MIS12 (MIS12 kinetochore complex component) - Rat Genome Database

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Gene: MIS12 (MIS12 kinetochore complex component) Homo sapiens
Analyze
Symbol: MIS12
Name: MIS12 kinetochore complex component
RGD ID: 1346036
HGNC Page HGNC
Description: Involved in attachment of mitotic spindle microtubules to kinetochore and kinetochore assembly. Located in kinetochore and nucleus. Part of MIS12/MIND type complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-isobutyl-1-methyl-7H-xanthine; atrazine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 2510025F08Rik; hMis12; homolog of yeast Mis12; KNTC2AP; MGC2488; MIS12 homolog; mis12 homolog (yeast); MIS12, kinetochore complex component; MIS12, MIND kinetochore complex component, homolog; MIS12, MIND kinetochore complex component, homolog (yeast); MTW1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl175,486,285 - 5,490,814 (+)EnsemblGRCh38hg38GRCh38
GRCh38175,486,374 - 5,490,814 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37175,389,694 - 5,394,131 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,330,971 - 5,334,855 (+)NCBINCBI36hg18NCBI36
Build 34175,330,970 - 5,334,852NCBI
Celera175,406,624 - 5,410,507 (+)NCBI
Cytogenetic Map17p13.2NCBI
HuRef175,279,942 - 5,284,378 (+)NCBIHuRef
CHM1_1175,399,363 - 5,403,803 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12515822   PMID:14702039   PMID:15371340   PMID:15489334   PMID:15489336   PMID:15502821   PMID:15824131   PMID:16344560  
PMID:16381901   PMID:16585270   PMID:17981135   PMID:20231385   PMID:20360068   PMID:20404110   PMID:20562864   PMID:21199919   PMID:21353556   PMID:21873635   PMID:21875947   PMID:22371557  
PMID:22869522   PMID:23891108   PMID:24530301   PMID:24981860   PMID:25416956   PMID:25601404   PMID:25852190   PMID:26186194   PMID:26496610   PMID:26673895   PMID:26972000   PMID:27705803  
PMID:28012276   PMID:28514442   PMID:28581483   PMID:29656893   PMID:30804394   PMID:32296183   PMID:33035345  


Genomics

Comparative Map Data
MIS12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl175,486,285 - 5,490,814 (+)EnsemblGRCh38hg38GRCh38
GRCh38175,486,374 - 5,490,814 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37175,389,694 - 5,394,131 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,330,971 - 5,334,855 (+)NCBINCBI36hg18NCBI36
Build 34175,330,970 - 5,334,852NCBI
Celera175,406,624 - 5,410,507 (+)NCBI
Cytogenetic Map17p13.2NCBI
HuRef175,279,942 - 5,284,378 (+)NCBIHuRef
CHM1_1175,399,363 - 5,403,803 (+)NCBICHM1_1
Mis12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,910,394 - 70,918,197 (+)NCBIGRCm39mm39
GRCm39 Ensembl1170,910,437 - 70,918,197 (+)Ensembl
GRCm381171,019,568 - 71,027,371 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1171,019,611 - 71,027,371 (+)EnsemblGRCm38mm10GRCm38
MGSCv371170,833,113 - 70,840,636 (+)NCBIGRCm37mm9NCBIm37
MGSCv361170,835,806 - 70,843,329 (+)NCBImm8
Celera1178,574,026 - 78,581,549 (+)NCBICelera
Cytogenetic Map11B4NCBI
Mis12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21055,739,590 - 55,747,915 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1055,739,564 - 55,751,068 (+)Ensembl
Rnor_6.01057,653,685 - 57,661,833 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1057,660,067 - 57,660,687 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01057,398,658 - 57,407,046 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41057,927,346 - 57,928,594 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1054,891,204 - 54,892,452 (+)NCBICelera
Cytogenetic Map10q24NCBI
Mis12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546710,837,832 - 10,842,123 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546710,837,570 - 10,842,131 (+)NCBIChiLan1.0ChiLan1.0
MIS12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1175,526,376 - 5,530,955 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl175,529,017 - 5,529,634 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0175,534,305 - 5,538,736 (+)NCBIMhudiblu_PPA_v0panPan3
MIS12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1531,314,067 - 31,319,392 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha531,452,291 - 31,457,548 (-)NCBI
ROS_Cfam_1.0531,418,896 - 31,424,159 (-)NCBI
UMICH_Zoey_3.1531,384,435 - 31,389,705 (-)NCBI
UNSW_CanFamBas_1.0531,343,365 - 31,348,624 (-)NCBI
UU_Cfam_GSD_1.0531,519,760 - 31,525,016 (-)NCBI
Mis12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560253,572,281 - 53,577,485 (+)NCBI
SpeTri2.0NW_0049366772,323,540 - 2,328,689 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MIS12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1251,505,381 - 51,507,943 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11251,505,376 - 51,508,337 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MIS12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1164,897,672 - 4,902,085 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605916,684,905 - 16,689,657 (-)NCBIVero_WHO_p1.0
Mis12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247869,285,475 - 9,289,659 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
A004F08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37175,393,879 - 5,394,012UniSTSGRCh37
Build 36175,334,603 - 5,334,736RGDNCBI36
Celera175,410,255 - 5,410,388RGD
Cytogenetic Map17p13.2UniSTS
HuRef175,284,126 - 5,284,259UniSTS
GeneMap99-GB4 RH Map1748.02UniSTS
NCBI RH Map1780.4UniSTS
A003N29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37175,392,988 - 5,393,212UniSTSGRCh37
Build 36175,333,712 - 5,333,936RGDNCBI36
Celera175,409,364 - 5,409,588RGD
Cytogenetic Map17p13.2UniSTS
HuRef175,283,235 - 5,283,459UniSTS
GeneMap99-GB4 RH Map1747.49UniSTS
Whitehead-RH Map1761.0UniSTS
NCBI RH Map1754.6UniSTS
SHGC-36031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37175,393,971 - 5,394,115UniSTSGRCh37
Build 36175,334,695 - 5,334,839RGDNCBI36
Celera175,410,347 - 5,410,491RGD
Cytogenetic Map17p13.2UniSTS
HuRef175,284,218 - 5,284,362UniSTS
Stanford-G3 RH Map17330.0UniSTS
NCBI RH Map1799.3UniSTS
GeneMap99-G3 RH Map17330.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1275
Count of miRNA genes:606
Interacting mature miRNAs:680
Transcripts:ENST00000381165, ENST00000573759, ENST00000574186, ENST00000576570, ENST00000576988
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2209 1402 1405 325 1232 198 3302 1173 1882 285 1399 1559 140 1158 1943 3
Low 229 1584 321 299 714 267 1054 1024 1852 134 61 54 35 1 46 845 3 2
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001258217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC055839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA182670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA964146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB258115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381165   ⟹   ENSP00000370557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,486,927 - 5,490,814 (+)Ensembl
RefSeq Acc Id: ENST00000573759   ⟹   ENSP00000461252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,486,396 - 5,490,737 (+)Ensembl
RefSeq Acc Id: ENST00000574186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,486,577 - 5,487,159 (+)Ensembl
RefSeq Acc Id: ENST00000576570   ⟹   ENSP00000459366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,486,385 - 5,488,935 (+)Ensembl
RefSeq Acc Id: ENST00000576988   ⟹   ENSP00000461333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,486,285 - 5,489,237 (+)Ensembl
RefSeq Acc Id: ENST00000611091   ⟹   ENSP00000484532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,486,566 - 5,490,811 (+)Ensembl
RefSeq Acc Id: NM_001258217   ⟹   NP_001245146
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,566 - 5,490,811 (+)NCBI
GRCh37175,389,694 - 5,394,134 (+)NCBI
HuRef175,279,942 - 5,284,378 (+)NCBI
CHM1_1175,399,363 - 5,403,803 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258218   ⟹   NP_001245147
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,566 - 5,490,811 (+)NCBI
GRCh37175,389,694 - 5,394,134 (+)NCBI
HuRef175,279,942 - 5,284,378 (+)NCBI
CHM1_1175,399,363 - 5,403,803 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258219   ⟹   NP_001245148
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,374 - 5,490,811 (+)NCBI
GRCh37175,389,694 - 5,394,134 (+)NCBI
HuRef175,279,942 - 5,284,378 (+)NCBI
CHM1_1175,399,363 - 5,403,803 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258220   ⟹   NP_001245149
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,374 - 5,490,811 (+)NCBI
GRCh37175,389,694 - 5,394,134 (+)NCBI
HuRef175,279,942 - 5,284,378 (+)NCBI
CHM1_1175,399,363 - 5,403,803 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024039   ⟹   NP_076944
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,865 - 5,490,811 (+)NCBI
GRCh37175,389,694 - 5,394,134 (+)NCBI
Build 36175,330,971 - 5,334,855 (+)NCBI Archive
Celera175,406,624 - 5,410,507 (+)RGD
HuRef175,279,942 - 5,284,378 (+)NCBI
CHM1_1175,399,882 - 5,403,803 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005256797   ⟹   XP_005256854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,865 - 5,490,814 (+)NCBI
GRCh37175,389,694 - 5,394,134 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025033   ⟹   XP_016880522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,865 - 5,490,814 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025034   ⟹   XP_016880523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,865 - 5,490,814 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450924   ⟹   XP_024306692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,920 - 5,490,814 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_076944   ⟸   NM_024039
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot),   A8K1M4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245146   ⟸   NM_001258217
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245147   ⟸   NM_001258218
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245148   ⟸   NM_001258219
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245149   ⟸   NM_001258220
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005256854   ⟸   XM_005256797
- Peptide Label: isoform X1
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016880522   ⟸   XM_017025033
- Peptide Label: isoform X1
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016880523   ⟸   XM_017025034
- Peptide Label: isoform X1
- UniProtKB: Q9H081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306692   ⟸   XM_024450924
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000484532   ⟸   ENST00000611091
RefSeq Acc Id: ENSP00000461252   ⟸   ENST00000573759
RefSeq Acc Id: ENSP00000461333   ⟸   ENST00000576988
RefSeq Acc Id: ENSP00000459366   ⟸   ENST00000576570
RefSeq Acc Id: ENSP00000370557   ⟸   ENST00000381165

Promoters
RGD ID:6793929
Promoter ID:HG_KWN:24802
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000219825,   OTTHUMT00000219827,   UC002GCD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36175,330,051 - 5,330,862 (-)MPROMDB
RGD ID:6794323
Promoter ID:HG_KWN:24803
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010CLG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36175,332,471 - 5,332,971 (+)MPROMDB
RGD ID:7233555
Promoter ID:EPDNEW_H22523
Type:initiation region
Name:MIS12_3
Description:MIS12, kinetochore complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22524  EPDNEW_H22526  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,385 - 5,486,445EPDNEW
RGD ID:7233557
Promoter ID:EPDNEW_H22524
Type:initiation region
Name:MIS12_2
Description:MIS12, kinetochore complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22523  EPDNEW_H22526  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,569 - 5,486,629EPDNEW
RGD ID:7233561
Promoter ID:EPDNEW_H22526
Type:initiation region
Name:MIS12_1
Description:MIS12, kinetochore complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22523  EPDNEW_H22524  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,866 - 5,486,926EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3 copy number gain See cases [RCV000134892] Chr17:5385377..5943772 [GRCh38]
Chr17:5288697..5847092 [GRCh37]
Chr17:5229421..5787816 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 copy number loss See cases [RCV000135548] Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2
likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3 copy number gain See cases [RCV000142136] Chr17:5252176..5761432 [GRCh38]
Chr17:5155471..5664752 [GRCh37]
Chr17:5096195..5605476 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17p13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:5378522-5692834)x3 copy number gain not provided [RCV001006864] Chr17:5378522..5692834 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:5143295-5850209)x3 copy number gain not provided [RCV001259319] Chr17:5143295..5850209 [GRCh37]
Chr17:17p13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24967 AgrOrtholog
COSMIC MIS12 COSMIC
Ensembl Genes ENSG00000167842 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370557 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000459366 UniProtKB/TrEMBL
  ENSP00000461252 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000461333 UniProtKB/TrEMBL
  ENSP00000484532 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000573759 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000576570 UniProtKB/TrEMBL
  ENST00000576988 UniProtKB/TrEMBL
  ENST00000611091 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000167842 GTEx
HGNC ID HGNC:24967 ENTREZGENE
Human Proteome Map MIS12 Human Proteome Map
InterPro Centromere_Mis12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79003 UniProtKB/Swiss-Prot
NCBI Gene 79003 ENTREZGENE
OMIM 609178 OMIM
PANTHER PTHR14527 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mis12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134951024 PharmGKB
UniProt A8K1M4 ENTREZGENE, UniProtKB/TrEMBL
  I3L244_HUMAN UniProtKB/TrEMBL
  I3L4K6_HUMAN UniProtKB/TrEMBL
  MIS12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96N24 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 MIS12  MIS12 kinetochore complex component    MIS12, kinetochore complex component  Symbol and/or name change 5135510 APPROVED
2016-05-17 MIS12  MIS12, kinetochore complex component    MIS12 kinetochore complex component  Symbol and/or name change 5135510 APPROVED
2013-07-09 MIS12  MIS12 kinetochore complex component    MIS12, MIND kinetochore complex component, homolog (S. pombe)  Symbol and/or name change 5135510 APPROVED