GRB14 (growth factor receptor bound protein 14) - Rat Genome Database

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Gene: GRB14 (growth factor receptor bound protein 14) Homo sapiens
Analyze
Symbol: GRB14
Name: growth factor receptor bound protein 14
RGD ID: 732013
HGNC Page HGNC
Description: Enables receptor tyrosine kinase binding activity. Involved in negative regulation of insulin receptor signaling pathway. Located in cytoplasm; intracellular membrane-bounded organelle; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GRB14 adapter protein; growth factor receptor-bound protein 14
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 Ensembl2164,492,417 - 164,621,482 (-)EnsemblGRCh38hg38GRCh38
GRCh382164,492,417 - 164,622,959 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372165,348,927 - 165,477,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362165,057,569 - 165,186,606 (-)NCBINCBI36hg18NCBI36
Build 342165,174,839 - 165,303,865NCBI
Celera2158,959,227 - 159,088,293 (-)NCBI
Cytogenetic Map2q24.3NCBI
HuRef2157,231,772 - 157,360,824 (-)NCBIHuRef
CHM1_12165,355,217 - 165,484,258 (-)NCBICHM1_1
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
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
atrazine  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clomipramine  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dipentyl phthalate  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
flutamide  (ISO)
fonofos  (EXP)
furan  (ISO)
hydroxyurea  (ISO)
imipramine  (ISO)
indometacin  (EXP)
ketoconazole  (ISO)
methapyrilene  (ISO)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP)
parathion  (EXP)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rimonabant  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8647858   PMID:8812444   PMID:9360986   PMID:10521483   PMID:10713090   PMID:11235915   PMID:11278563   PMID:11607834   PMID:11726652   PMID:12242277   PMID:12477932   PMID:12853971  
PMID:15146197   PMID:15210700   PMID:15322292   PMID:15372466   PMID:15489334   PMID:16037382   PMID:16246733   PMID:16582879   PMID:16849634   PMID:16934761   PMID:19268276   PMID:19359342  
PMID:19648926   PMID:20339536   PMID:20379614   PMID:20932831   PMID:20935629   PMID:21572416   PMID:21873635   PMID:21874001   PMID:21988832   PMID:22158039   PMID:22581228   PMID:22948154  
PMID:22973453   PMID:23043714   PMID:23190452   PMID:23457408   PMID:23670221   PMID:23754948   PMID:23827965   PMID:24273167   PMID:24455749   PMID:24509480   PMID:24535599   PMID:24728074  
PMID:24954895   PMID:25578860   PMID:25814554   PMID:26965150   PMID:27281273   PMID:28130417   PMID:28295264   PMID:31347216   PMID:31391242   PMID:32296183  


Genomics

Candidate Gene Status
GRB14 is a candidate Gene for QTL GLUCO106_H
Comparative Map Data
GRB14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2164,492,417 - 164,621,482 (-)EnsemblGRCh38hg38GRCh38
GRCh382164,492,417 - 164,622,959 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372165,348,927 - 165,477,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362165,057,569 - 165,186,606 (-)NCBINCBI36hg18NCBI36
Build 342165,174,839 - 165,303,865NCBI
Celera2158,959,227 - 159,088,293 (-)NCBI
Cytogenetic Map2q24.3NCBI
HuRef2157,231,772 - 157,360,824 (-)NCBIHuRef
CHM1_12165,355,217 - 165,484,258 (-)NCBICHM1_1
Grb14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39264,742,820 - 64,853,354 (-)NCBIGRCm39mm39
GRCm39 Ensembl264,742,820 - 64,855,331 (-)Ensembl
GRCm38264,912,476 - 65,022,766 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl264,912,476 - 65,024,987 (-)EnsemblGRCm38mm10GRCm38
MGSCv37264,750,535 - 64,860,823 (-)NCBIGRCm37mm9NCBIm37
MGSCv36264,713,317 - 64,823,605 (-)NCBImm8
Celera266,583,155 - 66,693,422 (-)NCBICelera
Cytogenetic Map2C1.3NCBI
Grb14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2349,568,210 - 49,683,805 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl350,937,669 - 51,054,378 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0350,937,403 - 51,054,447 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0357,679,758 - 57,695,025 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0357,578,226 - 57,619,404 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4346,832,380 - 46,952,670 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1346,728,757 - 46,849,042 (-)NCBI
Celera349,175,830 - 49,290,450 (-)NCBICelera
Cytogenetic Map3q21NCBI
Grb14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554499,466,706 - 9,591,598 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554499,466,764 - 9,589,559 (+)NCBIChiLan1.0ChiLan1.0
GRB14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B169,135,019 - 169,262,834 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B169,135,231 - 169,263,874 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B51,773,844 - 51,902,420 (-)NCBIMhudiblu_PPA_v0panPan3
GRB14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1369,711,885 - 9,843,266 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl369,712,142 - 9,721,769 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha369,856,214 - 9,987,580 (-)NCBI
ROS_Cfam_1.0369,844,049 - 9,975,461 (-)NCBI
UMICH_Zoey_3.1369,855,062 - 9,986,361 (-)NCBI
UNSW_CanFamBas_1.0369,897,060 - 10,011,627 (-)NCBI
UU_Cfam_GSD_1.03610,011,150 - 10,142,536 (-)NCBI
Grb14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303126,875,121 - 126,989,222 (-)NCBI
SpeTri2.0NW_00493646914,628,478 - 14,742,327 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRB14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1571,119,926 - 71,247,393 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11571,119,928 - 71,247,426 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21579,273,968 - 79,340,255 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GRB14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11049,952,835 - 50,085,274 (-)NCBI
ChlSab1.1 Ensembl1049,953,059 - 50,084,869 (-)Ensembl
Vero_WHO_p1.0NW_023666040149,415,172 - 149,544,225 (+)NCBI
Grb14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624732811,486 - 949,972 (+)NCBI

Position Markers
RH69060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,349,367 - 165,349,487UniSTSGRCh37
Build 362165,057,613 - 165,057,733RGDNCBI36
Celera2158,959,271 - 158,959,391RGD
Cytogenetic Map2q22-q24UniSTS
HuRef2157,231,816 - 157,231,936UniSTS
GeneMap99-GB4 RH Map2544.47UniSTS
RH27221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,430,079 - 165,430,242UniSTSGRCh37
GRCh378109,214,020 - 109,215,243UniSTSGRCh37
Build 362165,138,325 - 165,138,488RGDNCBI36
Celera8105,401,171 - 105,402,394UniSTS
Celera2159,039,951 - 159,040,114RGD
Cytogenetic Map2q22-q24UniSTS
Cytogenetic Map8q22-q23UniSTS
HuRef8104,535,400 - 104,536,623UniSTS
HuRef2157,312,521 - 157,312,684UniSTS
SHGC-111120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,354,089 - 165,354,382UniSTSGRCh37
Build 362165,062,335 - 165,062,628RGDNCBI36
Celera2158,963,993 - 158,964,286RGD
Cytogenetic Map2q22-q24UniSTS
HuRef2157,236,537 - 157,236,830UniSTS
TNG Radiation Hybrid Map293550.0UniSTS
GRB14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372165,365,067 - 165,365,279UniSTSGRCh37
Celera2158,974,957 - 158,975,169UniSTS
HuRef2157,247,519 - 157,247,731UniSTS
WI-11831  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q22-q24UniSTS
HuRef2157,231,821 - 157,231,923UniSTS
GeneMap99-GB4 RH Map2544.04UniSTS
Whitehead-RH Map2826.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:498
Count of miRNA genes:319
Interacting mature miRNAs:340
Transcripts:ENST00000263915, ENST00000424693, ENST00000446413, ENST00000469573, ENST00000488342, ENST00000497306, ENST00000543549
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 263 89 1038 413 27 411 827 90 588 251 552 458 4 36 591 1
Low 2053 2175 675 172 499 50 3352 2068 2647 150 749 1115 133 1 1163 2149 3 1
Below cutoff 102 655 6 39 827 4 162 28 482 17 152 29 36 5 48 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN266581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB560753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC359097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263915   ⟹   ENSP00000263915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2164,492,417 - 164,621,482 (-)Ensembl
RefSeq Acc Id: ENST00000424693   ⟹   ENSP00000401702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2164,525,042 - 164,619,957 (-)Ensembl
RefSeq Acc Id: ENST00000446413   ⟹   ENSP00000416786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2164,497,008 - 164,621,478 (-)Ensembl
RefSeq Acc Id: ENST00000469573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2164,508,663 - 164,568,484 (-)Ensembl
RefSeq Acc Id: ENST00000488342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2164,492,812 - 164,621,392 (-)Ensembl
RefSeq Acc Id: ENST00000497306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2164,492,822 - 164,497,052 (-)Ensembl
RefSeq Acc Id: NM_001303422   ⟹   NP_001290351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,492,417 - 164,568,495 (-)NCBI
CHM1_12165,354,810 - 165,430,926 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004490   ⟹   NP_004481
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,492,417 - 164,621,482 (-)NCBI
GRCh372165,349,323 - 165,478,360 (-)ENTREZGENE
Build 362165,057,569 - 165,186,606 (-)NCBI Archive
HuRef2157,231,772 - 157,360,824 (-)ENTREZGENE
CHM1_12165,355,217 - 165,484,258 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511022   ⟹   XP_011509324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,508,514 - 164,621,482 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003899   ⟹   XP_016859388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,492,813 - 164,568,484 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452815   ⟹   XP_024308583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,492,813 - 164,622,959 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452816   ⟹   XP_024308584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,492,813 - 164,621,008 (-)NCBI
Sequence:
RefSeq Acc Id: XR_427085
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,497,374 - 164,621,482 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004481   ⟸   NM_004490
- Peptide Label: isoform 1
- UniProtKB: Q14449 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290351   ⟸   NM_001303422
- Peptide Label: isoform 2
- UniProtKB: Q14449 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509324   ⟸   XM_011511022
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859388   ⟸   XM_017003899
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308583   ⟸   XM_024452815
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308584   ⟸   XM_024452816
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000401702   ⟸   ENST00000424693
RefSeq Acc Id: ENSP00000416786   ⟸   ENST00000446413
RefSeq Acc Id: ENSP00000263915   ⟸   ENST00000263915
Protein Domains
PH   Ras-associating   SH2

Promoters
RGD ID:6861894
Promoter ID:EPDNEW_H4112
Type:initiation region
Name:GRB14_1
Description:growth factor receptor bound protein 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4113  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,621,476 - 164,621,536EPDNEW
RGD ID:6861896
Promoter ID:EPDNEW_H4113
Type:initiation region
Name:GRB14_2
Description:growth factor receptor bound protein 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4112  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382164,622,439 - 164,622,499EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 copy number loss See cases [RCV000051003] Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 copy number loss See cases [RCV000054119] Chr2:163455290..166962322 [GRCh38]
Chr2:164311800..167818832 [GRCh37]
Chr2:164020046..167527078 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
NM_004490.2(GRB14):c.502G>A (p.Glu168Lys) single nucleotide variant Malignant melanoma [RCV000065146] Chr2:164527115 [GRCh38]
Chr2:165383625 [GRCh37]
Chr2:165091871 [NCBI36]
Chr2:2q24.3
not provided
NM_004490.2(GRB14):c.325-782T>A single nucleotide variant Lung cancer [RCV000091627] Chr2:164548598 [GRCh38]
Chr2:165405108 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1 copy number loss See cases [RCV000137581] Chr2:163419387..165682938 [GRCh38]
Chr2:164275897..166539448 [GRCh37]
Chr2:163984143..166247694 [NCBI36]
Chr2:2q24.3
pathogenic|likely pathogenic
GRCh38/hg38 2q24.3(chr2:164220427-164906646)x1 copy number loss See cases [RCV000137776] Chr2:164220427..164906646 [GRCh38]
Chr2:165076937..165763156 [GRCh37]
Chr2:164785183..165471402 [NCBI36]
Chr2:2q24.3
likely benign|uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
NM_004490.3(GRB14):c.1474C>T (p.Pro492Ser) single nucleotide variant not specified [RCV000239001] Chr2:164494433 [GRCh38]
Chr2:165350943 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 copy number loss not provided [RCV000585557] Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1
likely pathogenic
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)x3 copy number gain See cases [RCV000447420] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.3(chr2:165417233-166231299)x4 copy number gain See cases [RCV000511810] Chr2:165417233..166231299 [GRCh37]
Chr2:2q24.3
likely benign
GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 copy number loss See cases [RCV000511424] Chr2:164366067..169069454 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:165065255-166517749) copy number gain See cases [RCV000511060] Chr2:165065255..166517749 [GRCh37]
Chr2:2q24.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele deletion not provided [RCV000768457] Chr2:162485583..168295583 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
GRCh37/hg19 2q24.3(chr2:165369716-165537572)x1 copy number loss not provided [RCV000762698] Chr2:165369716..165537572 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004490.3(GRB14):c.1077C>T (p.Gly359=) single nucleotide variant not provided [RCV000960235] Chr2:164502282 [GRCh38]
Chr2:165358792 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
GRCh37/hg19 2q24.2-24.3(chr2:163430120-165353676)x3 copy number gain not provided [RCV001005350] Chr2:163430120..165353676 [GRCh37]
Chr2:2q24.2-24.3
uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4565 AgrOrtholog
COSMIC GRB14 COSMIC
Ensembl Genes ENSG00000115290 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263915 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401702 UniProtKB/TrEMBL
  ENSP00000416786 UniProtKB/TrEMBL
Ensembl Transcript ENST00000263915 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424693 UniProtKB/TrEMBL
  ENST00000446413 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115290 GTEx
HGNC ID HGNC:4565 ENTREZGENE
Human Proteome Map GRB14 Human Proteome Map
InterPro BPS-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRB/APBB1IP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Grb14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Grb14_SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_APBB1IP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2888 UniProtKB/Swiss-Prot
NCBI Gene 2888 ENTREZGENE
OMIM 601524 OMIM
PANTHER PTHR11243 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11243:SF22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00788 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28961 PharmGKB
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00314 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JD37_HUMAN UniProtKB/TrEMBL
  C9JLT6_HUMAN UniProtKB/TrEMBL
  GRB14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53QM9_HUMAN UniProtKB/TrEMBL
  Q53QQ0_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z7F9 UniProtKB/Swiss-Prot
  Q7Z6I1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 GRB14  growth factor receptor bound protein 14    growth factor receptor-bound protein 14  Symbol and/or name change 5135510 APPROVED