Human Gene GH2 (ENST00000423893.7) Description and Page Index
  Description: Homo sapiens growth hormone 2 (GH2), transcript variant 1, mRNA. (from RefSeq NM_002059)
RefSeq Summary (NM_002059): The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000423893.7
Gencode Gene: ENSG00000136487.18
Transcript (Including UTRs)
   Position: hg38 chr17:63,880,215-63,881,944 Size: 1,730 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr17:63,880,321-63,881,801 Size: 1,481 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:63,880,215-63,881,944)mRNA (may differ from genome)Protein (217 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIneXtProtOMIMPubMedReactome
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SOM2_HUMAN
DESCRIPTION: RecName: Full=Growth hormone variant; Short=GH-V; AltName: Full=Growth hormone 2; AltName: Full=Placenta-specific growth hormone; Flags: Precursor;
FUNCTION: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.
SUBUNIT: Monomer, dimer, trimer, tetramer and pentamer, disulfide- linked or non-covalently associated, in homopolymeric and heteropolymeric combinations. Can also form a complex either with GHBP or with the alpha2-macroglobulin complex.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed in the placenta.
SIMILARITY: Belongs to the somatotropin/prolactin family.

-  MalaCards Disease Associations
  MalaCards Gene Search: GH2
Diseases sorted by gene-association score: choriocarcinoma (14), prostate carcinoma in situ (7), hiatus hernia (6), long qt syndrome 1 (1)

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.79 RPKM in Pituitary
Total median expression: 6.98 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.20143-0.239 Picture PostScript Text
3' UTR -25.20106-0.238 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
IPR009079 - 4_helix_cytokine-like_core
IPR012351 - 4_helix_cytokine_core
IPR001400 - Somatotropin
IPR018116 - Somatotropin_CS

Pfam Domains:
PF00103 - Somatotropin hormone family

ModBase Predicted Comparative 3D Structure on P01242
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

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

Biological Process:
GO:0010469 regulation of receptor activity
GO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0031904 endosome lumen


-  Descriptions from all associated GenBank mRNAs
  J03756 - Human growth hormone-variant (GH1) and growth hormone-variant-2 (GH2) mRNA, complete cds.
AF006061 - Homo sapiens placental growth hormone isoform hGH-V3 (hGH-V) mRNA, complete cds.
BC020760 - Homo sapiens growth hormone 2, mRNA (cDNA clone MGC:22617 IMAGE:4720475), complete cds.
AF006060 - Homo sapiens placental growth hormone 20kDa isoform (hGH-V) mRNA, complete cds.
M38451 - Human placenta-specific growth hormone mRNA, complete cds.
JD230625 - Sequence 211649 from Patent EP1572962.
JD385217 - Sequence 366241 from Patent EP1572962.
JD390511 - Sequence 371535 from Patent EP1572962.
CR541902 - Homo sapiens full open reading frame cDNA clone RZPDo834C1233D for gene GH2, growth hormone 2; complete cds, incl. stopcodon.
CU676706 - Synthetic construct Homo sapiens gateway clone IMAGE:100022163 5' read GH2 mRNA.
KJ891240 - Synthetic construct Homo sapiens clone ccsbBroadEn_00634 GH2 gene, encodes complete protein.
AB451332 - Homo sapiens GH2 mRNA for growth hormone 2 isoform 4, complete cds, clone: FLJ80267SAAN.
CR541924 - Homo sapiens full open reading frame cDNA clone RZPDo834G1033D for gene GH2, growth hormone 2; complete cds, without stopcodon.
AB451477 - Homo sapiens GH2 mRNA for growth hormone 2 isoform 4, partial cds, clone: FLJ80267SAAF.
E00141 - cDNA encoding human growth hormone.
JD139944 - Sequence 120968 from Patent EP1572962.
JD139707 - Sequence 120731 from Patent EP1572962.
JD522697 - Sequence 503721 from Patent EP1572962.
JD312884 - Sequence 293908 from Patent EP1572962.
AK312194 - Homo sapiens cDNA, FLJ92481, Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.
JD438161 - Sequence 419185 from Patent EP1572962.
JD438162 - Sequence 419186 from Patent EP1572962.
JD438159 - Sequence 419183 from Patent EP1572962.
JD438160 - Sequence 419184 from Patent EP1572962.
JD256205 - Sequence 237229 from Patent EP1572962.
JD324980 - Sequence 306004 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04080 - Neuroactive ligand-receptor interaction
hsa04630 - Jak-STAT signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P01242 (Reactome details) participates in the following event(s):

R-HSA-982778 Growth hormone binds the growth hormone receptor
R-HSA-1362485 GHBP binds GH
R-HSA-1168456 Growth hormone receptor binds Lyn
R-HSA-982807 JAK2 phosphorylation of GHR
R-HSA-1168768 JAK2 binds STAT1/3
R-HSA-1168393 STAT5 association with GHR
R-HSA-1168445 PTP1B binds the GH receptor complex
R-HSA-1168809 SOCS binding to GHR
R-HSA-1168813 SOCS binding to JAK2
R-HSA-1168839 SHP1 (PTPN6) binds JAK2 in the receptor complex
R-HSA-1168894 p-STAT5A/B dissociates from the Growth Hormone receptor
R-HSA-976991 Prolactin receptor ligands bind the prolactin receptor
R-HSA-1168767 JAK2 phosphorylates STAT1/STAT3
R-HSA-1168423 JAK2 phosphorylation of IRS-1/2
R-HSA-1168394 STAT5 tyrosine phosphorylation
R-HSA-1169192 PTP1B dephosphorylates GHR
R-HSA-1169210 PTP1B dephosphorylates JAK2
R-HSA-1169188 SHP1 (PTPN6) dephosphorylates JAK2
R-HSA-1675473 SH2B binds JAK2
R-HSA-1369080 PRLR binds STAT5
R-HSA-1369114 PRLR binds SHP2 (PTPN11)
R-HSA-1370500 PRLR binds SCF beta-TrCP complex
R-HSA-1671691 PRLR-bound STAT5 is phosphorylated
R-HSA-1369115 SHP2 is phosphorylated
R-HSA-982772 Growth hormone receptor signaling
R-HSA-1170546 Prolactin receptor signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B1A4H5, B1A4H7, NM_002059, O14643, O14644, P01242, P09587, SOM2_HUMAN, uc002jco.1, uc002jco.2, uc002jco.3, uc002jco.4
UCSC ID: uc002jco.4
RefSeq Accession: NM_002059
Protein: P01242 (aka SOM2_HUMAN)
CCDS: CCDS11647.1

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