PTTG2 (pituitary tumor-transforming 2) - Rat Genome Database

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Gene: PTTG2 (pituitary tumor-transforming 2) Homo sapiens
Analyze
Symbol: PTTG2
Name: pituitary tumor-transforming 2
RGD ID: 1315534
HGNC Page HGNC:9691
Description: Predicted to enable SH3 domain binding activity. Predicted to be involved in homologous chromosome segregation. Predicted to be located in cytoplasm. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: pituitary tumor-transforming gene 2 protein; securin-2
RGD Orthologs
Bonobo
Pig
Green Monkey
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
GRCh38437,960,398 - 37,961,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl437,960,398 - 37,961,128 (+)EnsemblGRCh38hg38GRCh38
GRCh37437,962,019 - 37,962,749 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36437,638,451 - 37,639,026 (+)NCBINCBI36Build 36hg18NCBI36
Build 34437,784,621 - 37,785,197NCBI
Celera438,402,353 - 38,402,928 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef437,286,672 - 37,287,247 (+)NCBIHuRef
CHM1_1437,961,186 - 37,961,761 (+)NCBICHM1_1
T2T-CHM13v2.0437,929,470 - 37,930,200 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10084610   PMID:10806349   PMID:12477932   PMID:18029348   PMID:21244100   PMID:21832049   PMID:21873635   PMID:22699663   PMID:23470537   PMID:24453475   PMID:26617803   PMID:32296183  


Genomics

Comparative Map Data
PTTG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38437,960,398 - 37,961,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl437,960,398 - 37,961,128 (+)EnsemblGRCh38hg38GRCh38
GRCh37437,962,019 - 37,962,749 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36437,638,451 - 37,639,026 (+)NCBINCBI36Build 36hg18NCBI36
Build 34437,784,621 - 37,785,197NCBI
Celera438,402,353 - 38,402,928 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef437,286,672 - 37,287,247 (+)NCBIHuRef
CHM1_1437,961,186 - 37,961,761 (+)NCBICHM1_1
T2T-CHM13v2.0437,929,470 - 37,930,200 (+)NCBIT2T-CHM13v2.0
PTTG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2338,146,106 - 38,148,809 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1438,338,501 - 38,341,204 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0432,286,126 - 32,288,823 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1438,142,892 - 38,143,509 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl438,142,923 - 38,143,532 (+)Ensemblpanpan1.1panPan2
PTTG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11663,104,698 - 63,112,382 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21668,455,362 - 68,463,042 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTTG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12712,330,744 - 12,334,472 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604758,742,148 - 58,747,955 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PTTG2
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
NM_006607.2(PTTG2):c.397G>A (p.Glu133Lys) single nucleotide variant Malignant melanoma [RCV000066411] Chr4:37960831 [GRCh38]
Chr4:37962452 [GRCh37]
Chr4:37638847 [NCBI36]
Chr4:4p14		 not provided
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p14(chr4:37283110-38559285)x3 copy number gain See cases [RCV000139187] Chr4:37283110..38559285 [GRCh38]
Chr4:37284732..38560906 [GRCh37]
Chr4:36961127..38237301 [NCBI36]
Chr4:4p14		 likely pathogenic|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_006607.3(PTTG2):c.506T>G (p.Met169Arg) single nucleotide variant Inborn genetic diseases [RCV003307220] Chr4:37960940 [GRCh38]
Chr4:37962561 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p14(chr4:37285195-38123916)x1 copy number loss not provided [RCV000743521] Chr4:37285195..38123916 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006607.3(PTTG2):c.158C>T (p.Pro53Leu) single nucleotide variant Inborn genetic diseases [RCV003277236] Chr4:37960592 [GRCh38]
Chr4:37962213 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006607.3(PTTG2):c.272A>G (p.Lys91Arg) single nucleotide variant Inborn genetic diseases [RCV003280576] Chr4:37960706 [GRCh38]
Chr4:37962327 [GRCh37]
Chr4:4p14		 likely benign
NM_006607.3(PTTG2):c.50G>A (p.Arg17His) single nucleotide variant Inborn genetic diseases [RCV002978411] Chr4:37960484 [GRCh38]
Chr4:37962105 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006607.3(PTTG2):c.298A>G (p.Thr100Ala) single nucleotide variant Inborn genetic diseases [RCV002984352] Chr4:37960732 [GRCh38]
Chr4:37962353 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006607.3(PTTG2):c.530A>G (p.Asn177Ser) single nucleotide variant Inborn genetic diseases [RCV002854197] Chr4:37960964 [GRCh38]
Chr4:37962585 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006607.3(PTTG2):c.194G>A (p.Gly65Asp) single nucleotide variant Inborn genetic diseases [RCV002989049] Chr4:37960628 [GRCh38]
Chr4:37962249 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006607.3(PTTG2):c.178A>G (p.Thr60Ala) single nucleotide variant Inborn genetic diseases [RCV002655335] Chr4:37960612 [GRCh38]
Chr4:37962233 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_006607.3(PTTG2):c.41C>G (p.Pro14Arg) single nucleotide variant Inborn genetic diseases [RCV003304410] Chr4:37960475 [GRCh38]
Chr4:37962096 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006607.3(PTTG2):c.261C>A (p.Ser87Arg) single nucleotide variant Inborn genetic diseases [RCV003179300] Chr4:37960695 [GRCh38]
Chr4:37962316 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
NM_006607.3(PTTG2):c.279G>A (p.Met93Ile) single nucleotide variant Inborn genetic diseases [RCV003346745] Chr4:37960713 [GRCh38]
Chr4:37962334 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:37769060-37985461)x3 copy number gain not provided [RCV003484175] Chr4:37769060..37985461 [GRCh37]
Chr4:4p14		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:45
Count of miRNA genes:44
Interacting mature miRNAs:45
Transcripts:ENST00000504686
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
RH124070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,962,775 - 37,963,063UniSTSGRCh37
Build 36437,639,170 - 37,639,458RGDNCBI36
Celera438,403,072 - 38,403,359RGD
Cytogenetic Map4p12UniSTS
Cytogenetic Map4p14UniSTS
HuRef437,287,391 - 37,287,678UniSTS
TNG Radiation Hybrid Map421611.0UniSTS
RH35896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,962,474 - 37,962,628UniSTSGRCh37
GRCh375159,854,770 - 159,855,651UniSTSGRCh37
Build 36437,638,869 - 37,639,023RGDNCBI36
Celera5155,887,255 - 155,888,136UniSTS
Celera438,402,771 - 38,402,925RGD
Cytogenetic Map4p12UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map5q35.1UniSTS
HuRef437,287,090 - 37,287,244UniSTS
HuRef5154,948,197 - 154,949,078UniSTS
GeneMap99-GB4 RH Map4178.39UniSTS
NCBI RH Map4478.5UniSTS
PTTG2_3222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,962,134 - 37,962,806UniSTSGRCh37
Build 36437,638,529 - 37,639,201RGDNCBI36
Celera438,402,431 - 38,403,103RGD
HuRef437,286,750 - 37,287,422UniSTS
UniSTS:481730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,962,056 - 37,962,631UniSTSGRCh37
GRCh37867,679,666 - 67,680,240UniSTSGRCh37
Celera438,402,353 - 38,402,928UniSTS
Celera863,672,565 - 63,673,139UniSTS
HuRef863,171,542 - 63,172,116UniSTS
HuRef437,286,672 - 37,287,247UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 3 2 2 1 1 2
Low 1585 2139 337 27 977 20 1488 1273 1192 48 469 575 9 432 1190
Below cutoff 573 779 908 336 591 229 2113 825 2231 191 648 686 113 667 1271 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000504686   ⟹   ENSP00000424261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl437,960,398 - 37,961,128 (+)Ensembl
RefSeq Acc Id: NM_006607   ⟹   NP_006598
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38437,960,398 - 37,961,128 (+)NCBI
GRCh37437,962,056 - 37,962,631 (+)RGD
Build 36437,638,451 - 37,639,026 (+)NCBI Archive
Celera438,402,353 - 38,402,928 (+)RGD
HuRef437,286,672 - 37,287,247 (+)RGD
CHM1_1437,961,186 - 37,961,761 (+)NCBI
T2T-CHM13v2.0437,929,470 - 37,930,200 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_006598 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC64410 (Get FASTA)   NCBI Sequence Viewer  
  AAD41262 (Get FASTA)   NCBI Sequence Viewer  
  AAF72579 (Get FASTA)   NCBI Sequence Viewer  
  AAH69114 (Get FASTA)   NCBI Sequence Viewer  
  AAH69400 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000424261
  ENSP00000424261.1
GenBank Protein Q9NZH5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006598   ⟸   NM_006607
- UniProtKB: Q9UNJ6 (UniProtKB/Swiss-Prot),   Q6NTC9 (UniProtKB/Swiss-Prot),   O95355 (UniProtKB/Swiss-Prot),   Q9NZH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000424261   ⟸   ENST00000504686

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZH5-F1-model_v2 AlphaFold Q9NZH5 1-202 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9691 AgrOrtholog
COSMIC PTTG2 COSMIC
Ensembl Genes ENSG00000250254 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000504686 ENTREZGENE
  ENST00000504686.2 UniProtKB/Swiss-Prot
GTEx ENSG00000250254 GTEx
HGNC ID HGNC:9691 ENTREZGENE
Human Proteome Map PTTG2 Human Proteome Map
InterPro Securin_separation_inhibitor UniProtKB/Swiss-Prot
KEGG Report hsa:10744 UniProtKB/Swiss-Prot
NCBI Gene 10744 ENTREZGENE
OMIM 604231 OMIM
PANTHER PTHR10418 UniProtKB/Swiss-Prot
  SECURIN-2 UniProtKB/Swiss-Prot
Pfam Securin UniProtKB/Swiss-Prot
PharmGKB PA34035 PharmGKB
UniProt O95355 ENTREZGENE
  PTTG2_HUMAN UniProtKB/Swiss-Prot
  Q6NTC9 ENTREZGENE
  Q9NZH5 ENTREZGENE
  Q9UNJ6 ENTREZGENE
UniProt Secondary O95355 UniProtKB/Swiss-Prot
  Q6NTC9 UniProtKB/Swiss-Prot
  Q9UNJ6 UniProtKB/Swiss-Prot