LHB (luteinizing hormone subunit beta) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LHB (luteinizing hormone subunit beta) Homo sapiens
Analyze
Symbol: LHB
Name: luteinizing hormone subunit beta
RGD ID: 69097
HGNC Page HGNC
Description: Predicted to enable signaling receptor binding activity. Predicted to contribute to hormone activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to act upstream of or within luteinizing hormone signaling pathway involved in ovarian follicle development. Predicted to be located in Golgi lumen and extracellular region. Predicted to be active in cytoplasm and extracellular space. Implicated in hypogonadotropic hypogonadism 23 with or without anosmia. Biomarker of severe acute respiratory syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CGB4; HH23; hLHB; interstitial cell stimulating hormone, beta chain; LSH-B; LSH-beta; luteinizing hormone beta; luteinizing hormone beta polypeptide; luteinizing hormone beta subunit; lutropin beta chain; lutropin subunit beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1949,015,980 - 49,017,091 (-)EnsemblGRCh38hg38GRCh38
GRCh381949,015,980 - 49,017,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371949,519,237 - 49,520,348 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,211,049 - 54,212,159 (-)NCBINCBI36hg18NCBI36
Build 341954,211,048 - 54,212,159NCBI
Celera1946,386,444 - 46,387,554 (-)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,895,957 - 45,897,067 (-)NCBIHuRef
CHM1_11949,521,461 - 49,522,571 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-nicotine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-Dibromo-3-chloropropane  (ISO)
1,3-dinitrobenzene  (ISO)
1-methylnicotinamide  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxyestrone  (EXP)
2-tert-butylhydroquinone  (ISO)
3',5'-cyclic AMP  (EXP,ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-dihydroxybenzoic acid  (ISO)
3-[(4-anilinophenyl)diazenyl]benzene-1-sulfonic acid  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-nonylphenol  (ISO)
4-tert-Octylphenol  (ISO)
5-formyltetrahydrofolic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (ISO)
acetaldehyde  (ISO)
acetamiprid  (ISO)
acrylamide  (ISO)
alcohol  (EXP)
all-trans-retinoic acid  (ISO)
alpha-amanitin  (ISO)
alprazolam  (EXP)
aminoglutethimide  (EXP,ISO)
amitraz  (ISO)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
anastrozole  (ISO)
androst-4-ene-3,17-dione  (EXP)
androstane-3,17-diol  (ISO)
apocynin  (ISO)
arecoline  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (ISO)
aspartame  (ISO)
atrazine  (EXP,ISO)
benoxaprofen  (ISO)
benzo[a]pyrene  (EXP,ISO)
betamethasone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
bromocriptine  (EXP)
bromodichloromethane  (ISO)
butylated hydroxyanisole  (ISO)
Butylparaben  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
canagliflozin  (ISO)
celecoxib  (ISO)
cetrorelix  (EXP,ISO)
chlormequat chloride  (ISO)
chlorogenic acid  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
chrysin  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clomiphene  (EXP)
colforsin daropate hydrochloride  (ISO)
crizotinib  (EXP)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproterone acetate  (EXP,ISO)
danazol  (ISO)
DDT  (EXP,ISO)
desogestrel  (EXP)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dienogest  (EXP)
diethylstilbestrol  (ISO)
diiodine  (ISO)
dimethoate  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
disulfiram  (ISO)
doxorubicin  (ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
equol  (ISO)
Estradiol 17beta-cyclopentylpropionate  (ISO)
ethanol  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
fenitrothion  (ISO)
flufenamic acid  (ISO)
flurbiprofen  (ISO)
flutamide  (EXP,ISO)
furan  (ISO)
fursultiamine  (ISO)
Gallopamil  (ISO)
ganirelix  (EXP)
gentamycin  (ISO)
glutathione  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
guanosine 5'-[beta,gamma-imido]triphosphate  (ISO)
herbicide  (ISO)
hexachlorobenzene  (ISO)
hydrogen peroxide  (EXP,ISO)
indole-3-methanol  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (EXP,ISO)
lansoprazole  (ISO)
Lead oxide  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
letrozole  (EXP,ISO)
leuprolide  (EXP)
levonorgestrel  (EXP)
Licochalcone B  (EXP)
linagliptin  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
LY294002  (EXP)
manganese(II) chloride  (ISO)
masoprocol  (ISO)
melatonin  (ISO)
menadione  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
Methanandamide  (ISO)
Methandrostenolone  (ISO)
methiocarb  (ISO)
methomyl  (ISO)
methotrexate  (ISO)
methoxyacetic acid  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
metoclopramide  (EXP)
mifepristone  (ISO)
molinate  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
morin  (ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP,ISO)
N-acetyl-L-cysteine  (ISO)
naloxone  (EXP,ISO)
naltrexone  (EXP)
nickel atom  (ISO)
nicotinamide  (ISO)
nicotine  (ISO)
nimesulide  (EXP)
nimodipine  (ISO)
nitrofurazone  (ISO)
Norbinaltorphimine  (ISO)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (ISO)
pentobarbital  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorododecanoic acid  (ISO)
perfluoroheptanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perphenazine  (ISO)
Phenoxybenzamine  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pimozide  (ISO)
potassium dichromate  (ISO)
prazosin  (ISO)
pregnenolone  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP,ISO)
promegestone  (ISO)
propyzamide  (ISO)
quercetin  (ISO)
raloxifene  (ISO)
reactive oxygen species  (ISO)
resveratrol  (ISO)
rimonabant  (ISO)
rofecoxib  (ISO)
selenium atom  (ISO)
sertraline  (ISO)
sildenafil citrate  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP)
sodium arsenite  (ISO)
sodium benzoate  (ISO)
sodium fluoride  (ISO)
sodium perchlorate  (ISO)
sophoraflavanone B  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sulpiride  (ISO)
T-2 toxin  (ISO)
tamoxifen  (EXP,ISO)
taurine  (ISO)
testosterone  (EXP,ISO)
testosterone enanthate  (ISO)
Testosterone propionate  (ISO)
thimerosal  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (ISO)
triphenylstannane  (ISO)
triptonide  (ISO)
triptorelin  (ISO)
tyrphostin AG 1478  (ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
vitexin  (ISO)
zearalenone  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1191677   PMID:1495492   PMID:1727547   PMID:1991473   PMID:2424697   PMID:3470775   PMID:4368999   PMID:4685398   PMID:4719207   PMID:6690982   PMID:6785294   PMID:7513655  
PMID:7679977   PMID:8663226   PMID:8961276   PMID:8979264   PMID:9457942   PMID:9619532   PMID:9886510   PMID:10065776   PMID:10484773   PMID:10854700   PMID:11829319   PMID:11861891  
PMID:11870227   PMID:12042273   PMID:12356936   PMID:12419040   PMID:12683946   PMID:12700240   PMID:12734546   PMID:12746844   PMID:14557487   PMID:14585810   PMID:14871891   PMID:15569941  
PMID:16103457   PMID:16358135   PMID:16410673   PMID:17507624   PMID:17761593   PMID:18240029   PMID:18439297   PMID:18703851   PMID:18767927   PMID:19106225   PMID:19129711   PMID:19146763  
PMID:19453261   PMID:19574343   PMID:19598235   PMID:19890021   PMID:20173016   PMID:20430510   PMID:20734064   PMID:21353371   PMID:21458524   PMID:21764500   PMID:21873635   PMID:22108961  
PMID:22209983   PMID:22546001   PMID:22865884   PMID:23015653   PMID:23160221   PMID:23376485   PMID:23725475   PMID:24297486   PMID:24625195   PMID:25111116   PMID:25820123   PMID:25935136  
PMID:26662070   PMID:27215137   PMID:27656125   PMID:29476300   PMID:30173455   PMID:32185793   PMID:32296183  


Genomics

Comparative Map Data
LHB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1949,015,980 - 49,017,091 (-)EnsemblGRCh38hg38GRCh38
GRCh381949,015,980 - 49,017,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371949,519,237 - 49,520,348 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,211,049 - 54,212,159 (-)NCBINCBI36hg18NCBI36
Build 341954,211,048 - 54,212,159NCBI
Celera1946,386,444 - 46,387,554 (-)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,895,957 - 45,897,067 (-)NCBIHuRef
CHM1_11949,521,461 - 49,522,571 (-)NCBICHM1_1
Lhb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,066,912 - 45,071,279 (+)NCBIGRCm39mm39
GRCm39 Ensembl745,070,244 - 45,071,321 (+)Ensembl
GRCm39 Ensembl745,067,777 - 45,071,278 (+)Ensembl
GRCm38745,417,608 - 45,421,855 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,420,820 - 45,421,897 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl745,418,353 - 45,421,854 (+)EnsemblGRCm38mm10GRCm38
MGSCv37752,676,316 - 52,677,224 (+)NCBIGRCm37mm9NCBIm37
MGSCv36745,288,988 - 45,289,896 (+)NCBImm8
Celera740,876,980 - 40,877,888 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.3NCBI
Lhb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2195,898,269 - 95,901,973 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1101,410,019 - 101,413,724 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01101,409,992 - 101,413,725 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01102,489,421 - 102,493,135 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,892,999 - 95,893,988 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1195,971,118 - 95,972,098 (+)NCBI
Celera190,156,575 - 90,157,564 (+)NCBICelera
Cytogenetic Map1q22NCBI
Lhb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555591,656,106 - 1,657,192 (+)NCBIChiLan1.0ChiLan1.0
LHB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11954,988,525 - 54,991,245 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01946,017,880 - 46,021,395 (-)NCBIMhudiblu_PPA_v0panPan3
LHB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,382,855 - 107,384,029 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.01107,907,413 - 107,908,590 (+)NCBI
UMICH_Zoey_3.11107,575,256 - 107,576,428 (+)NCBI
UNSW_CanFamBas_1.01107,221,425 - 107,222,599 (+)NCBI
UU_Cfam_GSD_1.01108,057,035 - 108,058,209 (+)NCBI
LHB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1654,263,574 - 54,269,286 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,063,469 - 50,065,072 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap6q21NCBI
LHB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,247,254 - 42,248,822 (-)NCBI
Vero_WHO_p1.0NW_02366607322,134,416 - 22,135,718 (-)NCBI

Position Markers
A002E14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,518,897 - 49,519,151UniSTSGRCh37
Build 361954,210,709 - 54,210,963RGDNCBI36
Celera1946,386,104 - 46,386,358RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.32UniSTS
HuRef1945,895,617 - 45,895,871UniSTS
GeneMap99-GB4 RH Map19267.96UniSTS
Whitehead-RH Map19342.1UniSTS
RH47492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,518,918 - 49,519,182UniSTSGRCh37
Build 361954,210,730 - 54,210,994RGDNCBI36
Celera1946,386,125 - 46,386,389RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.32UniSTS
HuRef1945,895,638 - 45,895,902UniSTS
GeneMap99-GB4 RH Map19266.84UniSTS
UniSTS:481308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,519,275 - 49,520,348UniSTSGRCh37
Celera1946,386,482 - 46,387,555UniSTS
UniSTS:483811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,519,243 - 49,520,348UniSTSGRCh37
Celera1946,386,450 - 46,387,555UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:328
Count of miRNA genes:278
Interacting mature miRNAs:282
Transcripts:ENST00000221421
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1 221 2 221 2
Medium 8 3 71 8 22 7 19 5 68 6 109 6 5 4 6
Low 1086 763 793 247 858 129 2015 438 906 212 988 1107 125 531 1089 4
Below cutoff 1001 1555 475 246 573 208 1775 1288 1937 148 281 404 38 558 1248

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000649238   ⟹   ENSP00000497294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1949,015,980 - 49,017,091 (-)Ensembl
RefSeq Acc Id: ENST00000649284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1949,016,075 - 49,016,820 (-)Ensembl
RefSeq Acc Id: NM_000894   ⟹   NP_000885
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,015,980 - 49,017,091 (-)NCBI
GRCh371949,519,237 - 49,520,350 (-)NCBI
Build 361954,211,049 - 54,212,159 (-)NCBI Archive
HuRef1945,895,957 - 45,897,067 (-)ENTREZGENE
CHM1_11949,521,461 - 49,522,571 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000885   ⟸   NM_000894
- Peptide Label: precursor
- UniProtKB: P01229 (UniProtKB/Swiss-Prot),   A0A0F7RQE6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497294   ⟸   ENST00000649238
Protein Domains
Cys_knot

Promoters
RGD ID:13205051
Promoter ID:EPDNEW_H26106
Type:single initiation site
Name:LHB_1
Description:luteinizing hormone beta polypeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,017,090 - 49,017,150EPDNEW
RGD ID:6850000
Promoter ID:EP11127
Type:single initiation site
Name:HS_LHB
Description:Luteinizing hormone-beta, LHB gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 42; Mammalian luteinizing hormone
Tissues & Cell Lines:pituitary
Experiment Methods:Nuclease protection; Primer extension; Sequencing of a full-length cDNA; experiments performed with; closely related gene
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,212,159 - 54,212,219EPD
RGD ID:6795743
Promoter ID:HG_KWN:30497
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000894
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,212,736 - 54,213,236 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000894.2(LHB):c.221A>G (p.Gln74Arg) single nucleotide variant Isolated lutropin deficiency [RCV000015494] Chr19:49016273 [GRCh38]
Chr19:49519530 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000894.2(LHB):c.364G>A (p.Gly122Ser) single nucleotide variant Variant of unknown significance [RCV000015496]|not provided [RCV000907308] Chr19:49016130 [GRCh38]
Chr19:49519387 [GRCh37]
Chr19:19q13.33
pathogenic|likely benign|uncertain significance
NM_000894.2(LHB):c.167G>A (p.Gly56Asp) single nucleotide variant Isolated lutropin deficiency [RCV000015497] Chr19:49016563 [GRCh38]
Chr19:49519820 [GRCh37]
Chr19:19q13.33
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_000894.2(LHB):c.183+1G>C single nucleotide variant Isolated lutropin deficiency [RCV000169724] Chr19:49016546 [GRCh38]
Chr19:49519803 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000894.2(LHB):c.88_96del (p.His30_Ile32del) deletion Isolated lutropin deficiency [RCV000169725] Chr19:49016634..49016642 [GRCh38]
Chr19:49519891..49519899 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000894.2(LHB):c.28_39del (p.Leu10_Leu13del) deletion Isolated lutropin deficiency [RCV000169726] Chr19:49016691..49016702 [GRCh38]
Chr19:49519948..49519959 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000894.2(LHB):c.183+1G>T single nucleotide variant Isolated lutropin deficiency [RCV000169727] Chr19:49016546 [GRCh38]
Chr19:49519803 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
GRCh37/hg19 19q13.33(chr19:49519466-49539777)x3 copy number gain not provided [RCV000752725] Chr19:49519466..49539777 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19q13.33(chr19:49519850-49558959)x3 copy number gain See cases [RCV000447118] Chr19:49519850..49558959 [GRCh37]
Chr19:19q13.33
benign
NM_000894.2(LHB):c.16-26T>C single nucleotide variant Isolated lutropin deficiency [RCV000599727] Chr19:49016740 [GRCh38]
Chr19:49519997 [GRCh37]
Chr19:19q13.33
benign
NM_000894.2(LHB):c.183+11T>C single nucleotide variant Isolated lutropin deficiency [RCV000600396] Chr19:49016536 [GRCh38]
Chr19:49519793 [GRCh37]
Chr19:19q13.33
benign
NM_000894.2(LHB):c.132A>C (p.Pro44=) single nucleotide variant Isolated lutropin deficiency [RCV000607473] Chr19:49016598 [GRCh38]
Chr19:49519855 [GRCh37]
Chr19:19q13.33
benign
NM_000894.2(LHB):c.114C>G (p.Val38=) single nucleotide variant Isolated lutropin deficiency [RCV000612318] Chr19:49016616 [GRCh38]
Chr19:49519873 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.33(chr19:49519466-49544627)x3 copy number gain not provided [RCV000752726] Chr19:49519466..49544627 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000894.3(LHB):c.262C>T (p.Arg88Trp) single nucleotide variant not provided [RCV000895089] Chr19:49016232 [GRCh38]
Chr19:49519489 [GRCh37]
Chr19:19q13.33
likely benign
NM_000894.3(LHB):c.231C>T (p.Cys77=) single nucleotide variant not provided [RCV000964073] Chr19:49016263 [GRCh38]
Chr19:49519520 [GRCh37]
Chr19:19q13.33
benign
NM_000894.3(LHB):c.233C>A (p.Thr78Asn) single nucleotide variant not provided [RCV000947980] Chr19:49016261 [GRCh38]
Chr19:49519518 [GRCh37]
Chr19:19q13.33
benign
NM_000894.3(LHB):c.15+9A>G single nucleotide variant not provided [RCV000947981] Chr19:49017058 [GRCh38]
Chr19:49520315 [GRCh37]
Chr19:19q13.33
benign
NM_000894.3(LHB):c.415C>T (p.Leu139Phe) single nucleotide variant not provided [RCV000963387] Chr19:49016079 [GRCh38]
Chr19:49519336 [GRCh37]
Chr19:19q13.33
benign
NM_000894.3(LHB):c.210G>A (p.Pro70=) single nucleotide variant not provided [RCV000937505] Chr19:49016284 [GRCh38]
Chr19:49519541 [GRCh37]
Chr19:19q13.33
likely benign
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_000894.3(LHB):c.189C>G (p.Arg63=) single nucleotide variant not provided [RCV000887278] Chr19:49016305 [GRCh38]
Chr19:49519562 [GRCh37]
Chr19:19q13.33
benign
NM_000894.2(LHB):c.104T>C (p.Ile35Thr) single nucleotide variant not provided [RCV000950016] Chr19:49016626 [GRCh38]
Chr19:49519883 [GRCh37]
Chr19:19q13.33
benign
NM_000894.3(LHB):c.200C>G (p.Ala67Gly) single nucleotide variant not provided [RCV000962706] Chr19:49016294 [GRCh38]
Chr19:49519551 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
NM_000894.3(LHB):c.286G>A (p.Val96Met) single nucleotide variant Isolated lutropin deficiency [RCV001009619] Chr19:49016208 [GRCh38]
Chr19:49519465 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6584 AgrOrtholog
COSMIC LHB COSMIC
Ensembl Genes ENSG00000104826 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000497294 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000649238 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104826 GTEx
HGNC ID HGNC:6584 ENTREZGENE
Human Proteome Map LHB Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hormone_CN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gonadotropin_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gonadotropin_bsu_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3972 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3972 ENTREZGENE
OMIM 152780 OMIM
  228300 OMIM
PANTHER PTHR11515 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cys_knot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30356 PharmGKB
PROSITE GLYCO_HORMONE_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYCO_HORMONE_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GHB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0F7RQE6 ENTREZGENE, UniProtKB/TrEMBL
  A7Y161_HUMAN UniProtKB/TrEMBL
  LSHB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8WXL0_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9UDI0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-30 LHB  luteinizing hormone subunit beta  LHB  luteinizing hormone beta polypeptide  Symbol and/or name change 5135510 APPROVED