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Aliases for MIS12 Gene

Aliases for MIS12 Gene

  • MIS12, Kinetochore Complex Component 2 3 5
  • MIS12, MIND Kinetochore Complex Component, Homolog (S. Pombe) 2
  • MIS12, MIND Kinetochore Complex Component, Homolog (Yeast) 2
  • MIS12, MIND Kinetochore Complex Component, Homolog 3
  • Homolog Of Yeast Mis12 3
  • Protein MIS12 Homolog 3
  • MIS12 Homolog 3
  • 2510025F08Rik 3
  • KNTC2AP 3
  • HMis12 3
  • MTW1 3

External Ids for MIS12 Gene

Previous GeneCards Identifiers for MIS12 Gene

  • GC17P005727
  • GC17P005334
  • GC17P005590
  • GC17P005330
  • GC17P005390
  • GC17P005280

Summaries for MIS12 Gene

GeneCards Summary for MIS12 Gene

MIS12 (MIS12, Kinetochore Complex Component) is a Protein Coding gene. Among its related pathways are Signaling by Rho GTPases and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for MIS12 Gene

  • Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachments (PubMed:23891108).

Gene Wiki entry for MIS12 Gene

Additional gene information for MIS12 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIS12 Gene

Genomics for MIS12 Gene

GeneHancer (GH) Regulatory Elements for MIS12 Gene

Promoters and enhancers for MIS12 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
GH17I005484 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.6 +0.2 169 3.1 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 DERL2 MIS12 RPAIN NUP88 LOC102724009 NLRP1 ENSG00000263272 DHX33 GC17M005386
GH17I004965 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 27.1 -517.7 -517669 5.4 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 SPAG7 ENSG00000262429 PIR49988 MIR6865 MIR6864 ZNF232 NUP88 MIS12 INCA1 CHRNE
GH17I005191 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.4 -294.4 -294384 1.8 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B ZNF213 ZNF594 LOC100130950 LOC101927979 RPAIN ZNF232 ANKFY1 MIS12 PELP1 RABEP1 DERL2
GH17I004996 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 19.2 -487.4 -487438 4.2 HDGF MLX ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 ZNF207 ZNF143 INCA1 KIF1C CHRNE ZNF232 NUP88 MIS12 ZZEF1 CAMTA2 DERL2 ENSG00000234203
GH17I005466 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.9 -18.1 -18062 3 HDGF CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 DHX33 LOC105371506 RPAIN NUP88 DERL2 ZNF594 RABEP1 MIS12 LOC100130950 PELP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MIS12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MIS12 gene promoter:

Genomic Locations for MIS12 Gene

Genomic Locations for MIS12 Gene
chr17:5,486,285-5,490,814
(GRCh38/hg38)
Size:
4,530 bases
Orientation:
Plus strand
chr17:5,389,605-5,394,134
(GRCh37/hg19)

Genomic View for MIS12 Gene

Genes around MIS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIS12 Gene

Proteins for MIS12 Gene

  • Protein details for MIS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H081-MIS12_HUMAN
    Recommended name:
    Protein MIS12 homolog
    Protein Accession:
    Q9H081
    Secondary Accessions:
    • Q96N24

    Protein attributes for MIS12 Gene

    Size:
    205 amino acids
    Molecular mass:
    24140 Da
    Quaternary structure:
    • Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with KNL1, CBX3, CBX5, NDC80 and ZWINT.
    SequenceCaution:
    • Sequence=AK056072; Type=Frameshift; Positions=147; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MIS12 Gene

neXtProt entry for MIS12 Gene

Post-translational modifications for MIS12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MIS12 Gene

Domains & Families for MIS12 Gene

Gene Families for MIS12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MIS12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MIS12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H081

UniProtKB/Swiss-Prot:

MIS12_HUMAN :
  • Belongs to the mis12 family.
Family:
  • Belongs to the mis12 family.
genes like me logo Genes that share domains with MIS12: view

Function for MIS12 Gene

Molecular function for MIS12 Gene

UniProtKB/Swiss-Prot Function:
Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachments (PubMed:23891108).

Phenotypes From GWAS Catalog for MIS12 Gene

Gene Ontology (GO) - Molecular Function for MIS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15371340
genes like me logo Genes that share ontologies with MIS12: view
genes like me logo Genes that share phenotypes with MIS12: view

Animal Model Products

Clone Products

  • Addgene plasmids for MIS12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MIS12 Gene

Localization for MIS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIS12 Gene

Chromosome, centromere, kinetochore. Note=Associated with the kinetochore. {ECO:0000269 PubMed:12515822, ECO:0000269 PubMed:15502821}.

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 MIS12 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for MIS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000444 MIS12/MIND type complex IDA 16585270
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IDA 15371340
GO:0000818 nuclear MIS12/MIND complex IBA --
genes like me logo Genes that share ontologies with MIS12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MIS12 Gene

Pathways & Interactions for MIS12 Gene

genes like me logo Genes that share pathways with MIS12: view

Pathways by source for MIS12 Gene

Gene Ontology (GO) - Biological Process for MIS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IMP 12515822
GO:0007062 sister chromatid cohesion TAS --
GO:0034501 protein localization to kinetochore IBA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with MIS12: view

No data available for SIGNOR curated interactions for MIS12 Gene

Drugs & Compounds for MIS12 Gene

No Compound Related Data Available

Transcripts for MIS12 Gene

Unigene Clusters for MIS12 Gene

MIS12, MIND kinetochore complex component, homolog (S. pombe):
Representative Sequences:

Clone Products

  • Addgene plasmids for MIS12

Alternative Splicing Database (ASD) splice patterns (SP) for MIS12 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - - - -
SP9: -

Relevant External Links for MIS12 Gene

GeneLoc Exon Structure for
MIS12
ECgene alternative splicing isoforms for
MIS12

Expression for MIS12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MIS12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MIS12 Gene

This gene is overexpressed in Blymphocyte (12.4), Fetal gut (10.5), Peripheral blood mononuclear cells (10.4), and Lung (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIS12 Gene



Protein tissue co-expression partners for MIS12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MIS12 Gene:

MIS12

SOURCE GeneReport for Unigene cluster for MIS12 Gene:

Hs.267194

Evidence on tissue expression from TISSUES for MIS12 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with MIS12: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIS12 Gene

Orthologs for MIS12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MIS12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIS12 33 34
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia MIS12 33 34
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Mis12 33
  • 83.91 (n)
dog
(Canis familiaris)
Mammalia MIS12 33
  • 83.66 (n)
-- 34
  • 83 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mis12 33 16 34
  • 83.58 (n)
oppossum
(Monodelphis domestica)
Mammalia MIS12 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIS12 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIS12 33 34
  • 61.9 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
OneToMany
-- 34
  • 35 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mis12 33
  • 62.25 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:64116 33
  • 50.69 (n)
MIS12 34
  • 34 (a)
OneToOne
Species where no ortholog for MIS12 was found in the sources mined by GeneCards:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 MIS12 Gene

ENSEMBL:
Gene Tree for MIS12 (if available)
TreeFam:
Gene Tree for MIS12 (if available)

Paralogs for MIS12 Gene

No data available for Paralogs for MIS12 Gene

Variants for MIS12 Gene

Sequence variations from dbSNP and Humsavar for MIS12 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000334647 -- 5,487,321(+) G/A 5_prime_UTR_variant, intron_variant
rs1000863037 -- 5,487,478(+) T/C 5_prime_UTR_variant, intron_variant
rs1000873701 -- 5,487,584(+) T/C 5_prime_UTR_variant, intron_variant
rs1000969450 -- 5,486,755(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001075134 -- 5,486,364(+) /A/G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MIS12 Gene

Variant ID Type Subtype PubMed ID
nsv1956 CNV deletion 18451855
nsv528302 CNV loss 19592680

Variation tolerance for MIS12 Gene

Residual Variation Intolerance Score: 46.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MIS12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIS12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIS12 Gene

Disorders for MIS12 Gene

Additional Disease Information for MIS12

No disorders were found for MIS12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MIS12 Gene

Publications for MIS12 Gene

  1. Human centromere chromatin protein hMis12, essential for equal segregation, is independent of CENP-A loading pathway. (PMID: 12515822) Goshima G … Yanagida M (The Journal of cell biology 2003) 2 3 4 58
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  3. Lateral to end-on conversion of chromosome-microtubule attachment requires kinesins CENP-E and MCAK. (PMID: 23891108) Shrestha RL … Draviam VM (Current biology : CB 2013) 3 4 58
  4. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PMID: 16585270) Kline SL … Desai A (The Journal of cell biology 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for MIS12 Gene

  • Addgene plasmids for MIS12

Sources for MIS12 Gene

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