Human Gene GNRH2 (uc002whr.1) Description and Page Index
  Description: Homo sapiens gonadotropin-releasing hormone 2 (GNRH2), transcript variant 1, mRNA.
RefSeq Summary (NM_001501): This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019].
Transcript (Including UTRs)
   Position: hg19 chr20:3,024,268-3,026,391 Size: 2,124 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr20:3,025,061-3,026,382 Size: 1,322 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:3,024,268-3,026,391)mRNA (may differ from genome)Protein (120 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GON2_HUMAN
DESCRIPTION: RecName: Full=Progonadoliberin-2; AltName: Full=Progonadoliberin II; Contains: RecName: Full=Gonadoliberin-2; AltName: Full=Gonadoliberin II; AltName: Full=Gonadotropin-releasing hormone II; Short=GnRH II; AltName: Full=Luliberin II; AltName: Full=Luteinizing hormone-releasing hormone II; Short=LH-RH II; Contains: RecName: Full=GnRH-associated peptide 2; AltName: Full=GnRH-associated peptide II; Flags: Precursor;
FUNCTION: Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Midbrain; expressed at significantly higher levels outside the brain (up to 30-fold), particularly in the kidney, bone marrow and prostate.
SIMILARITY: Belongs to the GnRH family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GNRH2
CDC HuGE Published Literature: GNRH2

-  MalaCards Disease Associations
  MalaCards Gene Search: GNRH2
Diseases sorted by gene-association score: breast cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.50 RPKM in Brain - Cerebellum
Total median expression: 14.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.0251-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002012 - GnRH

Pfam Domains:
PF00446 - Gonadotropin-releasing hormone

ModBase Predicted Comparative 3D Structure on O43555
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity

Biological Process:
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007275 multicellular organism development
GO:0010469 regulation of receptor activity

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  AF036330 - Homo sapiens gonadotropin-releasing hormone precursor, second form (GnRH-II) mRNA, partial cds.
BC069362 - Homo sapiens gonadotropin-releasing hormone 2, transcript variant 1, mRNA (cDNA clone MGC:97397 IMAGE:7262673), complete cds.
BC115399 - Homo sapiens gonadotropin-releasing hormone 2, mRNA (cDNA clone MGC:134861 IMAGE:40069240), complete cds.
BC115400 - Homo sapiens gonadotropin-releasing hormone 2, mRNA (cDNA clone MGC:134862 IMAGE:40069241), complete cds.
JD044421 - Sequence 25445 from Patent EP1572962.
JD371711 - Sequence 352735 from Patent EP1572962.
AF190640 - Homo sapiens endometrium-specific GnRH-II mRNA, partial cds.
LF205903 - JP 2014500723-A/13406: Polycomb-Associated Non-Coding RNAs.
MA441480 - JP 2018138019-A/13406: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction
hsa04912 - GnRH signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein O43555 (Reactome details) participates in the following event(s):

R-HSA-391372 Gonadotropin-releasing hormone receptors can bind GNRH I and II
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-375281 Hormone ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: GON2_HUMAN, NM_001501, NP_001492, O43555, Q14C68, Q14C69, Q9BYN9, Q9BYP0
UCSC ID: uc002whr.1
RefSeq Accession: NM_001501
Protein: O43555 (aka GON2_HUMAN)
CCDS: CCDS13040.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001501.1
exon count: 4CDS single in 3' UTR: no RNA size: 423
ORF size: 363CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 926.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.