PGRMC2 (progesterone receptor membrane component 2) - Rat Genome Database

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Gene: PGRMC2 (progesterone receptor membrane component 2) Homo sapiens
Analyze
Symbol: PGRMC2
Name: progesterone receptor membrane component 2
RGD ID: 1318787
HGNC Page HGNC:16089
Description: Enables heme binding activity. Involved in adipose tissue development. Located in endoplasmic reticulum and nuclear envelope.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DG6; membrane-associated progesterone receptor component 2; PMBP; progesterone membrane binding protein; steroid receptor protein DG6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh384128,269,242 - 128,287,813 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4128,269,237 - 128,288,829 (-)EnsemblGRCh38hg38GRCh38
GRCh374129,190,397 - 129,208,968 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364129,410,745 - 129,428,400 (-)NCBINCBI36Build 36hg18NCBI36
Build 344129,548,903 - 129,566,553NCBI
Celera4126,571,320 - 126,590,911 (-)NCBICelera
Cytogenetic Map4q28.2NCBI
HuRef4124,921,673 - 124,941,265 (-)NCBIHuRef
CHM1_14129,166,876 - 129,186,474 (-)NCBICHM1_1
T2T-CHM13v2.04131,573,342 - 131,591,912 (-)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)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bleomycin A5  (EXP)
bucladesine  (EXP)
cadmium atom  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
corn oil  (ISO)
coumestrol  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hypochlorous acid  (ISO)
ivermectin  (EXP)
medroxyprogesterone acetate  (EXP)
Mesaconitine  (ISO)
methoxychlor  (ISO)
Muraglitazar  (ISO)
nefazodone  (ISO)
ozone  (EXP)
paracetamol  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
resorcinol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
endomembrane system  (IBA)
endoplasmic reticulum  (IBA,IDA,IEA)
extracellular region  (IEA)
glutamatergic synapse  (ISO)
membrane  (HDA,IBA,IEA,TAS)
nuclear envelope  (IDA,IEA,TAS)
nucleoplasm  (TAS)
nucleus  (IEA)
synapse  (ISO)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9705155   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15702432   PMID:16344560   PMID:17081983   PMID:18818748   PMID:18976975   PMID:19019335   PMID:19527514  
PMID:19946888   PMID:20140262   PMID:20819778   PMID:21873635   PMID:22119785   PMID:22412018   PMID:22810586   PMID:22939629   PMID:23064006   PMID:23276631   PMID:23793472   PMID:23874603  
PMID:23970345   PMID:24711643   PMID:24927568   PMID:25266650   PMID:25468996   PMID:25921289   PMID:26186194   PMID:26618866   PMID:26638075   PMID:27173435   PMID:27432908   PMID:27599036  
PMID:27754849   PMID:27880917   PMID:28111073   PMID:28380382   PMID:28692057   PMID:29180619   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29513927   PMID:29568061   PMID:29911972  
PMID:30021884   PMID:30097533   PMID:30833792   PMID:31056421   PMID:31073040   PMID:31177093   PMID:31536960   PMID:31616248   PMID:31723608   PMID:31732153   PMID:31748741   PMID:31810911  
PMID:31871319   PMID:31995728   PMID:32296183   PMID:32694731   PMID:32707033   PMID:32807901   PMID:32877691   PMID:33024031   PMID:33144569   PMID:33916271   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34369648   PMID:34597346   PMID:34672954   PMID:34709416   PMID:34709727   PMID:35022314   PMID:35063084   PMID:35271311   PMID:35384245   PMID:35526781   PMID:35944360  
PMID:35993436   PMID:36042349   PMID:36215168   PMID:36237976   PMID:36244648   PMID:36398858   PMID:36527092   PMID:36610398   PMID:36736316   PMID:36949045   PMID:37232246   PMID:37665239  
PMID:37774976   PMID:37827155   PMID:37931956   PMID:38070861   PMID:38280479  


Genomics

Comparative Map Data
PGRMC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384128,269,242 - 128,287,813 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4128,269,237 - 128,288,829 (-)EnsemblGRCh38hg38GRCh38
GRCh374129,190,397 - 129,208,968 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364129,410,745 - 129,428,400 (-)NCBINCBI36Build 36hg18NCBI36
Build 344129,548,903 - 129,566,553NCBI
Celera4126,571,320 - 126,590,911 (-)NCBICelera
Cytogenetic Map4q28.2NCBI
HuRef4124,921,673 - 124,941,265 (-)NCBIHuRef
CHM1_14129,166,876 - 129,186,474 (-)NCBICHM1_1
T2T-CHM13v2.04131,573,342 - 131,591,912 (-)NCBIT2T-CHM13v2.0
Pgrmc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39341,020,772 - 41,037,443 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl341,020,761 - 41,037,481 (-)EnsemblGRCm39 Ensembl
GRCm38341,066,326 - 41,083,046 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl341,066,326 - 41,083,046 (-)EnsemblGRCm38mm10GRCm38
MGSCv37340,870,248 - 40,886,968 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36341,162,875 - 41,179,605 (-)NCBIMGSCv36mm8
Celera340,795,695 - 40,812,412 (-)NCBICelera
Cytogenetic Map3BNCBI
cM Map319.66NCBI
Pgrmc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82125,996,190 - 126,012,090 (-)NCBIGRCr8
mRatBN7.22124,068,257 - 124,084,155 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2124,068,260 - 124,084,155 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2130,638,703 - 130,654,606 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02128,751,128 - 128,767,031 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02123,380,281 - 123,396,182 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02127,986,106 - 128,002,005 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2127,986,109 - 128,002,005 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02147,587,582 - 147,603,481 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42128,025,076 - 128,040,975 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12127,974,995 - 127,990,892 (-)NCBI
Celera2118,973,862 - 118,989,761 (-)NCBICelera
Cytogenetic Map2q26NCBI
Pgrmc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542813,260,915 - 13,278,656 (+)NCBIChiLan1.0ChiLan1.0
PGRMC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23126,029,967 - 126,050,010 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14126,296,444 - 126,315,758 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04120,429,896 - 120,449,131 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14131,730,824 - 131,750,680 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4131,730,824 - 131,751,094 (-)Ensemblpanpan1.1panPan2
PGRMC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11912,715,286 - 12,733,610 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1912,715,460 - 12,731,957 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1912,904,258 - 12,922,365 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01912,807,640 - 12,825,723 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1912,807,598 - 12,825,728 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11912,777,990 - 12,796,098 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01913,063,706 - 13,081,830 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01913,526,163 - 13,544,273 (+)NCBIUU_Cfam_GSD_1.0
PGRMC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl896,692,777 - 96,709,994 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1896,692,823 - 96,710,218 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28103,564,272 - 103,581,672 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap8q24NCBI
PGRMC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1775,400,906 - 75,420,564 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl775,399,830 - 75,419,604 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603754,547,231 - 54,578,196 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pgrmc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247779,121,021 - 9,136,806 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247779,119,086 - 9,136,814 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PGRMC2
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1 copy number loss See cases [RCV000051056] Chr4:128119872..142431375 [GRCh38]
Chr4:129041027..143352528 [GRCh37]
Chr4:129260477..143571978 [NCBI36]
Chr4:4q28.2-31.21		 pathogenic
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 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 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21		 pathogenic
GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1 copy number loss See cases [RCV000135316] Chr4:125118620..132773079 [GRCh38]
Chr4:126039775..133694234 [GRCh37]
Chr4:126259225..133913684 [NCBI36]
Chr4:4q28.1-28.3		 pathogenic
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 4q28.2(chr4:128270464-129216993)x3 copy number gain See cases [RCV000142797] Chr4:128270464..129216993 [GRCh38]
Chr4:129191619..130138148 [GRCh37]
Chr4:129411069..130357598 [NCBI36]
Chr4:4q28.2		 likely benign
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 copy number loss See cases [RCV000143207] Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3		 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
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 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000508664] Chr4:128287678 [GRCh38]
Chr4:129208833 [GRCh37]
Chr4:4q28.2		 uncertain significance
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
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 4q26-28.2(chr4:116307857-129302960)x1 copy number loss not provided [RCV000682448] Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2		 pathogenic
Single allele deletion not provided [RCV000678021] Chr4:126549693..141313049 [GRCh37]
Chr4:4q28.1-31.1		 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 4q28.1-28.3(chr4:124282603-134014299)x1 copy number loss not provided [RCV000743955] Chr4:124282603..134014299 [GRCh37]
Chr4:4q28.1-28.3		 pathogenic
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 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q28.2-28.3(chr4:128898820-132769588)x1 copy number loss not provided [RCV001005598] Chr4:128898820..132769588 [GRCh37]
Chr4:4q28.2-28.3		 uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) copy number loss Atypical behavior [RCV001352657] Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2		 pathogenic
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 copy number loss not provided [RCV001795851] Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3		 pathogenic
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) copy number loss not specified [RCV002053451] Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_006320.6(PGRMC2):c.242G>A (p.Gly81Glu) single nucleotide variant Inborn genetic diseases [RCV002980827] Chr4:128287549 [GRCh38]
Chr4:129208704 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.415C>G (p.Pro139Ala) single nucleotide variant Inborn genetic diseases [RCV002875176] Chr4:128287376 [GRCh38]
Chr4:129208531 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.185C>T (p.Ala62Val) single nucleotide variant Inborn genetic diseases [RCV002712652] Chr4:128287606 [GRCh38]
Chr4:129208761 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.419C>T (p.Ala140Val) single nucleotide variant Inborn genetic diseases [RCV002793092] Chr4:128272517 [GRCh38]
Chr4:129193672 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.326G>T (p.Arg109Leu) single nucleotide variant Inborn genetic diseases [RCV002746942] Chr4:128287465 [GRCh38]
Chr4:129208620 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.151G>A (p.Gly51Ser) single nucleotide variant Inborn genetic diseases [RCV003217943] Chr4:128287640 [GRCh38]
Chr4:129208795 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.551G>A (p.Arg184Gln) single nucleotide variant Inborn genetic diseases [RCV003193340] Chr4:128272385 [GRCh38]
Chr4:129193540 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.650A>G (p.Lys217Arg) single nucleotide variant Inborn genetic diseases [RCV003191400] Chr4:128271338 [GRCh38]
Chr4:129192493 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.232C>T (p.Arg78Trp) single nucleotide variant Inborn genetic diseases [RCV003189665] Chr4:128287559 [GRCh38]
Chr4:129208714 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.148G>T (p.Gly50Trp) single nucleotide variant Inborn genetic diseases [RCV003309367] Chr4:128287643 [GRCh38]
Chr4:129208798 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.179T>C (p.Leu60Pro) single nucleotide variant Inborn genetic diseases [RCV003379722] Chr4:128287612 [GRCh38]
Chr4:129208767 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_006320.6(PGRMC2):c.247G>C (p.Gly83Arg) single nucleotide variant Inborn genetic diseases [RCV003367737] Chr4:128287544 [GRCh38]
Chr4:129208699 [GRCh37]
Chr4:4q28.2		 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 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
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 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2860
Count of miRNA genes:643
Interacting mature miRNAs:756
Transcripts:ENST00000296425, ENST00000394276, ENST00000503588, ENST00000503872, ENST00000509070, ENST00000512483, ENST00000520121
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D4S3304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374129,190,420 - 129,190,553UniSTSGRCh37
Build 364129,409,870 - 129,410,003RGDNCBI36
Celera4126,571,348 - 126,571,481RGD
Cytogenetic Map4q26UniSTS
HuRef4124,921,701 - 124,921,834UniSTS
SHGC-50187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374129,190,446 - 129,190,643UniSTSGRCh37
Build 364129,409,896 - 129,410,093RGDNCBI36
Celera4126,571,374 - 126,571,571RGD
Cytogenetic Map4q26UniSTS
HuRef4124,921,727 - 124,921,924UniSTS
TNG Radiation Hybrid Map479452.0UniSTS
RH91160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374129,191,397 - 129,191,545UniSTSGRCh37
Build 364129,410,847 - 129,410,995RGDNCBI36
Celera4126,572,325 - 126,572,473RGD
Cytogenetic Map4q26UniSTS
HuRef4124,922,678 - 124,922,826UniSTS
GeneMap99-GB4 RH Map4574.27UniSTS
STS-Z41404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374129,190,429 - 129,190,502UniSTSGRCh37
Build 364129,409,879 - 129,409,952RGDNCBI36
Celera4126,571,357 - 126,571,430RGD
Cytogenetic Map4q26UniSTS
HuRef4124,921,710 - 124,921,783UniSTS
GeneMap99-GB4 RH Map4574.27UniSTS
NCBI RH Map41300.2UniSTS
G19722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374129,191,333 - 129,191,590UniSTSGRCh37
Build 364129,410,783 - 129,411,040RGDNCBI36
Celera4126,572,261 - 126,572,518RGD
Cytogenetic Map4q26UniSTS
HuRef4124,922,614 - 124,922,871UniSTS
A001W34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374129,191,333 - 129,191,590UniSTSGRCh37
Build 364129,410,783 - 129,411,040RGDNCBI36
Celera4126,572,261 - 126,572,518RGD
Cytogenetic Map4q26UniSTS
HuRef4124,922,614 - 124,922,871UniSTS
GeneMap99-GB4 RH Map4574.47UniSTS
NCBI RH Map41299.2UniSTS


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
High
Medium 2432 2092 1717 619 1205 461 3986 1677 3127 406 1448 1607 170 1203 2420 4
Low 1 889 7 3 740 3 369 516 582 12 4 1 1 368 1
Below cutoff 1 5 2 4 1 1 5 1 4 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC096898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI375856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ002030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM699362 (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
  DB046342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296425   ⟹   ENSP00000296425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,269,242 - 128,287,813 (-)Ensembl
RefSeq Acc Id: ENST00000394276   ⟹   ENSP00000475242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,269,256 - 128,273,061 (-)Ensembl
RefSeq Acc Id: ENST00000503588   ⟹   ENSP00000476010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,270,871 - 128,286,787 (-)Ensembl
RefSeq Acc Id: ENST00000503872   ⟹   ENSP00000475268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,270,705 - 128,286,878 (-)Ensembl
RefSeq Acc Id: ENST00000509070   ⟹   ENSP00000475603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,271,359 - 128,287,388 (-)Ensembl
RefSeq Acc Id: ENST00000512483   ⟹   ENSP00000475350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,270,612 - 128,288,203 (-)Ensembl
RefSeq Acc Id: ENST00000520121   ⟹   ENSP00000429301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,269,242 - 128,288,829 (-)Ensembl
RefSeq Acc Id: ENST00000613358   ⟹   ENSP00000481886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4128,269,237 - 128,288,822 (-)Ensembl
RefSeq Acc Id: NM_006320   ⟹   NP_006311
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384128,269,242 - 128,287,813 (-)NCBI
GRCh374129,190,392 - 129,209,984 (-)RGD
Build 364129,410,745 - 129,428,400 (-)NCBI Archive
Celera4126,571,320 - 126,590,911 (-)RGD
HuRef4124,921,673 - 124,941,265 (-)RGD
CHM1_14129,166,876 - 129,186,474 (-)NCBI
T2T-CHM13v2.04131,573,342 - 131,591,912 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_006311   ⟸   NM_006320
- UniProtKB: O15173 (UniProtKB/Swiss-Prot),   Q569H1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000476010   ⟸   ENST00000503588
RefSeq Acc Id: ENSP00000475268   ⟸   ENST00000503872
RefSeq Acc Id: ENSP00000296425   ⟸   ENST00000296425
RefSeq Acc Id: ENSP00000475603   ⟸   ENST00000509070
RefSeq Acc Id: ENSP00000481886   ⟸   ENST00000613358
RefSeq Acc Id: ENSP00000429301   ⟸   ENST00000520121
RefSeq Acc Id: ENSP00000475242   ⟸   ENST00000394276
RefSeq Acc Id: ENSP00000475350   ⟸   ENST00000512483
Protein Domains
Cytochrome b5 heme-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15173-F1-model_v2 AlphaFold O15173 1-223 view protein structure

Promoters
RGD ID:6868462
Promoter ID:EPDNEW_H7396
Type:initiation region
Name:PGRMC2_1
Description:progesterone receptor membrane component 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7397  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384128,287,804 - 128,287,864EPDNEW
RGD ID:6868464
Promoter ID:EPDNEW_H7397
Type:initiation region
Name:PGRMC2_2
Description:progesterone receptor membrane component 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7396  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384128,288,821 - 128,288,881EPDNEW
RGD ID:6802221
Promoter ID:HG_KWN:49097
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000332709,   NM_006320
Position:
Human AssemblyChrPosition (strand)Source
Build 364129,428,256 - 129,430,392 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16089 AgrOrtholog
COSMIC PGRMC2 COSMIC
Ensembl Genes ENSG00000164040 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296425 ENTREZGENE
  ENST00000296425.10 UniProtKB/Swiss-Prot
  ENST00000394276.3 UniProtKB/TrEMBL
  ENST00000503588.1 UniProtKB/TrEMBL
  ENST00000503872.1 UniProtKB/TrEMBL
  ENST00000509070.1 UniProtKB/TrEMBL
  ENST00000512483.5 UniProtKB/TrEMBL
  ENST00000520121.6 UniProtKB/Swiss-Prot
  ENST00000613358.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164040 GTEx
HGNC ID HGNC:16089 ENTREZGENE
Human Proteome Map PGRMC2 Human Proteome Map
InterPro Cyt_B5-like_heme/steroid-bd UniProtKB/Swiss-Prot
  Cyt_B5-like_heme/steroid_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10424 UniProtKB/Swiss-Prot
NCBI Gene 10424 ENTREZGENE
OMIM 607735 OMIM
PANTHER MEMBRANE-ASSOCIATED PROGESTERONE RECEPTOR COMPONENT 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MEMBRANE-ASSOCIATED PROGESTERONE RECEPTOR COMPONENT-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cyt-b5 UniProtKB/Swiss-Prot
PharmGKB PA33249 PharmGKB
SMART Cyt-b5 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55856 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O15173 ENTREZGENE, UniProtKB/Swiss-Prot
  Q569H1 ENTREZGENE
  U3KPU8_HUMAN UniProtKB/TrEMBL
  U3KQ70_HUMAN UniProtKB/TrEMBL
  U3KQM0_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DNX9 UniProtKB/TrEMBL
  Q569H1 UniProtKB/Swiss-Prot