MIS12 (MIS12 kinetochore complex component)

2014-11-01  

Identity

HGNC
MIS12
LOCATION
17p13.2
LOCUSID
79003
ALIAS
2510025F08Rik,KNTC2AP,MTW1,hMis12

Other Information

Locus ID:

NCBI: 79003
MIM: 609178
HGNC: 24967
Ensembl: ENSG00000167842

Variants:

dbSNP: 79003
ClinVar: 79003
TCGA: ENSG00000167842
COSMIC: MIS12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167842ENST00000381165Q9H081
ENSG00000167842ENST00000573759Q9H081
ENSG00000167842ENST00000576570I3L244
ENSG00000167842ENST00000576988I3L4K6
ENSG00000167842ENST00000611091Q9H081

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic PrometaphaseREACTOMER-HSA-68877
Resolution of Sister Chromatid CohesionREACTOMER-HSA-2500257
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
213535562011Direct binding of Cenp-C to the Mis12 complex joins the inner and outer kinetochore.114
125158222003Human centromere chromatin protein hMis12, essential for equal segregation, is independent of CENP-A loading pathway.94
165852702006The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation.93
245303012014Modular assembly of RWD domains on the Mis12 complex underlies outer kinetochore organization.53
256014042015Multiple assembly mechanisms anchor the KMN spindle checkpoint platform at human mitotic kinetochores.41
204041102010Hsp90-Sgt1 and Skp1 target human Mis12 complexes to ensure efficient formation of kinetochore-microtubule binding sites.30
280122762016Molecular basis of outer kinetochore assembly on CENP-T.30

Citation

Dessen P

MIS12 (MIS12 kinetochore complex component)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70322/mis12