TOB2 (transducer of ERBB2, 2) - Rat Genome Database

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Gene: TOB2 (transducer of ERBB2, 2) Homo sapiens
Analyze
Symbol: TOB2
Name: transducer of ERBB2, 2
RGD ID: 1342508
HGNC Page HGNC
Description: Predicted to enable transcription corepressor activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of osteoclast differentiation and positive regulation of ossification. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: APRO5; TOB4; TOBL; transducer of erbB-2 2; TROB2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TOB2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,433,494 - 41,446,801 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,433,492 - 41,448,230 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,829,498 - 41,842,805 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,159,438 - 40,172,973 (-)NCBINCBI36hg18NCBI36
Build 342240,153,991 - 40,167,527NCBI
Celera2225,635,881 - 25,649,416 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,795,461 - 24,808,986 (-)NCBIHuRef
CHM1_12241,789,383 - 41,802,909 (-)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
cytoplasm  (IBA)
cytosol  (IDA)
nucleus  (IBA)

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:10591208   PMID:10602502   PMID:11258795   PMID:11260258   PMID:11429045   PMID:12135500   PMID:12477932   PMID:15461802   PMID:15489334   PMID:17785442   PMID:19322201   PMID:19760502  
PMID:19838187   PMID:19940862   PMID:20360068   PMID:21242960   PMID:21726813   PMID:21873635   PMID:22252318   PMID:22561518   PMID:23340509   PMID:25416956   PMID:25649327   PMID:26186194  
PMID:26496610   PMID:26673895   PMID:26972000   PMID:28514442   PMID:32296183   PMID:32404348   PMID:32619704  


Genomics

Comparative Map Data
TOB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,433,494 - 41,446,801 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,433,492 - 41,448,230 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,829,498 - 41,842,805 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,159,438 - 40,172,973 (-)NCBINCBI36hg18NCBI36
Build 342240,153,991 - 40,167,527NCBI
Celera2225,635,881 - 25,649,416 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,795,461 - 24,808,986 (-)NCBIHuRef
CHM1_12241,789,383 - 41,802,909 (-)NCBICHM1_1
Tob2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391581,732,471 - 81,744,742 (-)NCBIGRCm39mm39
GRCm39 Ensembl1581,732,473 - 81,742,997 (-)Ensembl
GRCm381581,848,270 - 81,858,326 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1581,848,272 - 81,858,796 (-)EnsemblGRCm38mm10GRCm38
MGSCv371581,678,700 - 81,688,756 (-)NCBIGRCm37mm9NCBIm37
MGSCv361581,676,169 - 81,679,400 (-)NCBImm8
Celera1583,967,342 - 83,977,403 (-)NCBICelera
Cytogenetic Map15E1NCBI
Tob2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,362,703 - 113,371,423 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,361,148 - 113,372,688 (-)Ensembl
Rnor_6.07123,079,520 - 123,088,240 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,079,537 - 123,088,279 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,054,915 - 123,063,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,200,815 - 120,209,535 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,235,060 - 120,243,765 (-)NCBI
Celera7109,681,380 - 109,690,101 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tob2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541326,999,955 - 27,010,156 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541326,999,955 - 27,010,091 (-)NCBIChiLan1.0ChiLan1.0
TOB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,418,845 - 40,432,735 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02222,329,783 - 22,344,795 (-)NCBIMhudiblu_PPA_v0panPan3
TOB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,817,778 - 23,830,330 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,826,437 - 23,827,447 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,750,252 - 23,762,864 (+)NCBI
ROS_Cfam_1.01024,562,440 - 24,574,603 (+)NCBI
UMICH_Zoey_3.11024,279,209 - 24,291,370 (+)NCBI
UNSW_CanFamBas_1.01024,600,087 - 24,612,303 (+)NCBI
UU_Cfam_GSD_1.01024,774,549 - 24,786,712 (+)NCBI
Tob2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,458,068 - 7,467,435 (+)NCBI
SpeTri2.0NW_004936492467,221 - 477,838 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl57,086,587 - 7,098,627 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.157,086,397 - 7,098,643 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TOB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11923,975,676 - 23,985,701 (-)NCBI
ChlSab1.1 Ensembl1923,975,979 - 23,977,013 (-)Ensembl
Vero_WHO_p1.0NW_023666045101,432,491 - 101,446,470 (+)NCBI
Tob2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247527,129,464 - 7,190,718 (+)NCBI

Position Markers
WI-19547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,829,614 - 41,829,907UniSTSGRCh37
GRCh371957,184,062 - 57,184,355UniSTSGRCh37
Build 361961,875,874 - 61,876,167RGDNCBI36
Celera2225,636,003 - 25,636,296UniSTS
Celera1954,226,732 - 54,227,025RGD
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
HuRef2224,795,583 - 24,795,876UniSTS
GeneMap99-GB4 RH Map22138.38UniSTS
Whitehead-RH Map22155.9UniSTS
D1S3693  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p15.3-p15.2UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q32.3-q41UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q12UniSTS
ha2102  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef6116,193,246 - 116,193,650UniSTS
RH28573  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.2UniSTS
RH71330  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.2UniSTS
GeneMap99-GB4 RH Map22127.53UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR302Ahsa-miR-302a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22012620

Predicted Target Of
Summary Value
Count of predictions:1985
Count of miRNA genes:946
Interacting mature miRNAs:1126
Transcripts:ENST00000327492, ENST00000434408
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
Medium 2430 2249 1665 564 1275 406 4350 2123 3532 403 1444 1607 171 1204 2783 3
Low 9 738 61 60 673 59 6 74 200 16 16 6 4 1 5 3 2
Below cutoff 3 3 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000327492   ⟹   ENSP00000331305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,433,494 - 41,446,801 (-)Ensembl
RefSeq Acc Id: ENST00000434408   ⟹   ENSP00000388549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,437,042 - 41,446,785 (-)Ensembl
RefSeq Acc Id: NM_016272   ⟹   NP_057356
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,433,494 - 41,446,801 (-)NCBI
GRCh372241,829,492 - 41,844,234 (-)NCBI
Build 362240,159,438 - 40,172,973 (-)NCBI Archive
Celera2225,635,881 - 25,649,416 (-)RGD
HuRef2224,795,461 - 24,808,986 (-)RGD
CHM1_12241,789,383 - 41,802,909 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261315   ⟹   XP_005261372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,433,492 - 41,448,230 (-)NCBI
GRCh372241,829,492 - 41,844,234 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724105   ⟹   XP_006724168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,433,492 - 41,445,273 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028539   ⟹   XP_016884028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,433,492 - 41,448,230 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057356   ⟸   NM_016272
- UniProtKB: Q14106 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261372   ⟸   XM_005261315
- Peptide Label: isoform X1
- UniProtKB: Q14106 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724168   ⟸   XM_006724105
- Peptide Label: isoform X1
- UniProtKB: Q14106 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884028   ⟸   XM_017028539
- Peptide Label: isoform X1
- UniProtKB: Q14106 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000331305   ⟸   ENST00000327492
RefSeq Acc Id: ENSP00000388549   ⟸   ENST00000434408
Protein Domains
Anti_prolifrtn

Promoters
RGD ID:6800421
Promoter ID:HG_KWN:42984
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003BAA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,162,426 - 40,164,127 (-)MPROMDB
RGD ID:6800419
Promoter ID:HG_KWN:42985
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_016272,   OTTHUMT00000320700
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,172,711 - 40,173,817 (-)MPROMDB
RGD ID:13604250
Promoter ID:EPDNEW_H28309
Type:initiation region
Name:TOB2_1
Description:transducer of ERBB2, 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28311  EPDNEW_H28312  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,446,797 - 41,446,857EPDNEW
RGD ID:13604254
Promoter ID:EPDNEW_H28311
Type:initiation region
Name:TOB2_2
Description:transducer of ERBB2, 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28309  EPDNEW_H28312  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,448,295 - 41,448,355EPDNEW
RGD ID:13604256
Promoter ID:EPDNEW_H28312
Type:multiple initiation site
Name:TOB2_3
Description:transducer of ERBB2, 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28309  EPDNEW_H28311  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,448,549 - 41,448,609EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_016272.4(TOB2):c.789C>T (p.Asn263=) single nucleotide variant not provided [RCV000966101] Chr22:41436557 [GRCh38]
Chr22:41832561 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3 copy number gain not provided [RCV000848205] Chr22:41742988..41946225 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11980 AgrOrtholog
COSMIC TOB2 COSMIC
Ensembl Genes ENSG00000183864 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000331305 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388549 UniProtKB/TrEMBL
Ensembl Transcript ENST00000327492 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434408 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.1120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183864 GTEx
HGNC ID HGNC:11980 ENTREZGENE
Human Proteome Map TOB2 Human Proteome Map
InterPro Anti_prolifrtn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ataxin-2_C UniProtKB/Swiss-Prot
  BTG-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tob1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tob2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10766 UniProtKB/Swiss-Prot
NCBI Gene 10766 ENTREZGENE
OMIM 607396 OMIM
PANTHER PTHR17537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR17537:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAM2 UniProtKB/Swiss-Prot
PharmGKB PA36664 PharmGKB, RGD
PRINTS ANTIPRLFBTG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BTG_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTG_2 UniProtKB/Swiss-Prot
SMART btg1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF160696 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B0QXZ4_HUMAN UniProtKB/TrEMBL
  Q14106 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6FHR7 UniProtKB/Swiss-Prot
  Q6PIT9 UniProtKB/Swiss-Prot
  Q9BY97 UniProtKB/Swiss-Prot
  Q9UBI0 UniProtKB/Swiss-Prot