Aliases for MAJIN Gene

Aliases for MAJIN Gene

  • Membrane Anchored Junction Protein 2 3 5
  • Membrane-Anchored Junction Protein 3 4
  • C11orf85 3 4
  • Chromosome 11 Open Reading Frame 85 2
  • MAJIN 5

External Ids for MAJIN Gene

Previous HGNC Symbols for MAJIN Gene

  • C11orf85

Previous GeneCards Identifiers for MAJIN Gene

  • GC11M064976
  • GC11M064981
  • GC11M064989
  • GC11M065007
  • GC11M064938
  • GC11M064939
  • GC11M064951
  • GC11M064960
  • GC11M064966
  • GC11M065021

Summaries for MAJIN Gene

GeneCards Summary for MAJIN Gene

MAJIN (Membrane Anchored Junction Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for MAJIN Gene

  • Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAJIN Gene

Genomics for MAJIN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAJIN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J064970 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 255.3 +0.6 644 2.5 BHLHE40 ZNF395 VEZF1 MAX SMARCA4 PKNOX1 NRF1 ZBTB33 TFDP1 IKZF1 MAJIN ARL2 GPHA2 SNX15 EHD1 ENSG00000270775 CCDC88B PPP2R5B CAPN1 piR-53177-006
GH11J064884 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +82.1 82071 10.2 TBP ZBTB10 MXD4 CEBPA NR2C1 MNT DEK IKZF1 SMAD5 IRF2 EHD1 HSALNG0084832 MIR192 MIR194-2 MIR194-2HG SF1 SYVN1 NEAT1 PLCB3 POLA2
GH11J064923 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 +47.3 47304 2.8 CHD2 ZBTB10 SP1 MXD4 CEBPA SIX5 NR2C1 MNT DEK IKZF1 MN309369 PPP2R5B MIR192 MAJIN ARL2 lnc-PPP2R5B-1 GPHA2
GH11J064846 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +115.1 115129 20.8 ZBTB10 SP1 BCL11A MXD4 CEBPA NR2C1 MNT DEK IKZF1 ZFP64 EHD1 EHBP1L1 MAP4K2 MIR192 MEN1 MAJIN GPHA2 MAP3K11 CDC42EP2 CDC42BPG
GH11J065047 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -75.6 -75593 1.4 RBFOX2 lnc-CDCA5-2 NAALADL1 SNX15 CDCA5 ZFPL1 VPS51 ENSG00000254501 TM7SF2 MAJIN HSALNG0084847
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAJIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAJIN

Genomic Locations for MAJIN Gene

Latest Assembly
chr11:64,937,517-64,972,108
(GRCh38/hg38)
Size:
34,592 bases
Orientation:
Minus strand

Previous Assembly
chr11:64,705,702-64,739,580
(GRCh37/hg19 by Entrez Gene)
Size:
33,879 bases
Orientation:
Minus strand

chr11:64,704,989-64,739,557
(GRCh37/hg19 by Ensembl)
Size:
34,569 bases
Orientation:
Minus strand

Genomic View for MAJIN Gene

Genes around MAJIN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MAJIN Gene

Proteins for MAJIN Gene

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

    Protein Symbol:
    Q3KP22-MAJIN_HUMAN
    Recommended name:
    Membrane-anchored junction protein
    Protein Accession:
    Q3KP22
    Secondary Accessions:
    • B3KS99
    • E9PPE5

    Protein attributes for MAJIN Gene

    Size:
    176 amino acids
    Molecular mass:
    20078 Da
    Quaternary structure:
    • Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2.

    Three dimensional structures from OCA and Proteopedia for MAJIN Gene

    Alternative splice isoforms for MAJIN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAJIN Gene

Post-translational modifications for MAJIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAJIN Gene

Domains & Families for MAJIN Gene

Gene Families for MAJIN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAJIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAJIN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ35811 fis, clone TESTI2006045 (B3KS99_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3KP22

UniProtKB/Swiss-Prot:

MAJIN_HUMAN :
  • Belongs to the MAJIN family.
Family:
  • Belongs to the MAJIN family.
genes like me logo Genes that share domains with MAJIN: view

Function for MAJIN Gene

Molecular function for MAJIN Gene

UniProtKB/Swiss-Prot Function:
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.

Phenotypes From GWAS Catalog for MAJIN Gene

Gene Ontology (GO) - Molecular Function for MAJIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with MAJIN: view

Phenotypes for MAJIN Gene

genes like me logo Genes that share phenotypes with MAJIN: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAJIN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAJIN Gene

Localization for MAJIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAJIN Gene

Nucleus inner membrane. Single-pass membrane protein. Chromosome, telomere. Note=In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250 UniProtKB:Q9D992}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAJIN gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for MAJIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IBA,ISS --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005639 integral component of nuclear inner membrane ISS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with MAJIN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAJIN Gene

Pathways & Interactions for MAJIN Gene

PathCards logo

SuperPathways for MAJIN Gene

No Data Available

SIGNOR curated interactions for MAJIN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MAJIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007129 synapsis ISS --
GO:0045141 meiotic telomere clustering ISS --
GO:0051321 meiotic cell cycle IEA --
GO:0070197 meiotic attachment of telomere to nuclear envelope IBA,ISS --
genes like me logo Genes that share ontologies with MAJIN: view

No data available for Pathways by source for MAJIN Gene

Drugs & Compounds for MAJIN Gene

No Compound Related Data Available

Transcripts for MAJIN Gene

mRNA/cDNA for MAJIN Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAJIN

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

No ASD Table

Relevant External Links for MAJIN Gene

GeneLoc Exon Structure for
MAJIN

Expression for MAJIN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAJIN

No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAJIN Gene

Orthologs for MAJIN Gene

This gene was present in the common ancestor of mammals.

Orthologs for MAJIN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C11orf85 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C18H11orf85 30
  • 86.86 (n)
C11orf85 31
  • 76 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C29H11orf85 30
  • 83.33 (n)
C11orf85 31
  • 54 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC499306 30
  • 81.59 (n)
Mouse
(Mus musculus)
Mammalia 1700123I01Rik 30 31
  • 75 (n)
OneToOne
Majin 17
Platypus
(Ornithorhynchus anatinus)
Mammalia C11orf85 31
  • 63 (a)
OneToOne
Species where no ortholog for MAJIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for MAJIN Gene

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

Paralogs for MAJIN Gene

No data available for Paralogs for MAJIN Gene

Variants for MAJIN Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAJIN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680
nsv555208 CNV loss 21841781

Variation tolerance for MAJIN Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAJIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAJIN

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAJIN Gene

Disorders for MAJIN Gene

Additional Disease Information for MAJIN

No disorders were found for MAJIN Gene.

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

Publications for MAJIN Gene

  1. MAJIN Links Telomeric DNA to the Nuclear Membrane by Exchanging Telomere Cap. (PMID: 26548954) Shibuya H … Watanabe Y (Cell 2015) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope. (PMID: 30718482) Wang Y … Lei M (Nature communications 2019) 3
  5. Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1. (PMID: 30559341) Dunce JM … Davies OR (Nature communications 2018) 3

Products for MAJIN Gene

Sources for MAJIN Gene