GRP (gastrin releasing peptide) - Rat Genome Database

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Gene: GRP (gastrin releasing peptide) Homo sapiens
Analyze
Symbol: GRP
Name: gastrin releasing peptide
RGD ID: 737598
HGNC Page HGNC:4605
Description: Enables neuropeptide hormone activity. Acts upstream of or within neuropeptide signaling pathway. Located in extracellular space. Biomarker of several diseases, including colorectal cancer; congestive heart failure; kidney failure; lung disease (multiple); and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BN; bombesin; gastrin-releasing peptide; GRP-10; neuromedin C; pre-progastrin releasing peptide; prepro-GRP; preproGRP; proGRP; testicular tissue protein Li 103
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,219,189 - 59,230,771 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,220,158 - 59,230,774 (+)EnsemblGRCh38hg38GRCh38
GRCh371856,887,390 - 56,898,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,038,380 - 55,048,983 (+)NCBINCBI36Build 36hg18NCBI36
Build 341855,038,379 - 55,048,980NCBI
Celera1853,605,282 - 53,615,885 (+)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,595,537 - 53,606,136 (+)NCBIHuRef
CHM1_11856,882,622 - 56,893,227 (+)NCBICHM1_1
T2T-CHM13v2.01859,420,451 - 59,432,025 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Clinical Application of Pro-Gastrin-Releasing Peptide. Fang L, etal., Clin Lab. 2018 Jul 1;64(7):1259-1268. doi: 10.7754/Clin.Lab.2018.180316.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Regulatory peptides in the plasma of patients with chronic cardiac failure at rest and during exercise. Nicholls DP, etal., Eur Heart J. 1992 Oct;13(10):1399-404. doi: 10.1093/oxfordjournals.eurheartj.a060073.
4. Inhibition of Gastrin-Releasing Peptide Attenuates Phosphate-Induced Vascular Calcification. Park HJ, etal., Cells. 2020 Mar 17;9(3):737. doi: 10.3390/cells9030737.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Pro-gastrin-releasing peptide and outcome in patients with heart failure and anaemia: results from the RED-HF study. Ueland T, etal., ESC Heart Fail. 2018 Dec;5(6):1052-1059. doi: 10.1002/ehf2.12312. Epub 2018 Aug 25.
Additional References at PubMed
PMID:1557184   PMID:3001723   PMID:3003116   PMID:3027901   PMID:3027902   PMID:3211139   PMID:6207529   PMID:7838118   PMID:8008632   PMID:8137267   PMID:8756537   PMID:10657515  
PMID:11278902   PMID:11696365   PMID:11906707   PMID:11960700   PMID:12021405   PMID:12474049   PMID:12477932   PMID:12820318   PMID:12820319   PMID:13679857   PMID:14764456   PMID:15203211  
PMID:15489334   PMID:15638385   PMID:15664365   PMID:15750618   PMID:15849504   PMID:15899028   PMID:16641105   PMID:16754659   PMID:16909108   PMID:16920698   PMID:18240029   PMID:18289674  
PMID:18350254   PMID:18452185   PMID:19086053   PMID:19357287   PMID:19506400   PMID:19907206   PMID:20468064   PMID:20596631   PMID:20945407   PMID:21270509   PMID:21281799   PMID:21415235  
PMID:21529988   PMID:21873635   PMID:22202166   PMID:22261454   PMID:22300752   PMID:22399443   PMID:22411014   PMID:23353988   PMID:23379566   PMID:23608754   PMID:23615431   PMID:23924923  
PMID:24039782   PMID:24108003   PMID:24375395   PMID:24901518   PMID:24912045   PMID:26560853   PMID:26730601   PMID:26886220   PMID:27542219   PMID:27639644   PMID:27762319   PMID:28088445  
PMID:28230031   PMID:28351312   PMID:28432443   PMID:28600477   PMID:28967066   PMID:29145241   PMID:29729229   PMID:29945313   PMID:29989303   PMID:31091854   PMID:31264078   PMID:31412142  
PMID:31877416   PMID:31887795   PMID:32045291   PMID:32296183   PMID:32552754   PMID:32791134   PMID:33860650   PMID:37088873   PMID:37409771  


Genomics

Comparative Map Data
GRP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,219,189 - 59,230,771 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,220,158 - 59,230,774 (+)EnsemblGRCh38hg38GRCh38
GRCh371856,887,390 - 56,898,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,038,380 - 55,048,983 (+)NCBINCBI36Build 36hg18NCBI36
Build 341855,038,379 - 55,048,980NCBI
Celera1853,605,282 - 53,615,885 (+)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,595,537 - 53,606,136 (+)NCBIHuRef
CHM1_11856,882,622 - 56,893,227 (+)NCBICHM1_1
T2T-CHM13v2.01859,420,451 - 59,432,025 (+)NCBIT2T-CHM13v2.0
Grp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391866,005,826 - 66,019,670 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1866,005,891 - 66,019,667 (+)EnsemblGRCm39 Ensembl
GRCm381865,872,751 - 65,886,599 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1865,872,820 - 65,886,596 (+)EnsemblGRCm38mm10GRCm38
MGSCv371866,033,148 - 66,046,233 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361865,998,863 - 66,011,948 (+)NCBIMGSCv36mm8
Celera1867,148,374 - 67,161,630 (+)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1838.98NCBI
Grp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81861,658,655 - 61,672,037 (+)NCBIGRCr8
mRatBN7.21859,388,679 - 59,402,061 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1859,388,274 - 59,402,061 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1861,481,572 - 61,495,017 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01862,180,256 - 62,193,696 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01860,008,373 - 60,021,747 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01861,563,458 - 61,576,818 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1861,563,053 - 61,576,818 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01860,759,485 - 60,772,845 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41862,162,526 - 62,176,328 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11862,236,136 - 62,249,529 (+)NCBI
Celera1857,511,148 - 57,523,903 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Grp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540243,382,552 - 43,393,463 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540243,382,608 - 43,393,452 (+)NCBIChiLan1.0ChiLan1.0
GRP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21776,763,081 - 76,776,923 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11862,455,695 - 62,469,561 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01852,614,169 - 52,626,427 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11855,941,405 - 55,953,188 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1855,942,263 - 55,953,188 (+)Ensemblpanpan1.1panPan2
GRP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1116,974,818 - 16,987,578 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl116,975,113 - 16,987,531 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha117,949,830 - 17,962,541 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0116,851,713 - 16,864,426 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl116,851,715 - 16,864,617 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1116,887,063 - 16,899,774 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0116,807,873 - 16,820,608 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0117,069,404 - 17,082,115 (-)NCBIUU_Cfam_GSD_1.0
Grp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494430,237,465 - 30,248,354 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364975,476,800 - 5,487,358 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364975,473,293 - 5,487,344 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1161,708,812 - 161,721,782 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11161,708,815 - 161,721,986 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21179,286,730 - 179,292,302 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GRP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11820,496,201 - 20,508,551 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1820,496,516 - 20,507,153 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660605,077,640 - 5,091,595 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Grp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247924,623,097 - 4,633,570 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247924,623,082 - 4,633,545 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GRP
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3 copy number gain See cases [RCV000136915] Chr18:58939804..59720672 [GRCh38]
Chr18:56607036..57387904 [GRCh37]
Chr18:54758016..55538884 [NCBI36]
Chr18:18q21.32		 uncertain significance
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.32(chr18:56589023-57506331)x3 copy number gain See cases [RCV000445786] Chr18:56589023..57506331 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q21.32(chr18:56623382-57545665)x3 copy number gain See cases [RCV000511151] Chr18:56623382..57545665 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.32(chr18:56590414-57506331)x3 copy number gain not provided [RCV000684015] Chr18:56590414..57506331 [GRCh37]
Chr18:18q21.32		 uncertain significance
NC_000018.9:g.(?_55225777)_(56940458_?)dup duplication not provided [RCV000821281] Chr18:57558545..59273226 [GRCh38]
Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.32(chr18:56877489-56915473)x3 copy number gain not provided [RCV000752354] Chr18:56877489..56915473 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_002091.5(GRP):c.330G>T (p.Ser110=) single nucleotide variant not provided [RCV000953591] Chr18:59225682 [GRCh38]
Chr18:56892914 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966) copy number loss Cholestasis [RCV003236725] Chr18:55020078..56892966 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NC_000018.9:g.(?_55225777)_(56940458_?)del deletion not provided [RCV001339457] Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NC_000018.9:g.(?_55225777)_(56940458_?)dup duplication not provided [RCV001323676] Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NC_000018.9:g.(?_55217944)_(58039582_?)del deletion not provided [RCV003120789] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
NC_000018.9:g.(?_55217944)_(58040587_?)dup duplication not provided [RCV001922994] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
NC_000018.9:g.(?_55217944)_(58039582_?)dup duplication Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance|no classifications from unflagged records
NC_000018.9:g.(?_55217944)_(58040587_?)del deletion Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|no classifications from unflagged records
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_002091.5(GRP):c.379A>G (p.Lys127Glu) single nucleotide variant not specified [RCV004136653] Chr18:59225731 [GRCh38]
Chr18:56892963 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.32(chr18:56750526-57003096)x3 copy number gain not provided [RCV002475807] Chr18:56750526..57003096 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_002091.5(GRP):c.220T>G (p.Tyr74Asp) single nucleotide variant not specified [RCV004202319] Chr18:59225572 [GRCh38]
Chr18:56892804 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_002091.5(GRP):c.109A>T (p.Met37Leu) single nucleotide variant not specified [RCV004396110] Chr18:59220374 [GRCh38]
Chr18:56887606 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_002091.5(GRP):c.40G>T (p.Val14Phe) single nucleotide variant not specified [RCV004396111] Chr18:59220305 [GRCh38]
Chr18:56887537 [GRCh37]
Chr18:18q21.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:442
Count of miRNA genes:129
Interacting mature miRNAs:132
Transcripts:ENST00000256857, ENST00000420468, ENST00000456142, ENST00000529320, ENST00000530323
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407050505GWAS699481_Hbody mass index QTL GWAS699481 (human)8e-08body mass indexbody mass index (BMI) (CMO:0000105)185922027559220276Human
407055934GWAS704910_Hvenous thromboembolism QTL GWAS704910 (human)0.000009venous thromboembolism185922568259225683Human

Markers in Region
STS-K02054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,897,734 - 56,897,978UniSTSGRCh37
Build 361855,048,714 - 55,048,958RGDNCBI36
Celera1853,615,616 - 53,615,860RGD
Cytogenetic Map18q21.1-q21.32UniSTS
HuRef1853,605,867 - 53,606,111UniSTS
GeneMap99-GB4 RH Map18404.94UniSTS
NCBI RH Map18745.0UniSTS
D18S1265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,897,712 - 56,897,986UniSTSGRCh37
Build 361855,048,692 - 55,048,966RGDNCBI36
Celera1853,615,594 - 53,615,868RGD
Cytogenetic Map18q21.1-q21.32UniSTS
HuRef1853,605,845 - 53,606,119UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
275 1959 849 723 3908 829 1452 1 114 275 85 1078 2407 2085 35 3067 494 1302 1117 32 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001012512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001012513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA989236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK903483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W01859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000256857   ⟹   ENSP00000256857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,220,158 - 59,230,771 (+)Ensembl
Ensembl Acc Id: ENST00000420468   ⟹   ENSP00000389696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,220,266 - 59,230,621 (+)Ensembl
Ensembl Acc Id: ENST00000456142   ⟹   ENSP00000397814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,225,492 - 59,230,774 (+)Ensembl
Ensembl Acc Id: ENST00000529320   ⟹   ENSP00000434101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,220,172 - 59,230,770 (+)Ensembl
Ensembl Acc Id: ENST00000530323   ⟹   ENSP00000431579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,225,667 - 59,230,766 (+)Ensembl
RefSeq Acc Id: NM_001012512   ⟹   NP_001012530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,220,158 - 59,230,771 (+)NCBI
GRCh371856,887,400 - 56,898,003 (+)ENTREZGENE
Build 361855,038,380 - 55,048,983 (+)NCBI Archive
HuRef1853,595,537 - 53,606,136 (+)ENTREZGENE
CHM1_11856,882,622 - 56,893,230 (+)NCBI
T2T-CHM13v2.01859,421,420 - 59,432,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001012513   ⟹   NP_001012531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,220,158 - 59,230,771 (+)NCBI
GRCh371856,887,400 - 56,898,003 (+)ENTREZGENE
Build 361855,038,380 - 55,048,983 (+)NCBI Archive
HuRef1853,595,537 - 53,606,136 (+)ENTREZGENE
CHM1_11856,882,622 - 56,893,230 (+)NCBI
T2T-CHM13v2.01859,421,420 - 59,432,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002091   ⟹   NP_002082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,220,158 - 59,230,771 (+)NCBI
GRCh371856,887,400 - 56,898,003 (+)ENTREZGENE
Build 361855,038,380 - 55,048,983 (+)NCBI Archive
HuRef1853,595,537 - 53,606,136 (+)ENTREZGENE
CHM1_11856,882,622 - 56,893,230 (+)NCBI
T2T-CHM13v2.01859,421,420 - 59,432,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525933   ⟹   XP_011524235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,219,189 - 59,230,771 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025712   ⟹   XP_016881201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,220,158 - 59,230,771 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025713   ⟹   XP_016881202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,220,158 - 59,230,771 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025714   ⟹   XP_016881203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,222,616 - 59,230,771 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054318545   ⟹   XP_054174520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,421,420 - 59,432,025 (+)NCBI
RefSeq Acc Id: XM_054318546   ⟹   XP_054174521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,421,420 - 59,432,025 (+)NCBI
RefSeq Acc Id: XM_054318547   ⟹   XP_054174522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,420,451 - 59,432,025 (+)NCBI
RefSeq Acc Id: XM_054318548   ⟹   XP_054174523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,423,878 - 59,432,025 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001012530 (Get FASTA)   NCBI Sequence Viewer  
  NP_001012531 (Get FASTA)   NCBI Sequence Viewer  
  NP_002082 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524235 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881201 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881202 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174520 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174521 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174522 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174523 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52610 (Get FASTA)   NCBI Sequence Viewer  
  AAA52611 (Get FASTA)   NCBI Sequence Viewer  
  AAA52612 (Get FASTA)   NCBI Sequence Viewer  
  AAA52613 (Get FASTA)   NCBI Sequence Viewer  
  AAD13990 (Get FASTA)   NCBI Sequence Viewer  
  AAD14116 (Get FASTA)   NCBI Sequence Viewer  
  AAH04488 (Get FASTA)   NCBI Sequence Viewer  
  AAP35449 (Get FASTA)   NCBI Sequence Viewer  
  AEE61014 (Get FASTA)   NCBI Sequence Viewer  
  BAD89418 (Get FASTA)   NCBI Sequence Viewer  
  EAW63091 (Get FASTA)   NCBI Sequence Viewer  
  EAW63092 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000256857
  ENSP00000256857.2
  ENSP00000389696
  ENSP00000389696.2
  ENSP00000397814.3
  ENSP00000431579.1
  ENSP00000434101
  ENSP00000434101.1
GenBank Protein P07492 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002082   ⟸   NM_002091
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q53YA0 (UniProtKB/Swiss-Prot),   Q14454 (UniProtKB/Swiss-Prot),   P81553 (UniProtKB/Swiss-Prot),   P07491 (UniProtKB/Swiss-Prot),   Q9BSY7 (UniProtKB/Swiss-Prot),   P07492 (UniProtKB/Swiss-Prot),   Q5FBX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001012530   ⟸   NM_001012512
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A140VJM7 (UniProtKB/TrEMBL),   Q5FBX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001012531   ⟸   NM_001012513
- Peptide Label: isoform 3 preproprotein
- UniProtKB: Q5FBX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524235   ⟸   XM_011525933
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016881201   ⟸   XM_017025712
- Peptide Label: isoform X1
- UniProtKB: Q5FBX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881202   ⟸   XM_017025713
- Peptide Label: isoform X2
- UniProtKB: Q5FBX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881203   ⟸   XM_017025714
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000431579   ⟸   ENST00000530323
Ensembl Acc Id: ENSP00000256857   ⟸   ENST00000256857
Ensembl Acc Id: ENSP00000397814   ⟸   ENST00000456142
Ensembl Acc Id: ENSP00000389696   ⟸   ENST00000420468
Ensembl Acc Id: ENSP00000434101   ⟸   ENST00000529320
RefSeq Acc Id: XP_054174522   ⟸   XM_054318547
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174520   ⟸   XM_054318545
- Peptide Label: isoform X1
- UniProtKB: Q5FBX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174521   ⟸   XM_054318546
- Peptide Label: isoform X2
- UniProtKB: Q5FBX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174523   ⟸   XM_054318548
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07492-F1-model_v2 AlphaFold P07492 1-148 view protein structure

Promoters
RGD ID:7237455
Promoter ID:EPDNEW_H24473
Type:multiple initiation site
Name:GRP_1
Description:gastrin releasing peptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24474  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,220,158 - 59,220,218EPDNEW
RGD ID:7237457
Promoter ID:EPDNEW_H24474
Type:initiation region
Name:GRP_2
Description:gastrin releasing peptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24473  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,220,324 - 59,220,384EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4605 AgrOrtholog
COSMIC GRP COSMIC
Ensembl Genes ENSG00000134443 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256857 ENTREZGENE
  ENST00000256857.7 UniProtKB/Swiss-Prot
  ENST00000420468 ENTREZGENE
  ENST00000420468.6 UniProtKB/Swiss-Prot
  ENST00000456142.3 UniProtKB/TrEMBL
  ENST00000529320 ENTREZGENE
  ENST00000529320.2 UniProtKB/Swiss-Prot
  ENST00000530323.1 UniProtKB/TrEMBL
GTEx ENSG00000134443 GTEx
HGNC ID HGNC:4605 ENTREZGENE
Human Proteome Map GRP Human Proteome Map
InterPro Bombesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2922 UniProtKB/Swiss-Prot
NCBI Gene 2922 ENTREZGENE
OMIM 137260 OMIM
PANTHER PTHR16866 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16866:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bombesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28999 PharmGKB
PROSITE BOMBESIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJM7 ENTREZGENE, UniProtKB/TrEMBL
  GRP_HUMAN UniProtKB/Swiss-Prot
  H0Y5C5_HUMAN UniProtKB/TrEMBL
  H0YCH3_HUMAN UniProtKB/TrEMBL
  P07491 ENTREZGENE
  P07492 ENTREZGENE
  P81553 ENTREZGENE
  Q14454 ENTREZGENE
  Q53YA0 ENTREZGENE
  Q5FBX9 ENTREZGENE, UniProtKB/TrEMBL
  Q6LDX5_HUMAN UniProtKB/TrEMBL
  Q9BSY7 ENTREZGENE
UniProt Secondary P07491 UniProtKB/Swiss-Prot
  P81553 UniProtKB/Swiss-Prot
  Q14454 UniProtKB/Swiss-Prot
  Q53YA0 UniProtKB/Swiss-Prot
  Q9BSY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 GRP  gastrin releasing peptide  GRP  gastrin-releasing peptide  Symbol and/or name change 5135510 APPROVED