for MMS22L Gene

No data available for Paralogs for MMS22L Gene

Variants for MMS22L Gene

Sequence variations from dbSNP and Humsavar for MMS22L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs9374435 - 97,233,908(+) AATGT(C/T)TGGCT intron-variant, nc-transcript-variant, reference, missense
rs9481410 - 97,229,242(+) GAGAC(A/G)TTACA nc-transcript-variant, reference, missense
rs1737145 - 97,178,498(+) ATTCA(A/G)CTTGG nc-transcript-variant, reference, missense
rs10484830 - 97,165,423(+) CATTC(A/G)GATTT intron-variant, reference, missense
rs1014976 -- 97,180,566(+) AAAAG(G/T)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMS22L Gene

Variant ID Type Subtype PubMed ID
nsv886426 CNV Gain 21882294
esv2485949 CNV Deletion 19546169
esv2541663 CNV Insertion 19546169

Variation tolerance for MMS22L Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.60; 94.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMS22L Gene

HapMap Linkage Disequilibrium report
MMS22L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMS22L Gene

Disorders for MMS22L Gene

Relevant External Links for MMS22L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMS22L

No disorders were found for MMS22L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MMS22L Gene

Publications for MMS22L Gene

  1. Identification of the MMS22L-TONSL complex that promotes homologous recombination. (PMID: 21055984) Duro E. … Rouse J. (Mol. Cell 2010) 2 3 4 67
  2. The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination. (PMID: 21055983) O'Donnell L. … Durocher D. (Mol. Cell 2010) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Analysis of the Histone H3.1 Interactome: A Suitable Chaperone for the Right Event. (PMID: 26527279) Campos E.I. … Reinberg D. (Mol. Cell 2015) 3
  5. Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients. (PMID: 23785401) Leone M.A. … D'Alfonso S. (PLoS ONE 2013) 3

Products for MMS22L Gene

Sources for MMS22L Gene

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