GUCY1B1 (guanylate cyclase 1 soluble subunit beta 1) - Rat Genome Database

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Gene: GUCY1B1 (guanylate cyclase 1 soluble subunit beta 1) Homo sapiens
Analyze
Symbol: GUCY1B1
Name: guanylate cyclase 1 soluble subunit beta 1
RGD ID: 731814
HGNC Page HGNC:4687
Description: Enables guanylate cyclase activity. Involved in cGMP biosynthetic process and nitric oxide-cGMP-mediated signaling. Located in cytosol. Part of guanylate cyclase complex, soluble. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: GC-S-beta-1; GC-SB3; GCS-beta-1; GCS-beta-3; guanylate cyclase 1 soluble subunit beta; guanylate cyclase 1, soluble, beta 3; guanylate cyclase soluble subunit beta-1; guanylate cyclase soluble subunit beta-3; GUC1B3; GUCB3; GUCSB3; GUCY1B3; soluble guanylate cyclase small subunit
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
GRCh384155,759,021 - 155,807,811 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4155,758,992 - 155,807,811 (+)EnsemblGRCh38hg38GRCh38
GRCh374156,680,173 - 156,728,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364156,888,572 - 156,947,506 (+)NCBINCBI36Build 36hg18NCBI36
Build 344157,037,819 - 157,085,661NCBI
Celera4154,011,736 - 154,060,401 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4152,419,159 - 152,467,730 (+)NCBIHuRef
CHM1_14156,657,845 - 156,706,460 (+)NCBICHM1_1
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
3',5'-cyclic GMP  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
apocynin  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
BQ 123  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cinaciguat  (EXP,ISO)
cisplatin  (EXP)
cocaine  (ISO)
cyanocob(III)alamin  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diethyl malate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ferroheme b  (EXP,ISO)
folic acid  (ISO)
formaldehyde  (EXP)
glyphosate  (ISO)
GTP  (EXP)
heme b  (EXP,ISO)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
hydroxocobalamin  (EXP)
indinavir  (ISO)
ketamine  (ISO)
L-ascorbic acid  (ISO)
lamivudine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
menadione  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
mitoxantrone  (EXP)
nitrates  (ISO)
nitric oxide  (EXP)
nitroglycerin  (EXP,ISO)
nitroprusside  (ISO)
NONOate(1-)  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
pentanal  (EXP)
phenobarbital  (ISO)
potassium hexacyanoferrate(3-)  (EXP)
propanal  (EXP)
protoporphyrin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
saquinavir  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
succimer  (EXP)
sunitinib  (EXP)
titanium dioxide  (EXP,ISO)
toluene  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
zidovudine  (ISO)
zinc protoporphyrin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Reduced expression of NO-sensitive guanylyl cyclase in reactive astrocytes of Alzheimer disease, Creutzfeldt-Jakob disease, and multiple sclerosis brains. Baltrons MA, etal., Neurobiol Dis. 2004 Dec;17(3):462-72.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1352257   PMID:1680753   PMID:8097486   PMID:8613461   PMID:8889548   PMID:9742212   PMID:10977868   PMID:11572861   PMID:12477932   PMID:12676772   PMID:15381706   PMID:15489334  
PMID:16528291   PMID:18029348   PMID:19478201   PMID:20024606   PMID:20063108   PMID:20105301   PMID:21832049   PMID:21858179   PMID:21873635   PMID:21909110   PMID:21909115   PMID:22223482  
PMID:22426988   PMID:22690686   PMID:23179318   PMID:23505436   PMID:24366813   PMID:24666322   PMID:24733395   PMID:26876536   PMID:27279362   PMID:27609421   PMID:28514442   PMID:29024896  
PMID:29443612   PMID:31514202   PMID:31617661   PMID:31645439   PMID:33430449   PMID:33961781   PMID:34672954   PMID:34745083   PMID:35914814   PMID:37931956  


Genomics

Comparative Map Data
GUCY1B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384155,759,021 - 155,807,811 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4155,758,992 - 155,807,811 (+)EnsemblGRCh38hg38GRCh38
GRCh374156,680,173 - 156,728,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364156,888,572 - 156,947,506 (+)NCBINCBI36Build 36hg18NCBI36
Build 344157,037,819 - 157,085,661NCBI
Celera4154,011,736 - 154,060,401 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4152,419,159 - 152,467,730 (+)NCBIHuRef
CHM1_14156,657,845 - 156,706,460 (+)NCBICHM1_1
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBIT2T-CHM13v2.0
Gucy1b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39381,939,311 - 81,982,018 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl381,939,313 - 81,981,996 (-)EnsemblGRCm39 Ensembl
GRCm38382,032,004 - 82,074,711 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl382,032,006 - 82,074,689 (-)EnsemblGRCm38mm10GRCm38
MGSCv37381,835,926 - 81,878,633 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36382,117,933 - 82,160,612 (-)NCBIMGSCv36mm8
Celera382,056,852 - 82,099,541 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map335.97NCBI
Gucy1b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82169,646,897 - 169,697,060 (-)NCBIGRCr8
mRatBN7.22167,348,824 - 167,398,983 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2167,348,825 - 167,398,916 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2174,554,022 - 174,597,271 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02172,575,260 - 172,618,509 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02167,162,845 - 167,206,099 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02180,976,939 - 181,026,001 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2180,976,939 - 181,026,024 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02200,384,721 - 200,433,787 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42173,683,153 - 173,735,298 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12173,633,259 - 173,685,404 (-)NCBI
Celera2161,378,505 - 161,428,991 (-)NCBICelera
Cytogenetic Map2q34NCBI
Gucy1b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547111,303,242 - 11,351,190 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547111,303,478 - 11,349,512 (-)NCBIChiLan1.0ChiLan1.0
GUCY1B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23153,670,796 - 153,719,476 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14154,026,397 - 154,075,072 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04148,124,643 - 148,173,315 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14159,942,017 - 159,990,511 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4159,942,017 - 159,990,511 (+)Ensemblpanpan1.1panPan2
GUCY1B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11553,266,243 - 53,312,109 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1553,265,350 - 53,312,111 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1553,601,513 - 53,647,751 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01553,972,715 - 54,019,854 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1553,972,653 - 54,020,379 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11553,226,121 - 53,272,692 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01553,335,788 - 53,382,060 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01553,649,434 - 53,695,985 (+)NCBIUU_Cfam_GSD_1.0
Gucy1b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530137,076,967 - 37,119,457 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365762,427,416 - 2,470,072 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365762,427,451 - 2,469,946 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GUCY1B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl844,544,179 - 44,604,687 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1844,544,364 - 44,604,690 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2846,747,661 - 46,765,506 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GUCY1B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17102,332,711 - 102,381,250 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7102,332,719 - 102,381,251 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603781,990,521 - 82,039,073 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gucy1b1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248482,462,104 - 2,508,983 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248482,462,240 - 2,508,197 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GUCY1B1
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1 copy number loss See cases [RCV000054075] Chr4:155605468..156026047 [GRCh38]
Chr4:156526620..156947199 [GRCh37]
Chr4:156746070..157166649 [NCBI36]
Chr4:4q32.1		 uncertain significance
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 copy number gain See cases [RCV000143617] Chr4:152500649..155788803 [GRCh38]
Chr4:153421801..156709955 [GRCh37]
Chr4:153641251..156929405 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
NM_000857.5(GUCY1B1):c.1710A>T (p.Arg570Ser) single nucleotide variant not specified [RCV004317848] Chr4:155805103 [GRCh38]
Chr4:156726255 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:156496866-156956631)x1 copy number loss See cases [RCV000448910] Chr4:156496866..156956631 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_000857.5(GUCY1B1):c.1459G>A (p.Glu487Lys) single nucleotide variant not specified [RCV004301069] Chr4:155803669 [GRCh38]
Chr4:156724821 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.901A>G (p.Ile301Val) single nucleotide variant not specified [RCV004285792] Chr4:155796434 [GRCh38]
Chr4:156717586 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 copy number loss not provided [RCV000682474] Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:156416305-156713357)x3 copy number gain not provided [RCV000744066] Chr4:156416305..156713357 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4q32.1(chr4:156509941-156955213)x1 copy number loss not provided [RCV000744067] Chr4:156509941..156955213 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 copy number loss not provided [RCV001005606] Chr4:153061243..157994448 [GRCh37]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1 copy number loss not provided [RCV000849517] Chr4:156496866..156952792 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 copy number loss not provided [RCV000848578] Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1		 uncertain significance
GRCh37/hg19 4q32.1(chr4:156678642-156745915)x3 copy number gain not provided [RCV000846561] Chr4:156678642..156745915 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1 copy number loss not provided [RCV001005608] Chr4:156578400..158404825 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1(chr4:156610216-156842193)x3 copy number gain not provided [RCV000846404] Chr4:156610216..156842193 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
NM_000857.5(GUCY1B1):c.620G>A (p.Arg207His) single nucleotide variant not specified [RCV004292352] Chr4:155793980 [GRCh38]
Chr4:156715132 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
GRCh37/hg19 4q32.1(chr4:156496866-156956631) copy number loss not specified [RCV002053464] Chr4:156496866..156956631 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.641G>T (p.Cys214Phe) single nucleotide variant not specified [RCV004322919] Chr4:155794001 [GRCh38]
Chr4:156715153 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1(chr4:156496867-156951937)x1 copy number loss not provided [RCV002472785] Chr4:156496867..156951937 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1343A>G (p.Asn448Ser) single nucleotide variant not specified [RCV004257710] Chr4:155802509 [GRCh38]
Chr4:156723661 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.61G>A (p.Val21Met) single nucleotide variant not specified [RCV004269390] Chr4:155759844 [GRCh38]
Chr4:156680996 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
GRCh37/hg19 4q32.1(chr4:156505079-156705026)x1 copy number loss not specified [RCV003986490] Chr4:156505079..156705026 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_000857.5(GUCY1B1):c.790A>T (p.Ser264Cys) single nucleotide variant not specified [RCV004388667] Chr4:155795404 [GRCh38]
Chr4:156716556 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.253A>G (p.Thr85Ala) single nucleotide variant not specified [RCV004388666] Chr4:155777598 [GRCh38]
Chr4:156698750 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1295C>T (p.Ala432Val) single nucleotide variant not specified [RCV004388657] Chr4:155802461 [GRCh38]
Chr4:156723613 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1424T>C (p.Val475Ala) single nucleotide variant not specified [RCV004388658] Chr4:155803634 [GRCh38]
Chr4:156724786 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1480C>G (p.Arg494Gly) single nucleotide variant not specified [RCV004388659] Chr4:155803690 [GRCh38]
Chr4:156724842 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1486A>C (p.Ile496Leu) single nucleotide variant not specified [RCV004388660] Chr4:155803696 [GRCh38]
Chr4:156724848 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1525C>G (p.Gln509Glu) single nucleotide variant not specified [RCV004388662] Chr4:155803735 [GRCh38]
Chr4:156724887 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1543G>A (p.Glu515Lys) single nucleotide variant not specified [RCV004388663] Chr4:155803753 [GRCh38]
Chr4:156724905 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1731T>G (p.Asn577Lys) single nucleotide variant not specified [RCV004388664] Chr4:155805124 [GRCh38]
Chr4:156726276 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.1832C>T (p.Thr611Ile) single nucleotide variant not specified [RCV004388665] Chr4:155805225 [GRCh38]
Chr4:156726377 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467) copy number loss not provided [RCV004555213] Chr4:153986026..156952467 [GRCh38]
Chr4:4q31.3-32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.746G>A (p.Ser249Asn) single nucleotide variant not specified [RCV004635157] Chr4:155795360 [GRCh38]
Chr4:156716512 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.722C>T (p.Pro241Leu) single nucleotide variant not specified [RCV004635156] Chr4:155794082 [GRCh38]
Chr4:156715234 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_000857.5(GUCY1B1):c.180T>A (p.Asn60Lys) single nucleotide variant not specified [RCV004624093] Chr4:155777525 [GRCh38]
Chr4:156698677 [GRCh37]
Chr4:4q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1498
Count of miRNA genes:447
Interacting mature miRNAs:475
Transcripts:ENST00000264424, ENST00000502959, ENST00000503520, ENST00000505154, ENST00000505764, ENST00000507146, ENST00000513437
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597027157GWAS1123231_Hsystolic blood pressure QTL GWAS1123231 (human)2e-08systolic blood pressuresystolic blood pressure (CMO:0000004)4155762129155762130Human
597581100GWAS1637960_Htype 2 diabetes mellitus QTL GWAS1637960 (human)2e-11type 2 diabetes mellitus4155781932155781933Human
597342056GWAS1438130_Hosteoarthritis QTL GWAS1438130 (human)3e-09osteoarthritis4155791184155791185Human
597591850GWAS1648710_HEosinophilia QTL GWAS1648710 (human)4e-11Eosinophilia4155797505155797506Human
597420961GWAS1517035_Hsystolic blood pressure QTL GWAS1517035 (human)3e-10systolic blood pressuresystolic blood pressure (CMO:0000004)4155797053155797054Human
597086221GWAS1182295_Htype 2 diabetes mellitus QTL GWAS1182295 (human)4e-09type 2 diabetes mellitus4155776632155776633Human
597027515GWAS1123589_Hmean arterial pressure QTL GWAS1123589 (human)5e-08mean arterial pressuremean arterial blood pressure (CMO:0000009)4155762129155762130Human
597088728GWAS1184802_Hcoronary artery disease QTL GWAS1184802 (human)3e-08coronary artery disease4155764503155764504Human
597463394GWAS1559468_Hdiastolic blood pressure QTL GWAS1559468 (human)1e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)4155783874155783875Human

Markers in Region
SHGC-59802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,728,515 - 156,728,762UniSTSGRCh37
Build 364156,947,965 - 156,948,212RGDNCBI36
Celera4154,060,133 - 154,060,380RGD
Cytogenetic Map4q31.3-q33UniSTS
HuRef4152,467,462 - 152,467,709UniSTS
GeneMap99-GB4 RH Map4646.09UniSTS
G62065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,728,285 - 156,728,450UniSTSGRCh37
Build 364156,947,735 - 156,947,900RGDNCBI36
Celera4154,059,903 - 154,060,068RGD
Cytogenetic Map4q31.3-q33UniSTS
HuRef4152,467,232 - 152,467,397UniSTS
STS-X66533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,727,582 - 156,727,822UniSTSGRCh37
Build 364156,947,032 - 156,947,272RGDNCBI36
Celera4154,059,200 - 154,059,440RGD
Cytogenetic Map4q31.3-q33UniSTS
HuRef4152,466,529 - 152,466,769UniSTS
GeneMap99-GB4 RH Map4642.76UniSTS
WI-19177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,727,668 - 156,727,922UniSTSGRCh37
Build 364156,947,118 - 156,947,372RGDNCBI36
Celera4154,059,286 - 154,059,540RGD
Cytogenetic Map4q31.3-q33UniSTS
HuRef4152,466,615 - 152,466,869UniSTS
GeneMap99-GB4 RH Map4644.58UniSTS
Whitehead-RH Map4696.6UniSTS
GUCY1B3__6678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,727,553 - 156,728,120UniSTSGRCh37
Build 364156,947,003 - 156,947,570RGDNCBI36
Celera4154,059,171 - 154,059,738RGD
HuRef4152,466,500 - 152,467,067UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2344 2788 2233 4930 1720 2309 4 619 1825 460 2232 7121 6361 43 3725 1 849 1715 1579 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI189698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY034778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM673988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB536632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC317249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC317683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC342619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264424   ⟹   ENSP00000264424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,759,021 - 155,807,811 (+)Ensembl
Ensembl Acc Id: ENST00000502959   ⟹   ENSP00000426786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,759,021 - 155,806,618 (+)Ensembl
Ensembl Acc Id: ENST00000503520   ⟹   ENSP00000420842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,759,090 - 155,806,548 (+)Ensembl
Ensembl Acc Id: ENST00000505154   ⟹   ENSP00000427226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,758,992 - 155,806,790 (+)Ensembl
Ensembl Acc Id: ENST00000505764   ⟹   ENSP00000426319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,759,026 - 155,806,738 (+)Ensembl
Ensembl Acc Id: ENST00000507146   ⟹   ENSP00000422313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,759,031 - 155,806,833 (+)Ensembl
Ensembl Acc Id: ENST00000513437   ⟹   ENSP00000425065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,759,459 - 155,806,824 (+)Ensembl
Ensembl Acc Id: ENST00000652626   ⟹   ENSP00000498984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4155,758,996 - 155,807,774 (+)Ensembl
RefSeq Acc Id: NM_000857   ⟹   NP_000848
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
GRCh374156,680,126 - 156,728,783 (+)ENTREZGENE
Build 364156,888,572 - 156,947,506 (+)NCBI Archive
HuRef4152,419,159 - 152,467,730 (+)ENTREZGENE
CHM1_14156,657,844 - 156,706,471 (+)NCBI
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291951   ⟹   NP_001278880
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
CHM1_14156,657,844 - 156,706,471 (+)NCBI
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291952   ⟹   NP_001278881
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
CHM1_14156,657,844 - 156,706,471 (+)NCBI
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291953   ⟹   NP_001278882
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
CHM1_14156,657,844 - 156,706,471 (+)NCBI
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291954   ⟹   NP_001278883
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
CHM1_14156,657,844 - 156,706,471 (+)NCBI
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291955   ⟹   NP_001278884
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
CHM1_14156,657,844 - 156,706,471 (+)NCBI
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531901   ⟹   XP_011530203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008131   ⟹   XP_016863620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,021 - 155,807,811 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054349846   ⟹   XP_054205821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
RefSeq Acc Id: XM_054349847   ⟹   XP_054205822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04159,091,817 - 159,140,607 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000848 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278880 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278881 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278882 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278883 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278884 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530203 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205821 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205822 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB94877 (Get FASTA)   NCBI Sequence Viewer  
  AAH47620 (Get FASTA)   NCBI Sequence Viewer  
  BAG37638 (Get FASTA)   NCBI Sequence Viewer  
  BAH12412 (Get FASTA)   NCBI Sequence Viewer  
  BAH13171 (Get FASTA)   NCBI Sequence Viewer  
  BAH13254 (Get FASTA)   NCBI Sequence Viewer  
  BAH14315 (Get FASTA)   NCBI Sequence Viewer  
  CAA47144 (Get FASTA)   NCBI Sequence Viewer  
  EAX04888 (Get FASTA)   NCBI Sequence Viewer  
  EAX04889 (Get FASTA)   NCBI Sequence Viewer  
  EAX04890 (Get FASTA)   NCBI Sequence Viewer  
  EAX04891 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264424
  ENSP00000264424.8
  ENSP00000420842
  ENSP00000420842.1
  ENSP00000422313
  ENSP00000422313.1
  ENSP00000425065.1
  ENSP00000426319
  ENSP00000426319.1
  ENSP00000426786
  ENSP00000426786.1
  ENSP00000427226
  ENSP00000427226.1
  ENSP00000498984.1
GenBank Protein Q02153 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000848   ⟸   NM_000857
- Peptide Label: isoform 2
- UniProtKB: Q02153 (UniProtKB/Swiss-Prot),   B7Z426 (UniProtKB/Swiss-Prot),   Q86WY5 (UniProtKB/Swiss-Prot),   B2RCP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278882   ⟸   NM_001291953
- Peptide Label: isoform 4
- UniProtKB: B7Z9H9 (UniProtKB/TrEMBL),   D6RC99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278881   ⟸   NM_001291952
- Peptide Label: isoform 3
- UniProtKB: B2RCP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278880   ⟸   NM_001291951
- Peptide Label: isoform 1
- UniProtKB: B7Z6G8 (UniProtKB/TrEMBL),   E9PCN2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278883   ⟸   NM_001291954
- Peptide Label: isoform 5
- UniProtKB: B2RCP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278884   ⟸   NM_001291955
- Peptide Label: isoform 6
- UniProtKB: B7Z685 (UniProtKB/TrEMBL),   B7Z9H9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530203   ⟸   XM_011531901
- Peptide Label: isoform X1
- UniProtKB: B2RCP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863620   ⟸   XM_017008131
- Peptide Label: isoform X2
- UniProtKB: B7Z9H9 (UniProtKB/TrEMBL),   D6RC99 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000426786   ⟸   ENST00000502959
Ensembl Acc Id: ENSP00000420842   ⟸   ENST00000503520
Ensembl Acc Id: ENSP00000426319   ⟸   ENST00000505764
Ensembl Acc Id: ENSP00000427226   ⟸   ENST00000505154
Ensembl Acc Id: ENSP00000422313   ⟸   ENST00000507146
Ensembl Acc Id: ENSP00000498984   ⟸   ENST00000652626
Ensembl Acc Id: ENSP00000425065   ⟸   ENST00000513437
Ensembl Acc Id: ENSP00000264424   ⟸   ENST00000264424
RefSeq Acc Id: XP_054205821   ⟸   XM_054349846
- Peptide Label: isoform X1
- UniProtKB: B2RCP1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205822   ⟸   XM_054349847
- Peptide Label: isoform X2
- UniProtKB: D6RC99 (UniProtKB/TrEMBL),   B7Z9H9 (UniProtKB/TrEMBL)
Protein Domains
Guanylate cyclase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02153-F1-model_v2 AlphaFold Q02153 1-619 view protein structure

Promoters
RGD ID:6868738
Promoter ID:EPDNEW_H7534
Type:initiation region
Name:GUCY1B3_1
Description:guanylate cyclase 1 soluble subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7535  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,039 - 155,759,099EPDNEW
RGD ID:6868740
Promoter ID:EPDNEW_H7535
Type:initiation region
Name:GUCY1B3_2
Description:guanylate cyclase 1 soluble subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7534  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,759,181 - 155,759,241EPDNEW
RGD ID:6802355
Promoter ID:HG_KWN:49344
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000264424,   NM_000857,   UC003IPD.1,   UC010IQF.1,   UC010IQG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364156,899,456 - 156,899,956 (+)MPROMDB
RGD ID:6814743
Promoter ID:HG_XEF:6156
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001011632,   NM_001018032,   NM_001018034,   NM_001032556,   NM_001091723,   NM_001104653,   NM_001161796,   NM_012769,   NM_017469,   NM_079864,   NM_174641
Position:
Human AssemblyChrPosition (strand)Source
Build 364156,900,309 - 156,900,809 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4687 AgrOrtholog
COSMIC GUCY1B1 COSMIC
Ensembl Genes ENSG00000061918 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264424 ENTREZGENE
  ENST00000264424.13 UniProtKB/Swiss-Prot
  ENST00000502959 ENTREZGENE
  ENST00000502959.5 UniProtKB/TrEMBL
  ENST00000503520 ENTREZGENE
  ENST00000503520.5 UniProtKB/Swiss-Prot
  ENST00000505154 ENTREZGENE
  ENST00000505154.5 UniProtKB/TrEMBL
  ENST00000505764 ENTREZGENE
  ENST00000505764.5 UniProtKB/Swiss-Prot
  ENST00000507146 ENTREZGENE
  ENST00000507146.5 UniProtKB/TrEMBL
  ENST00000513437.1 UniProtKB/TrEMBL
  ENST00000652626.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.450.260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000061918 GTEx
HGNC ID HGNC:4687 ENTREZGENE
Human Proteome Map GUCY1B1 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  H-NOX_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Heme_NO-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOB_dom_associated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOB_dom_associated_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NO_sig/Golgi_transp_ligand-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2983 UniProtKB/Swiss-Prot
NCBI Gene 2983 ENTREZGENE
OMIM 139397 OMIM
PANTHER GUANYLATE CYCLASE SOLUBLE SUBUNIT BETA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE CYCLASE SOLUBLE SUBUNIT BETA-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29068 PharmGKB
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF111126 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C1B9_HUMAN UniProtKB/TrEMBL
  B2RCP1 ENTREZGENE, UniProtKB/TrEMBL
  B7Z426 ENTREZGENE
  B7Z685 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6G8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z9H9 ENTREZGENE, UniProtKB/TrEMBL
  D6RC99 ENTREZGENE, UniProtKB/TrEMBL
  E9PCN2 ENTREZGENE, UniProtKB/TrEMBL
  GCYB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86WY5 ENTREZGENE
UniProt Secondary B7Z426 UniProtKB/Swiss-Prot
  Q86WY5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-11-28 GUCY1B1  guanylate cyclase 1 soluble subunit beta 1  GUCY1B3  guanylate cyclase 1 soluble subunit beta  Symbol and/or name change 5135510 APPROVED
2016-06-28 GUCY1B3  guanylate cyclase 1 soluble subunit beta  GUCY1B3  guanylate cyclase 1, soluble, beta 3  Symbol and/or name change 5135510 APPROVED