CCT2 (chaperonin containing TCP1 subunit 2) - Rat Genome Database

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Gene: CCT2 (chaperonin containing TCP1 subunit 2) Homo sapiens
Analyze
Symbol: CCT2
Name: chaperonin containing TCP1 subunit 2
RGD ID: 1352326
HGNC Page HGNC
Description: Enables protein folding chaperone and ubiquitin protein ligase binding activity. Involved in several processes, including chaperone mediated protein folding independent of cofactor; positive regulation of DNA biosynthetic process; and positive regulation of establishment of protein localization to telomere. Acts upstream of or within chaperone-mediated protein complex assembly. Located in cytosol and microtubule. Part of chaperonin-containing T-complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 99D8.1; CCT-beta; CCTB; chaperonin containing t-complex polypeptide 1, beta subunit; chaperonin containing t-complex polypeptide 1, subunit 2; chaperonin containing TCP1, subunit 2 (beta); epididymis secretory sperm binding protein Li 100n; HEL-S-100n; MGC142074; MGC142076; PRO1633; T-complex protein 1 subunit beta; T-complex protein 1, beta subunit; TCP-1-beta
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 Ensembl1269,585,426 - 69,601,570 (+)EnsemblGRCh38hg38GRCh38
GRCh381269,585,459 - 69,601,570 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371269,979,239 - 69,995,350 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361268,265,475 - 68,281,624 (+)NCBINCBI36hg18NCBI36
Build 341268,265,474 - 68,281,624NCBI
Celera1269,642,857 - 69,659,010 (+)NCBI
Cytogenetic Map12q15NCBI
HuRef1267,028,675 - 67,044,820 (+)NCBIHuRef
CHM1_11269,947,631 - 69,963,780 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
osteoporosis  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
amphetamine  (ISO)
arsenous acid  (EXP)
artesunate  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
ceruletide  (ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
hyaluronic acid  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP,ISO)
ivermectin  (EXP)
lead(II) chloride  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

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:7953530   PMID:9819444   PMID:10404219   PMID:10748209   PMID:11532003   PMID:11580269   PMID:12477932   PMID:12665801   PMID:14532270   PMID:15324660   PMID:15489334   PMID:15635413  
PMID:16009940   PMID:16055720   PMID:16085932   PMID:16097032   PMID:16236267   PMID:16497536   PMID:16712791   PMID:17314511   PMID:17429077   PMID:17550899   PMID:17643375   PMID:18029348  
PMID:18391951   PMID:18654987   PMID:18715871   PMID:18775504   PMID:18782753   PMID:18976975   PMID:19056867   PMID:19135240   PMID:19156129   PMID:19332537   PMID:19380743   PMID:19490893  
PMID:19738201   PMID:19851296   PMID:20080638   PMID:20198315   PMID:20348541   PMID:20458337   PMID:20467437   PMID:20562859   PMID:20573828   PMID:20697350   PMID:21081503   PMID:21081666  
PMID:21145461   PMID:21319273   PMID:21382349   PMID:21525035   PMID:21572988   PMID:21654808   PMID:21726808   PMID:21753002   PMID:21873635   PMID:21942715   PMID:22079093   PMID:22145905  
PMID:22268729   PMID:22304920   PMID:22354994   PMID:22500027   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22810585   PMID:22863883   PMID:22939629   PMID:23011926   PMID:23125841  
PMID:23166591   PMID:23184937   PMID:23190606   PMID:23245942   PMID:23349634   PMID:23376485   PMID:23383273   PMID:23398456   PMID:23402259   PMID:23438482   PMID:23443559   PMID:23455922  
PMID:23533145   PMID:23658844   PMID:23752268   PMID:23782473   PMID:23979707   PMID:24298020   PMID:24366813   PMID:24375412   PMID:24550385   PMID:24711643   PMID:24980433   PMID:24981860  
PMID:25071155   PMID:25144556   PMID:25147182   PMID:25192599   PMID:25306918   PMID:25324306   PMID:25342745   PMID:25416956   PMID:25437307   PMID:25467444   PMID:25499913   PMID:25704758  
PMID:25756610   PMID:25796446   PMID:25817432   PMID:25852190   PMID:25900982   PMID:25921289   PMID:25940091   PMID:25944111   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26209609  
PMID:26217791   PMID:26344197   PMID:26460568   PMID:26472760   PMID:26487511   PMID:26496610   PMID:26549023   PMID:26618866   PMID:26638075   PMID:26641092   PMID:26693507   PMID:26811472  
PMID:26816005   PMID:26831064   PMID:26949739   PMID:26972000   PMID:27025967   PMID:27248496   PMID:27353360   PMID:27375898   PMID:27462432   PMID:27591049   PMID:27609421   PMID:27645772  
PMID:27684187   PMID:27705803   PMID:27880917   PMID:28027390   PMID:28192407   PMID:28298427   PMID:28302793   PMID:28330616   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28581483  
PMID:28685749   PMID:28718761   PMID:28902428   PMID:28927264   PMID:29128334   PMID:29229926   PMID:29331416   PMID:29395067   PMID:29467282   PMID:29483666   PMID:29491746   PMID:29507755  
PMID:29509190   PMID:29531219   PMID:29563501   PMID:29568061   PMID:29795372   PMID:29844126   PMID:29845934   PMID:29969578   PMID:29991511   PMID:30009671   PMID:30021884   PMID:30209976  
PMID:30349055   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30472188   PMID:30575818   PMID:30711629   PMID:30745168   PMID:30809309   PMID:30833792   PMID:30890647  
PMID:30948266   PMID:30955883   PMID:30995489   PMID:31067453   PMID:31091453   PMID:31152661   PMID:31239290   PMID:31353912   PMID:31462707   PMID:31501420   PMID:31586073   PMID:31669268  
PMID:31685992   PMID:31732153   PMID:31792442   PMID:31964905   PMID:31980649   PMID:31992359   PMID:32129710   PMID:32296183   PMID:32322062   PMID:32416067   PMID:32513696   PMID:32529326  
PMID:32552912   PMID:32572027   PMID:32683582   PMID:32786267   PMID:32807901   PMID:32814053   PMID:32850835   PMID:32877691   PMID:32929329   PMID:32994395   PMID:33024031   PMID:33087562  
PMID:33144677   PMID:33226137   PMID:34079125  


Genomics

Comparative Map Data
CCT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1269,585,426 - 69,601,570 (+)EnsemblGRCh38hg38GRCh38
GRCh381269,585,459 - 69,601,570 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371269,979,239 - 69,995,350 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361268,265,475 - 68,281,624 (+)NCBINCBI36hg18NCBI36
Build 341268,265,474 - 68,281,624NCBI
Celera1269,642,857 - 69,659,010 (+)NCBI
Cytogenetic Map12q15NCBI
HuRef1267,028,675 - 67,044,820 (+)NCBIHuRef
CHM1_11269,947,631 - 69,963,780 (+)NCBICHM1_1
Cct2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910116,886,902 - 116,899,757 (-)NCBIGRCm39mm39
GRCm39 Ensembl10116,886,906 - 116,899,719 (-)Ensembl
GRCm3810117,050,997 - 117,063,852 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10117,051,001 - 117,063,814 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710116,488,054 - 116,500,870 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610116,455,109 - 116,467,875 (-)NCBImm8
Celera10118,994,151 - 119,006,966 (-)NCBICelera
Cytogenetic Map10D2NCBI
Cct2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2752,692,725 - 52,705,478 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl752,692,725 - 52,706,944 (-)Ensembl
Rnor_6.0760,106,532 - 60,122,779 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl760,109,974 - 60,122,805 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0760,106,598 - 60,122,867 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4756,391,341 - 56,404,084 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1756,412,071 - 56,424,814 (-)NCBI
Celera749,468,323 - 49,481,066 (-)NCBICelera
Cytogenetic Map7q22NCBI
Cct2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554059,892,116 - 9,904,407 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554059,892,089 - 9,904,407 (+)NCBIChiLan1.0ChiLan1.0
CCT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11269,883,710 - 69,898,671 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1269,883,710 - 69,898,671 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01267,113,221 - 67,128,159 (+)NCBIMhudiblu_PPA_v0panPan3
CCT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11011,560,287 - 11,586,559 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1011,560,396 - 11,578,433 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1011,492,095 - 11,518,353 (+)NCBI
ROS_Cfam_1.01011,683,661 - 11,709,923 (+)NCBI
UMICH_Zoey_3.11011,550,671 - 11,576,938 (+)NCBI
UNSW_CanFamBas_1.01011,797,739 - 11,824,127 (+)NCBI
UU_Cfam_GSD_1.01011,920,916 - 11,939,358 (+)NCBI
Cct2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494546,673,102 - 46,693,918 (-)NCBI
SpeTri2.0NW_0049365457,416,257 - 7,436,024 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl533,858,572 - 34,033,939 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1533,858,514 - 33,873,596 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2536,457,610 - 36,471,587 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11165,213,992 - 65,230,318 (+)NCBI
ChlSab1.1 Ensembl1165,214,060 - 65,230,379 (+)Ensembl
Vero_WHO_p1.0NW_023666037180,459,300 - 180,475,791 (-)NCBI
Cct2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475028,202,524 - 28,217,223 (-)NCBI

Position Markers
WI-19751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371269,995,075 - 69,995,332UniSTSGRCh37
Build 361268,281,342 - 68,281,599RGDNCBI36
Celera1269,658,728 - 69,658,985RGD
Cytogenetic Map12q15UniSTS
HuRef1267,044,538 - 67,044,795UniSTS
GeneMap99-GB4 RH Map12291.71UniSTS
Whitehead-RH Map12390.3UniSTS
NCBI RH Map12520.9UniSTS
SHGC-60534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371269,985,551 - 69,985,647UniSTSGRCh37
Build 361268,271,818 - 68,271,914RGDNCBI36
Celera1269,649,200 - 69,649,296RGD
Cytogenetic Map12q15UniSTS
HuRef1267,035,018 - 67,035,114UniSTS
TNG Radiation Hybrid Map1233453.0UniSTS
D12S384E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371269,995,107 - 69,995,292UniSTSGRCh37
Build 361268,281,374 - 68,281,559RGDNCBI36
Celera1269,658,760 - 69,658,945RGD
Cytogenetic Map12q15UniSTS
HuRef1267,044,570 - 67,044,755UniSTS
RH48183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371269,991,431 - 69,991,796UniSTSGRCh37
GRCh371269,991,431 - 69,991,795UniSTSGRCh37
Build 361268,277,698 - 68,278,062RGDNCBI36
Celera1269,655,085 - 69,655,450UniSTS
Celera1269,655,085 - 69,655,449RGD
Cytogenetic Map12q15UniSTS
HuRef1267,040,894 - 67,041,259UniSTS
HuRef1267,040,895 - 67,041,259UniSTS
GeneMap99-GB4 RH Map12291.1UniSTS
NCBI RH Map12522.5UniSTS
RH69725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371269,983,874 - 69,984,089UniSTSGRCh37
Build 361268,270,141 - 68,270,356RGDNCBI36
Celera1269,647,523 - 69,647,738RGD
Cytogenetic Map12q15UniSTS
HuRef1267,033,341 - 67,033,556UniSTS
GeneMap99-GB4 RH Map12277.02UniSTS
NCBI RH Map12540.3UniSTS
MARC_36444-36445:1067884409:1  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1267,040,408 - 67,040,894UniSTS
RH44186  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q15UniSTS
HuRef1267,044,576 - 67,044,682UniSTS
GeneMap99-GB4 RH Map12291.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1349
Count of miRNA genes:789
Interacting mature miRNAs:899
Transcripts:ENST00000299300, ENST00000543146, ENST00000544368, ENST00000546850, ENST00000546859, ENST00000548787, ENST00000549933, ENST00000550010, ENST00000550455, ENST00000550638, ENST00000550653, ENST00000551620, ENST00000551899, ENST00000553169
Prediction methods:Miranda, 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 1 5 1
Medium 2439 2699 1702 602 1729 443 4356 2129 3698 414 1455 1610 175 1 1204 2788 6 2
Low 292 24 22 222 22 68 36 5 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001198842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA401491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB138063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U91327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299300   ⟹   ENSP00000299300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,459 - 69,601,570 (+)Ensembl
RefSeq Acc Id: ENST00000543146   ⟹   ENSP00000445471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,666 - 69,601,565 (+)Ensembl
RefSeq Acc Id: ENST00000544368   ⟹   ENSP00000441847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,460 - 69,601,525 (+)Ensembl
RefSeq Acc Id: ENST00000546850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,589,579 - 69,592,313 (+)Ensembl
RefSeq Acc Id: ENST00000546859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,426 - 69,588,172 (+)Ensembl
RefSeq Acc Id: ENST00000548787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,589,162 - 69,593,606 (+)Ensembl
RefSeq Acc Id: ENST00000549933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,459 - 69,587,147 (+)Ensembl
RefSeq Acc Id: ENST00000550010   ⟹   ENSP00000450153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,472 - 69,601,525 (+)Ensembl
RefSeq Acc Id: ENST00000550455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,459 - 69,587,778 (+)Ensembl
RefSeq Acc Id: ENST00000550638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,459 - 69,588,436 (+)Ensembl
RefSeq Acc Id: ENST00000550653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,599,714 - 69,601,570 (+)Ensembl
RefSeq Acc Id: ENST00000551620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,459 - 69,589,751 (+)Ensembl
RefSeq Acc Id: ENST00000551899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,585,460 - 69,586,925 (+)Ensembl
RefSeq Acc Id: ENST00000553169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1269,592,537 - 69,597,242 (+)Ensembl
RefSeq Acc Id: NM_001198842   ⟹   NP_001185771
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,585,889 - 69,601,570 (+)NCBI
GRCh371269,979,206 - 70,010,595 (+)NCBI
HuRef1267,028,675 - 67,044,820 (+)ENTREZGENE
CHM1_11269,947,885 - 69,963,780 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006431   ⟹   NP_006422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,585,459 - 69,601,570 (+)NCBI
GRCh371269,979,206 - 70,010,595 (+)NCBI
Build 361268,265,475 - 68,281,624 (+)NCBI Archive
HuRef1267,028,675 - 67,044,820 (+)ENTREZGENE
CHM1_11269,947,631 - 69,963,780 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006422   ⟸   NM_006431
- Peptide Label: isoform 1
- UniProtKB: P78371 (UniProtKB/Swiss-Prot),   V9HW96 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185771   ⟸   NM_001198842
- Peptide Label: isoform 2
- UniProtKB: P78371 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000445471   ⟸   ENST00000543146
RefSeq Acc Id: ENSP00000441847   ⟸   ENST00000544368
RefSeq Acc Id: ENSP00000299300   ⟸   ENST00000299300
RefSeq Acc Id: ENSP00000450153   ⟸   ENST00000550010

Promoters
RGD ID:6789807
Promoter ID:HG_KWN:16130
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:NM_006431,   UC009ZRM.1,   UC009ZRN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361268,265,296 - 68,265,796 (+)MPROMDB
RGD ID:6850866
Promoter ID:EP73228
Type:initiation region
Name:HS_CCT2
Description:Chaperonin containing TCP1, subunit 2 (beta).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361268,265,506 - 68,265,566EPD
RGD ID:7224777
Promoter ID:EPDNEW_H18134
Type:initiation region
Name:CCT2_1
Description:chaperonin containing TCP1 subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,585,459 - 69,585,519EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006431.3(CCT2):c.839A>G (p.Glu280Gly) single nucleotide variant not provided [RCV001348501] Chr12:69593064 [GRCh38]
Chr12:69986844 [GRCh37]
Chr12:12q15
uncertain significance
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1 copy number loss See cases [RCV000135587] Chr12:68011417..75383054 [GRCh38]
Chr12:68405197..75776834 [GRCh37]
Chr12:66691464..74063101 [NCBI36]
Chr12:12q15-21.2
likely pathogenic|uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1 copy number loss See cases [RCV000142445] Chr12:65445176..71026337 [GRCh38]
Chr12:65838956..71420117 [GRCh37]
Chr12:64125223..69706384 [NCBI36]
Chr12:12q14.3-15
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_006431.3(CCT2):c.1201G>T (p.Val401Leu) single nucleotide variant not provided [RCV000730180] Chr12:69597736 [GRCh38]
Chr12:69991516 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1205A>T (p.Lys402Met) single nucleotide variant not provided [RCV000730181] Chr12:69597740 [GRCh38]
Chr12:69991520 [GRCh37]
Chr12:12q15
uncertain significance
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 copy number loss See cases [RCV000447164] Chr12:59495114..70574966 [GRCh37]
Chr12:12q14.1-15
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33
pathogenic
GRCh37/hg19 12q15(chr12:69887817-70022135)x3 copy number gain not provided [RCV000737930] Chr12:69887817..70022135 [GRCh37]
Chr12:12q15
benign
GRCh37/hg19 12q15(chr12:69892146-70024023)x3 copy number gain not provided [RCV000737931] Chr12:69892146..70024023 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.532C>T (p.His178Tyr) single nucleotide variant not provided [RCV001044249] Chr12:69589570 [GRCh38]
Chr12:69983350 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1373G>A (p.Ser458Asn) single nucleotide variant not provided [RCV001042497] Chr12:69598359 [GRCh38]
Chr12:69992139 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1358A>G (p.Asn453Ser) single nucleotide variant not provided [RCV001047658] Chr12:69598344 [GRCh38]
Chr12:69992124 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1049A>G (p.Glu350Gly) single nucleotide variant not provided [RCV001056602] Chr12:69597222 [GRCh38]
Chr12:69991002 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.170G>A (p.Arg57Gln) single nucleotide variant not provided [RCV001226396] Chr12:69587530 [GRCh38]
Chr12:69981310 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.638A>G (p.Tyr213Cys) single nucleotide variant not provided [RCV001207587] Chr12:69589676 [GRCh38]
Chr12:69983456 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.333+8C>T single nucleotide variant not provided [RCV001226259] Chr12:69588014 [GRCh38]
Chr12:69981794 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.632A>G (p.Asp211Gly) single nucleotide variant not provided [RCV001210570] Chr12:69589670 [GRCh38]
Chr12:69983450 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.490G>A (p.Gly164Ser) single nucleotide variant not provided [RCV001226478] Chr12:69589528 [GRCh38]
Chr12:69983308 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1468A>G (p.Ile490Val) single nucleotide variant not provided [RCV001245557] Chr12:69599895 [GRCh38]
Chr12:69993675 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.488C>T (p.Ala163Val) single nucleotide variant not provided [RCV001055479] Chr12:69589526 [GRCh38]
Chr12:69983306 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1418A>G (p.Asn473Ser) single nucleotide variant not provided [RCV001243999] Chr12:69598404 [GRCh38]
Chr12:69992184 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1601C>G (p.Pro534Arg) single nucleotide variant not provided [RCV001244097] Chr12:69601318 [GRCh38]
Chr12:69995098 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.412A>G (p.Arg138Gly) single nucleotide variant not provided [RCV001236598] Chr12:69588228 [GRCh38]
Chr12:69982008 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1460A>G (p.Asp487Gly) single nucleotide variant not provided [RCV001229914] Chr12:69599887 [GRCh38]
Chr12:69993667 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1463T>C (p.Met488Thr) single nucleotide variant not provided [RCV001041456] Chr12:69599890 [GRCh38]
Chr12:69993670 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1193C>T (p.Ala398Val) single nucleotide variant not provided [RCV001049949] Chr12:69597728 [GRCh38]
Chr12:69991508 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.265A>G (p.Arg89Gly) single nucleotide variant not provided [RCV001044715] Chr12:69587938 [GRCh38]
Chr12:69981718 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.260T>C (p.Met87Thr) single nucleotide variant not provided [RCV001036567] Chr12:69587933 [GRCh38]
Chr12:69981713 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1397G>A (p.Arg466Lys) single nucleotide variant not provided [RCV001215197] Chr12:69598383 [GRCh38]
Chr12:69992163 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1489T>G (p.Phe497Val) single nucleotide variant not provided [RCV001230795] Chr12:69599916 [GRCh38]
Chr12:69993696 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.175G>A (p.Ala59Thr) single nucleotide variant not provided [RCV001207208] Chr12:69587535 [GRCh38]
Chr12:69981315 [GRCh37]
Chr12:12q15
uncertain significance
GRCh37/hg19 12q15(chr12:68572386-70833868)x1 copy number loss not provided [RCV001259617] Chr12:68572386..70833868 [GRCh37]
Chr12:12q15
pathogenic
NM_006431.3(CCT2):c.86T>C (p.Phe29Ser) single nucleotide variant not provided [RCV001295173] Chr12:69586760 [GRCh38]
Chr12:69980540 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1235G>C (p.Cys412Ser) single nucleotide variant not provided [RCV001313990] Chr12:69597971 [GRCh38]
Chr12:69991751 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.964C>T (p.Arg322Cys) single nucleotide variant not provided [RCV001306736] Chr12:69593595 [GRCh38]
Chr12:69987375 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.3+6C>G single nucleotide variant not provided [RCV001313828] Chr12:69585530 [GRCh38]
Chr12:69979310 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.194A>G (p.Asn65Ser) single nucleotide variant not provided [RCV001308427] Chr12:69587554 [GRCh38]
Chr12:69981334 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.394G>A (p.Glu132Lys) single nucleotide variant not provided [RCV001305845] Chr12:69588210 [GRCh38]
Chr12:69981990 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.841C>T (p.Arg281Cys) single nucleotide variant not provided [RCV001315702] Chr12:69593066 [GRCh38]
Chr12:69986846 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1306A>G (p.Met436Val) single nucleotide variant not provided [RCV001350480] Chr12:69598042 [GRCh38]
Chr12:69991822 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.184A>G (p.Met62Val) single nucleotide variant not provided [RCV001350248] Chr12:69587544 [GRCh38]
Chr12:69981324 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.434C>T (p.Ala145Val) single nucleotide variant not provided [RCV001327006] Chr12:69588250 [GRCh38]
Chr12:69982030 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.467G>A (p.Arg156His) single nucleotide variant not provided [RCV001422436] Chr12:69589505 [GRCh38]
Chr12:69983285 [GRCh37]
Chr12:12q15
likely benign
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 copy number loss not provided [RCV001537907] Chr12:65251705..75263379 [GRCh37]
Chr12:12q14.3-21.1
pathogenic
NM_006431.3(CCT2):c.1578-6_1578-5del microsatellite not provided [RCV001396902] Chr12:69601286..69601287 [GRCh38]
Chr12:69995066..69995067 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1477A>G (p.Ile493Val) single nucleotide variant not provided [RCV001362609] Chr12:69599904 [GRCh38]
Chr12:69993684 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1012C>G (p.Pro338Ala) single nucleotide variant not provided [RCV001321592] Chr12:69597185 [GRCh38]
Chr12:69990965 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.983-4A>G single nucleotide variant not provided [RCV001321593] Chr12:69597152 [GRCh38]
Chr12:69990932 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1555A>G (p.Asn519Asp) single nucleotide variant not provided [RCV001323879] Chr12:69599982 [GRCh38]
Chr12:69993762 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.530A>G (p.Asp177Gly) single nucleotide variant not provided [RCV001364138] Chr12:69589568 [GRCh38]
Chr12:69983348 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1379A>T (p.Asp460Val) single nucleotide variant not provided [RCV001321888] Chr12:69598365 [GRCh38]
Chr12:69992145 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.406G>A (p.Ala136Thr) single nucleotide variant not provided [RCV001322093] Chr12:69588222 [GRCh38]
Chr12:69982002 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.220A>T (p.Ile74Phe) single nucleotide variant not provided [RCV001346100] Chr12:69587580 [GRCh38]
Chr12:69981360 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.398C>T (p.Ala133Val) single nucleotide variant not provided [RCV001316924] Chr12:69588214 [GRCh38]
Chr12:69981994 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.929T>C (p.Met310Thr) single nucleotide variant not provided [RCV001320768] Chr12:69593560 [GRCh38]
Chr12:69987340 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.716T>A (p.Ile239Asn) single nucleotide variant not provided [RCV001314228] Chr12:69592125 [GRCh38]
Chr12:69985905 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1464G>A (p.Met488Ile) single nucleotide variant not provided [RCV001301147] Chr12:69599891 [GRCh38]
Chr12:69993671 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1249A>T (p.Met417Leu) single nucleotide variant not provided [RCV001318200] Chr12:69597985 [GRCh38]
Chr12:69991765 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1427C>T (p.Ala476Val) single nucleotide variant not provided [RCV001317362] Chr12:69598413 [GRCh38]
Chr12:69992193 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.970G>T (p.Ala324Ser) single nucleotide variant not provided [RCV001305054] Chr12:69593601 [GRCh38]
Chr12:69987381 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.533A>G (p.His178Arg) single nucleotide variant not provided [RCV001365922] Chr12:69589571 [GRCh38]
Chr12:69983351 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.372G>C (p.Gln124His) single nucleotide variant not provided [RCV001352242] Chr12:69588188 [GRCh38]
Chr12:69981968 [GRCh37]
Chr12:12q15
uncertain significance
NM_006431.3(CCT2):c.1098C>T (p.Ala366=) single nucleotide variant not provided [RCV001501559] Chr12:69597271 [GRCh38]
Chr12:69991051 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.78+17G>C single nucleotide variant not provided [RCV001515516] Chr12:69586361 [GRCh38]
Chr12:69980141 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.402G>A (p.Thr134=) single nucleotide variant not provided [RCV001394223] Chr12:69588218 [GRCh38]
Chr12:69981998 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.99C>T (p.Ile33=) single nucleotide variant not provided [RCV001441562] Chr12:69586773 [GRCh38]
Chr12:69980553 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.759T>C (p.Gly253=) single nucleotide variant not provided [RCV001459303] Chr12:69592984 [GRCh38]
Chr12:69986764 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1209C>T (p.Asp403=) single nucleotide variant not provided [RCV001459378] Chr12:69597744 [GRCh38]
Chr12:69991524 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.78+9T>C single nucleotide variant not provided [RCV001474453] Chr12:69586353 [GRCh38]
Chr12:69980133 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1103-8A>C single nucleotide variant not provided [RCV001418622] Chr12:69597630 [GRCh38]
Chr12:69991410 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.462A>G (p.Lys154=) single nucleotide variant not provided [RCV001489449] Chr12:69589500 [GRCh38]
Chr12:69983280 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1232-15A>G single nucleotide variant not provided [RCV001518310] Chr12:69597953 [GRCh38]
Chr12:69991733 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.144+22_144+40del deletion not provided [RCV001513749] Chr12:69586837..69586855 [GRCh38]
Chr12:69980617..69980635 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.625T>C (p.Leu209=) single nucleotide variant not provided [RCV001470470] Chr12:69589663 [GRCh38]
Chr12:69983443 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.666A>G (p.Lys222=) single nucleotide variant not provided [RCV001474843] Chr12:69592075 [GRCh38]
Chr12:69985855 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1194G>T (p.Ala398=) single nucleotide variant not provided [RCV001409295] Chr12:69597729 [GRCh38]
Chr12:69991509 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1213A>C (p.Arg405=) single nucleotide variant not provided [RCV001445957] Chr12:69597748 [GRCh38]
Chr12:69991528 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1471C>T (p.Leu491=) single nucleotide variant not provided [RCV001403147] Chr12:69599898 [GRCh38]
Chr12:69993678 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1182T>C (p.Leu394=) single nucleotide variant not provided [RCV001432663] Chr12:69597717 [GRCh38]
Chr12:69991497 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.330A>G (p.Leu110=) single nucleotide variant not provided [RCV001407384] Chr12:69588003 [GRCh38]
Chr12:69981783 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1482A>G (p.Thr494=) single nucleotide variant not provided [RCV001444202] Chr12:69599909 [GRCh38]
Chr12:69993689 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.294C>T (p.Gly98=) single nucleotide variant not provided [RCV001449407] Chr12:69587967 [GRCh38]
Chr12:69981747 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.207T>C (p.Thr69=) single nucleotide variant not provided [RCV001441982] Chr12:69587567 [GRCh38]
Chr12:69981347 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1317T>C (p.Tyr439=) single nucleotide variant not provided [RCV001410847] Chr12:69598053 [GRCh38]
Chr12:69991833 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.650-12T>C single nucleotide variant not provided [RCV001429031] Chr12:69592047 [GRCh38]
Chr12:69985827 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.257-18A>T single nucleotide variant not provided [RCV001438895] Chr12:69587912 [GRCh38]
Chr12:69981692 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.780T>C (p.Ser260=) single nucleotide variant not provided [RCV001408845] Chr12:69593005 [GRCh38]
Chr12:69986785 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.615A>G (p.Leu205=) single nucleotide variant not provided [RCV001448223] Chr12:69589653 [GRCh38]
Chr12:69983433 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1569G>A (p.Ala523=) single nucleotide variant not provided [RCV001398821] Chr12:69599996 [GRCh38]
Chr12:69993776 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.969A>G (p.Leu323=) single nucleotide variant not provided [RCV001502067] Chr12:69593600 [GRCh38]
Chr12:69987380 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1335+16T>C single nucleotide variant not provided [RCV001502182] Chr12:69598087 [GRCh38]
Chr12:69991867 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.145-19C>A single nucleotide variant not provided [RCV001520518] Chr12:69587486 [GRCh38]
Chr12:69981266 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.783A>G (p.Thr261=) single nucleotide variant not provided [RCV001511038] Chr12:69593008 [GRCh38]
Chr12:69986788 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.144+16A>G single nucleotide variant not provided [RCV001516667] Chr12:69586834 [GRCh38]
Chr12:69980614 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.144+10A>G single nucleotide variant not provided [RCV001470841] Chr12:69586828 [GRCh38]
Chr12:69980608 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.256+18T>C single nucleotide variant not provided [RCV001497833] Chr12:69587634 [GRCh38]
Chr12:69981414 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.309C>T (p.Thr103=) single nucleotide variant not provided [RCV001505609] Chr12:69587982 [GRCh38]
Chr12:69981762 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.751-7G>T single nucleotide variant not provided [RCV001522807] Chr12:69592969 [GRCh38]
Chr12:69986749 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.1548T>G (p.Arg516=) single nucleotide variant not provided [RCV001486034] Chr12:69599975 [GRCh38]
Chr12:69993755 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.36T>C (p.Phe12=) single nucleotide variant not provided [RCV001517015] Chr12:69586302 [GRCh38]
Chr12:69980082 [GRCh37]
Chr12:12q15
benign
NM_006431.3(CCT2):c.1436-8C>T single nucleotide variant not provided [RCV001415720] Chr12:69599855 [GRCh38]
Chr12:69993635 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.3+9G>A single nucleotide variant not provided [RCV001437009] Chr12:69585533 [GRCh38]
Chr12:69979313 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.145-9T>C single nucleotide variant not provided [RCV001428042] Chr12:69587496 [GRCh38]
Chr12:69981276 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1185T>C (p.Cys395=) single nucleotide variant not provided [RCV001393443] Chr12:69597720 [GRCh38]
Chr12:69991500 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.423G>A (p.Leu141=) single nucleotide variant not provided [RCV001430833] Chr12:69588239 [GRCh38]
Chr12:69982019 [GRCh37]
Chr12:12q15
likely benign
NM_006431.3(CCT2):c.1296A>G (p.Glu432=) single nucleotide variant not provided [RCV001399042] Chr12:69598032 [GRCh38]
Chr12:69991812 [GRCh37]
Chr12:12q15
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1615 AgrOrtholog
COSMIC CCT2 COSMIC
Ensembl Genes ENSG00000166226 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000299300 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441847 UniProtKB/TrEMBL
  ENSP00000445471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450153 UniProtKB/TrEMBL
Ensembl Transcript ENST00000299300 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000543146 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000544368 UniProtKB/TrEMBL
  ENST00000550010 UniProtKB/TrEMBL
Gene3D-CATH 1.10.560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.7.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166226 GTEx
HGNC ID HGNC:1615 ENTREZGENE
Human Proteome Map CCT2 Human Proteome Map
InterPro Chap_CCT_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperone_TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperonin_TCP-1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cpn60/TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroEL-like_apical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GROEL-like_equatorial_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1-like_intermed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10576 ENTREZGENE
OMIM 605139 OMIM
PANTHER PTHR11353:SF23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26179 PharmGKB
PRINTS TCOMPLEXTCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TCP1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54849 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs chap_CCT_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F5GWF6_HUMAN UniProtKB/TrEMBL
  F8VQ14_HUMAN UniProtKB/TrEMBL
  P78371 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HW96 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K402 UniProtKB/Swiss-Prot
  B5BTY7 UniProtKB/Swiss-Prot
  B7Z243 UniProtKB/Swiss-Prot
  B7Z7K4 UniProtKB/Swiss-Prot
  B7ZAT2 UniProtKB/Swiss-Prot
  Q14D36 UniProtKB/Swiss-Prot
  Q6IAT3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 CCT2  chaperonin containing TCP1 subunit 2    chaperonin containing TCP1, subunit 2 (beta)  Symbol and/or name change 5135510 APPROVED