GAB2 (GRB2 associated binding protein 2) - Rat Genome Database
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Gene: GAB2 (GRB2 associated binding protein 2) Homo sapiens
Analyze
Symbol: GAB2
Name: GRB2 associated binding protein 2
RGD ID: 737428
HGNC Page HGNC
Description: Exhibits transmembrane receptor protein tyrosine kinase adaptor activity. Involved in osteoclast differentiation and positive regulation of cell population proliferation. Localizes to cytoplasm and plasma membrane. Biomarker of chronic myeloid leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Grb2-associated binder 2; GRB2-associated binding protein 2; GRB2-associated-binding protein 2; growth factor receptor bound protein 2-associated protein 2; KIAA0571; pp100
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 Ensembl1178,215,293 - 78,418,348 (-)EnsemblGRCh38hg38GRCh38
GRCh381178,215,293 - 78,417,820 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371177,926,339 - 78,128,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361177,603,990 - 77,806,414 (-)NCBINCBI36hg18NCBI36
Build 341177,603,989 - 77,806,414NCBI
Celera1175,234,820 - 75,437,334 (-)NCBI
Cytogenetic Map11q14.1NCBI
HuRef1174,223,774 - 74,350,451 (-)NCBIHuRef
CHM1_11177,809,494 - 78,012,010 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:9628581   PMID:9660791   PMID:10068651   PMID:10391903   PMID:10455108   PMID:10704825   PMID:10752981   PMID:10871282   PMID:10913131   PMID:11287610   PMID:11334882   PMID:11402314  
PMID:11466412   PMID:11572860   PMID:11701952   PMID:11782427   PMID:11812650   PMID:11830491   PMID:11882361   PMID:11895767   PMID:11971018   PMID:11997510   PMID:12008033   PMID:12135708  
PMID:12140767   PMID:12176364   PMID:12477932   PMID:12506011   PMID:12522270   PMID:12819203   PMID:14530346   PMID:14687710   PMID:14982882   PMID:15010462   PMID:15143164   PMID:15170389  
PMID:15356145   PMID:15574337   PMID:15750601   PMID:15952937   PMID:16135792   PMID:16219545   PMID:16253990   PMID:16344560   PMID:16368877   PMID:16369543   PMID:16371368   PMID:16736498  
PMID:17553421   PMID:17998934   PMID:18235045   PMID:18272374   PMID:18314909   PMID:18644434   PMID:18697750   PMID:18853460   PMID:18854865   PMID:19118819   PMID:19172738   PMID:19204163  
PMID:19233262   PMID:19262956   PMID:19276544   PMID:19342374   PMID:19380743   PMID:19509136   PMID:19523899   PMID:19608861   PMID:19641626   PMID:19838208   PMID:19881546   PMID:19909739  
PMID:19913121   PMID:19924507   PMID:20087860   PMID:20188796   PMID:20237496   PMID:20413850   PMID:20534741   PMID:20574532   PMID:20628086   PMID:20634593   PMID:20697350   PMID:20888920  
PMID:20936779   PMID:21102462   PMID:21108942   PMID:21118992   PMID:21285854   PMID:21552417   PMID:21653832   PMID:21706016   PMID:21996746   PMID:22851227   PMID:22856364   PMID:22859374  
PMID:22883624   PMID:22926523   PMID:23231021   PMID:23401857   PMID:23525328   PMID:23724096   PMID:23805312   PMID:24161894   PMID:24327320   PMID:24385586   PMID:24805943   PMID:24998422  
PMID:25159185   PMID:25231870   PMID:25416956   PMID:25598421   PMID:25852062   PMID:25921289   PMID:26045784   PMID:26186194   PMID:26354435   PMID:26503584   PMID:26611835   PMID:26617767  
PMID:26657155   PMID:26673895   PMID:26754532   PMID:26839216   PMID:27025927   PMID:27026230   PMID:27035789   PMID:27173435   PMID:27311772   PMID:27544933   PMID:28000880   PMID:28096188  
PMID:28202507   PMID:28295819   PMID:28320126   PMID:28361043   PMID:28412750   PMID:28420432   PMID:28477539   PMID:28514442   PMID:28791340   PMID:28960030   PMID:29507755   PMID:29781037  
PMID:30088171   PMID:30093110   PMID:30326469   PMID:30442766   PMID:30720118   PMID:30755611   PMID:31164678   PMID:31194976   PMID:31515488   PMID:31585087   PMID:31698596   PMID:31980649  
PMID:32296183   PMID:32522441   PMID:32814053  


Genomics

Candidate Gene Status
GAB2 is a candidate Gene for QTL BMD9_H
Comparative Map Data
GAB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1178,215,293 - 78,418,348 (-)EnsemblGRCh38hg38GRCh38
GRCh381178,215,293 - 78,417,820 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371177,926,339 - 78,128,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361177,603,990 - 77,806,414 (-)NCBINCBI36hg18NCBI36
Build 341177,603,989 - 77,806,414NCBI
Celera1175,234,820 - 75,437,334 (-)NCBI
Cytogenetic Map11q14.1NCBI
HuRef1174,223,774 - 74,350,451 (-)NCBIHuRef
CHM1_11177,809,494 - 78,012,010 (-)NCBICHM1_1
Gab2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39796,730,958 - 96,958,158 (+)NCBIGRCm39mm39
GRCm39 Ensembl796,730,793 - 96,958,153 (+)Ensembl
GRCm38797,081,751 - 97,308,951 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl797,081,586 - 97,308,946 (+)EnsemblGRCm38mm10GRCm38
MGSCv377104,230,261 - 104,457,461 (+)NCBIGRCm37mm9NCBIm37
MGSCv36796,956,943 - 97,180,228 (+)NCBImm8
MGSCv36786,817,681 - 87,047,535 (+)NCBImm8
Cytogenetic Map7E1NCBI
Gab2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21151,429,844 - 151,625,708 (+)NCBI
Rnor_6.0 Ensembl1162,083,030 - 162,279,727 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01162,082,876 - 162,283,379 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01168,423,264 - 168,486,051 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41154,348,777 - 154,544,906 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11154,427,186 - 154,623,310 (+)NCBI
Celera1149,534,433 - 149,721,184 (+)NCBICelera
Cytogenetic Map1q32NCBI
Gab2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541413,679,588 - 13,751,079 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541413,640,713 - 13,754,401 (+)NCBIChiLan1.0ChiLan1.0
GAB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11176,896,691 - 76,965,955 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1176,896,691 - 76,967,007 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01173,275,360 - 73,478,272 (-)NCBIMhudiblu_PPA_v0panPan3
GAB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2120,277,507 - 20,606,736 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12120,414,903 - 20,605,807 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gab2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364986,775,170 - 6,835,680 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl912,656,882 - 12,851,402 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1912,663,658 - 12,851,423 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2913,937,322 - 14,135,579 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GAB2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1169,422,517 - 69,624,411 (-)NCBI
ChlSab1.1 Ensembl169,424,100 - 69,624,279 (-)Ensembl
Gab2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248631,216,664 - 1,410,934 (-)NCBI

Position Markers
STS-T71628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,972,338 - 77,972,537UniSTSGRCh37
Build 361177,649,986 - 77,650,185RGDNCBI36
Celera1175,280,823 - 75,281,022RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,269,734 - 74,269,933UniSTS
GeneMap99-GB4 RH Map11277.42UniSTS
RH36097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371178,000,958 - 78,001,072UniSTSGRCh37
Build 361177,678,606 - 77,678,720RGDNCBI36
Celera1175,309,441 - 75,309,555RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,298,378 - 74,298,492UniSTS
GeneMap99-GB4 RH Map11272.83UniSTS
L02008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,339,063 - 182,339,184UniSTSGRCh37
Build 361180,605,686 - 180,605,807RGDNCBI36
Celera1155,450,175 - 155,450,288RGD
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q14.1UniSTS
HuRef1153,574,304 - 153,574,413UniSTS
HuRef1174,320,865 - 74,320,953UniSTS
WI-17046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371178,076,054 - 78,076,180UniSTSGRCh37
Build 361177,753,702 - 77,753,828RGDNCBI36
Celera1175,384,520 - 75,384,646RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,373,568 - 74,373,694UniSTS
GeneMap99-GB4 RH Map11276.82UniSTS
Whitehead-RH Map11375.6UniSTS
RH92579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,926,357 - 77,926,488UniSTSGRCh37
Build 361177,604,005 - 77,604,136RGDNCBI36
Celera1175,234,841 - 75,234,972RGD
Cytogenetic Map11q14.1UniSTS
GeneMap99-GB4 RH Map11276.82UniSTS
RH123649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,958,798 - 77,959,121UniSTSGRCh37
Build 361177,636,446 - 77,636,769RGDNCBI36
Celera1175,267,283 - 75,267,606RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,256,194 - 74,256,517UniSTS
TNG Radiation Hybrid Map1135525.0UniSTS
G59501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,926,261 - 77,926,365UniSTSGRCh37
Build 361177,603,909 - 77,604,013RGDNCBI36
Celera1175,234,745 - 75,234,849RGD
Cytogenetic Map11q14.1UniSTS
TNG Radiation Hybrid Map1135495.0UniSTS
D16S399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371178,023,451 - 78,023,538UniSTSGRCh37
GRCh371182,339,063 - 182,339,184UniSTSGRCh37
Build 361180,605,686 - 180,605,807RGDNCBI36
Celera1155,450,175 - 155,450,288RGD
Celera1175,331,931 - 75,332,018UniSTS
Cytogenetic Map11q14.1UniSTS
HuRef1174,320,866 - 74,320,953UniSTS
HuRef1153,574,304 - 153,574,413UniSTS
D11S3459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371178,106,145 - 78,106,295UniSTSGRCh37
Build 361177,783,793 - 77,783,943RGDNCBI36
Celera1175,414,612 - 75,414,762RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,403,660 - 74,403,810UniSTS
SHGC-146074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,962,605 - 77,962,880UniSTSGRCh37
Build 361177,640,253 - 77,640,528RGDNCBI36
Celera1175,271,090 - 75,271,365RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,260,001 - 74,260,276UniSTS
TNG Radiation Hybrid Map1135521.0UniSTS
D11S1067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,937,454 - 77,937,717UniSTSGRCh37
Build 361177,615,102 - 77,615,365RGDNCBI36
Celera1175,245,938 - 75,246,201RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,234,849 - 74,235,112UniSTS
WI-15100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,926,218 - 77,926,367UniSTSGRCh37
Build 361177,603,866 - 77,604,015RGDNCBI36
Celera1175,234,702 - 75,234,851RGD
Cytogenetic Map11q14.1UniSTS
GeneMap99-GB4 RH Map11276.82UniSTS
Whitehead-RH Map11375.6UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7Ghsa-let-7g-5pOncomiRDBexternal_infoNANA21868760

Predicted Target Of
Summary Value
Count of predictions:6270
Count of miRNA genes:1150
Interacting mature miRNAs:1459
Transcripts:ENST00000340149, ENST00000361507, ENST00000526030, ENST00000528329, ENST00000528886, ENST00000530915, ENST00000534823
Prediction methods:Microtar, 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 1
Medium 1646 2327 797 130 1429 56 3451 861 3289 202 1040 1218 84 1 1192 2019 6 1
Low 793 664 926 491 506 406 903 1336 445 215 418 395 91 12 769 1
Below cutoff 3 3 16 3 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA865573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB011143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB018413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI858080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY799914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA674753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB636423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340149   ⟹   ENSP00000343959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,215,297 - 78,341,880 (-)Ensembl
RefSeq Acc Id: ENST00000361507   ⟹   ENSP00000354952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,215,293 - 78,417,820 (-)Ensembl
RefSeq Acc Id: ENST00000526030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,226,957 - 78,417,822 (-)Ensembl
RefSeq Acc Id: ENST00000528329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,226,620 - 78,231,932 (-)Ensembl
RefSeq Acc Id: ENST00000528886   ⟹   ENSP00000433762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,250,271 - 78,418,348 (-)Ensembl
RefSeq Acc Id: ENST00000530915   ⟹   ENSP00000431868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,250,357 - 78,417,779 (-)Ensembl
RefSeq Acc Id: ENST00000534823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,280,460 - 78,417,771 (-)Ensembl
RefSeq Acc Id: NM_012296   ⟹   NP_036428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,215,293 - 78,341,919 (-)NCBI
GRCh371177,926,336 - 78,128,868 (-)ENTREZGENE
Build 361177,603,990 - 77,730,574 (-)NCBI Archive
HuRef1174,223,774 - 74,350,451 (-)NCBI
CHM1_11177,809,494 - 77,936,062 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080491   ⟹   NP_536739
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,215,293 - 78,417,820 (-)NCBI
GRCh371177,926,336 - 78,128,868 (-)ENTREZGENE
Build 361177,603,990 - 77,806,414 (-)NCBI Archive
HuRef1174,223,774 - 74,350,451 (-)NCBI
CHM1_11177,809,494 - 78,012,010 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718753   ⟹   XP_006718816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,215,296 - 78,417,779 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545408   ⟹   XP_011543710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,215,301 - 78,318,214 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448782   ⟹   XP_024304550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,215,296 - 78,355,575 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036428   ⟸   NM_012296
- Peptide Label: isoform b
- UniProtKB: Q9UQC2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_536739   ⟸   NM_080491
- Peptide Label: isoform a
- UniProtKB: Q9UQC2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006718816   ⟸   XM_006718753
- Peptide Label: isoform X2
- UniProtKB: Q9UQC2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543710   ⟸   XM_011545408
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024304550   ⟸   XM_024448782
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000431868   ⟸   ENST00000530915
RefSeq Acc Id: ENSP00000354952   ⟸   ENST00000361507
RefSeq Acc Id: ENSP00000343959   ⟸   ENST00000340149
RefSeq Acc Id: ENSP00000433762   ⟸   ENST00000528886
Protein Domains
PH

Promoters
RGD ID:6788953
Promoter ID:HG_KWN:13813
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_080491
Position:
Human AssemblyChrPosition (strand)Source
Build 361177,806,671 - 77,807,302 (-)MPROMDB
RGD ID:7221675
Promoter ID:EPDNEW_H16583
Type:single initiation site
Name:GAB2_2
Description:GRB2 associated binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16584  EPDNEW_H16585  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,311,806 - 78,311,866EPDNEW
RGD ID:7221677
Promoter ID:EPDNEW_H16584
Type:initiation region
Name:GAB2_3
Description:GRB2 associated binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16583  EPDNEW_H16585  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,341,894 - 78,341,954EPDNEW
RGD ID:7221679
Promoter ID:EPDNEW_H16585
Type:initiation region
Name:GAB2_1
Description:GRB2 associated binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16583  EPDNEW_H16584  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,417,820 - 78,417,880EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3 copy number gain See cases [RCV000053637] Chr11:78362208..86165380 [GRCh38]
Chr11:78073254..85876422 [GRCh37]
Chr11:77750902..85554070 [NCBI36]
Chr11:11q14.1-14.2
pathogenic
NM_080491.2(GAB2):c.76-28553A>G single nucleotide variant Lung cancer [RCV000110274] Chr11:78309454 [GRCh38]
Chr11:78020500 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_080491.3(GAB2):c.1947G>A (p.Glu649=) single nucleotide variant not provided [RCV000969262] Chr11:78219356 [GRCh38]
Chr11:77930402 [GRCh37]
Chr11:11q14.1
benign
NM_080491.3(GAB2):c.1658+8C>T single nucleotide variant not provided [RCV000896076] Chr11:78222097 [GRCh38]
Chr11:77933143 [GRCh37]
Chr11:11q14.1
benign
NM_080491.3(GAB2):c.950C>T (p.Pro317Leu) single nucleotide variant not provided [RCV000891651] Chr11:78226722 [GRCh38]
Chr11:77937768 [GRCh37]
Chr11:11q14.1
benign
NM_080491.3(GAB2):c.402C>T (p.Ala134=) single nucleotide variant not provided [RCV000974266] Chr11:78250375 [GRCh38]
Chr11:77961421 [GRCh37]
Chr11:11q14.1
benign
NM_080491.3(GAB2):c.2022C>T (p.Ala674=) single nucleotide variant not provided [RCV000885563] Chr11:78219281 [GRCh38]
Chr11:77930327 [GRCh37]
Chr11:11q14.1
benign
NM_080491.3(GAB2):c.404G>T (p.Gly135Val) single nucleotide variant not provided [RCV000957283] Chr11:78250373 [GRCh38]
Chr11:77961419 [GRCh37]
Chr11:11q14.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14458 AgrOrtholog
COSMIC GAB2 COSMIC
Ensembl Genes ENSG00000033327 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000343959 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354952 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431868 UniProtKB/TrEMBL
  ENSP00000433762 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340149 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528886 UniProtKB/TrEMBL
  ENST00000530915 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000033327 GTEx
HGNC ID HGNC:14458 ENTREZGENE
Human Proteome Map GAB2 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9846 UniProtKB/Swiss-Prot
NCBI Gene 9846 ENTREZGENE
OMIM 606203 OMIM
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28478 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PJ26_HUMAN UniProtKB/TrEMBL
  E9PJE2_HUMAN UniProtKB/TrEMBL
  GAB2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2RRM2 UniProtKB/Swiss-Prot
  A6NEW9 UniProtKB/Swiss-Prot
  A7MD36 UniProtKB/Swiss-Prot
  O60317 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 GAB2  GRB2 associated binding protein 2    GRB2-associated binding protein 2  Symbol and/or name change 5135510 APPROVED