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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 Mitotic Metaphase and Anaphase 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

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

Genomics for MIS12 Gene

Regulatory Elements for MIS12 Gene

Enhancers for MIS12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F005511 0.2 ENCODE 12.1 +25.3 25284 0.1 ZNF366 ZNF512 DERL2 MIS12 LOC101928044 LOC728392
GH17F005515 0.5 Ensembl ENCODE 11.7 +30.3 30272 3.3 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 ZNF594 DERL2 MIS12 RPAIN LOC100130950 NLRP1 RNU7-31P LOC105371507
GH17F005525 1.3 FANTOM5 Ensembl ENCODE 11.6 +40.8 40762 3.2 PKNOX1 ATF1 INSM2 KLF17 SIN3A FEZF1 GLI4 RFX5 ZNF366 ZNF391 NLRP1 RPAIN MIS12 DERL2 DHX33 LOC105371507 RNU7-31P
GH17F005557 0.2 ENCODE 11 +71.4 71361 0.2 RNU7-31P DERL2 MIS12 LOC105371507 GC17M005386
GH17F005554 0.2 ENCODE 11 +69.2 69190 1.3 NLRP1 RPAIN DERL2 MIS12 RNU7-31P LOC105371507 GC17M005386
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MIS12 on UCSC Golden Path with GeneCards custom track

Promoters for MIS12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001339777 115 2401 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for MIS12 Gene

Chromosome:
17
Start:
5,486,285 bp from pter
End:
5,490,814 bp from pter
Size:
4,530 bases
Orientation:
Plus strand

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 CASC5, CBX3, CBX5, NDC80 and ZWINT.
    SequenceCaution:
    • Sequence=AK056072; Type=Frameshift; Positions=147; Evidence={ECO:0000305};

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

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).

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

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for MIS12 Gene 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 IEA --
GO:0000818 nuclear MIS12/MIND complex IBA --
genes like me logo Genes that share ontologies with MIS12: view

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:0000070 mitotic sister chromatid segregation IBA --
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IMP 12515822
GO:0007062 sister chromatid cohesion TAS --
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with MIS12: view

No data available for SIGNOR curated interactions for MIS12 Gene

Transcripts for MIS12 Gene

Unigene Clusters for MIS12 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with MIS12: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia MIS12 34 35
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Mis12 34
  • 83.91 (n)
dog
(Canis familiaris)
Mammalia MIS12 34
  • 83.66 (n)
-- 35
  • 83 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mis12 34 16 35
  • 83.58 (n)
oppossum
(Monodelphis domestica)
Mammalia MIS12 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIS12 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIS12 34 35
  • 61.9 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 38 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mis12 34
  • 62.25 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:64116 34
  • 50.69 (n)
MIS12 35
  • 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 Sequence Context AA Info Type
rs111419731 -- 5,490,464(+) AATAT(-/TTAA)TTATT utr-variant-3-prime
rs111604249 -- 5,486,040(+) CAGAT(A/C/T)ATGAG intron-variant, nc-transcript-variant, upstream-variant-2KB
rs112497970 -- 5,489,679(+) CTACT(C/T)TGAAC utr-variant-3-prime
rs112503920 -- 5,484,462(+) AGGCT(A/G)GTCTT intron-variant, upstream-variant-2KB
rs112722370 -- 5,489,173(+) TAAAT(A/G)TAAGG reference, missense

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)

Relevant External Links for MIS12 Gene

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

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

Disorders for MIS12 Gene

Relevant External Links for MIS12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Cell Biol. 2003) 2 3 4 64
  2. Towards 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 Res. 2001) 2 3 4 64
  3. Lateral to end-on conversion of chromosome-microtubule attachment requires kinesins CENP-E and MCAK. (PMID: 23891108) Shrestha R.L. … Draviam V.M. (Curr. Biol. 2013) 3 4 64
  4. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PMID: 16585270) Kline S.L. … Desai A. (J. Cell Biol. 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MIS12 Gene

Sources for MIS12 Gene

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