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 gen... See more...

Aliases for GH2 Gene

Aliases for GH2 Gene

  • Growth Hormone 2 2 3 4 5
  • Placenta-Specific Growth Hormone 2 3 4
  • Placental-Specific Growth Hormone 2 3
  • Growth Hormone Variant 3 4
  • GH-V 3 4
  • Growth Hormone B2 3
  • HGH-V 3
  • GHB2 3
  • GHL 3
  • GHV 3

External Ids for GH2 Gene

Previous GeneCards Identifiers for GH2 Gene

  • GC17U990035
  • GC17M064383
  • GC17M062425
  • GC17M062430
  • GC17M059304
  • GC17M059311
  • GC17M061957
  • GC17M057325

Summaries for GH2 Gene

Entrez Gene Summary for GH2 Gene

  • 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]

GeneCards Summary for GH2 Gene

GH2 (Growth Hormone 2) is a Protein Coding gene. Diseases associated with GH2 include Protein-Deficiency Anemia and Choriocarcinoma. Among its related pathways are p70S6K Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is GH1.

UniProtKB/Swiss-Prot Summary for GH2 Gene

  • 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.

Gene Wiki entry for GH2 Gene

Additional gene information for GH2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GH2 Gene

Genomics for GH2 Gene

GeneHancer (GH) Regulatory Elements for GH2 Gene

Promoters and enhancers for GH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J063881 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 750.6 +0.0 39 1.6 CTCF USF2 SP1 ZNF384 HDGF IKZF1 CREB1 ZBTB33 ZNF512B ZKSCAN1 GH2 CSH2 FTSJ3
GH17J063877 Enhancer 0.2 Ensembl 0.6 +3.6 3643 1.4 FTSJ3 CSH2 GH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GH2 gene promoter:
  • Arnt
  • COMP1
  • CUTL1
  • POU3F1

Genomic Locations for GH2 Gene

Genomic Locations for GH2 Gene
chr17:63,880,212-63,881,944
(GRCh38/hg38)
Size:
1,733 bases
Orientation:
Minus strand
chr17:61,957,572-61,959,295
(GRCh37/hg19)
Size:
1,724 bases
Orientation:
Minus strand

Genomic View for GH2 Gene

Genes around GH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GH2 Gene

Proteins for GH2 Gene

  • Protein details for GH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01242-SOM2_HUMAN
    Recommended name:
    Growth hormone variant
    Protein Accession:
    P01242
    Secondary Accessions:
    • B1A4H5
    • B1A4H7
    • O14643
    • O14644
    • P09587

    Protein attributes for GH2 Gene

    Size:
    217 amino acids
    Molecular mass:
    25000 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for GH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GH2 Gene

Post-translational modifications for GH2 Gene

  • Glycosylation at Asn166
  • Modification sites at PhosphoSitePlus

Other Protein References for GH2 Gene

No data available for DME Specific Peptides for GH2 Gene

Domains & Families for GH2 Gene

Gene Families for GH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted secreted proteins

Protein Domains for GH2 Gene

Suggested Antigen Peptide Sequences for GH2 Gene

GenScript: Design optimal peptide antigens:
  • HCG1749481, isoform CRA_x (B1A4H5_HUMAN)
  • cDNA, FLJ92481, Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA (B1A4H7_HUMAN)
  • GH2 protein (Q6FH32_HUMAN)
  • GH2 protein (Q6FH54_HUMAN)
  • Placenta-specific growth hormone (SOM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01242

UniProtKB/Swiss-Prot:

SOM2_HUMAN :
  • Belongs to the somatotropin/prolactin family.
Family:
  • Belongs to the somatotropin/prolactin family.
genes like me logo Genes that share domains with GH2: view

Function for GH2 Gene

Molecular function for GH2 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
growth hormone 2 (V,variant),placental,22kDa,with two alternatively spliced isoforms (GHV3) without a transmembrane domain,20kDa (GHV2 with a transmembrane domain

Phenotypes From GWAS Catalog for GH2 Gene

Gene Ontology (GO) - Molecular Function for GH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005131 growth hormone receptor binding IBA 21873635
GO:0005179 hormone activity IEA,IBA 21873635
GO:0008083 growth factor activity IBA 21873635
genes like me logo Genes that share ontologies with GH2: view
genes like me logo Genes that share phenotypes with GH2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GH2 Gene

Localization for GH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GH2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GH2 gene
Compartment Confidence
extracellular 5
endosome 4
plasma membrane 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA 21873635
GO:0031904 endosome lumen TAS --
genes like me logo Genes that share ontologies with GH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GH2 Gene

Pathways & Interactions for GH2 Gene

PathCards logo

SuperPathways for GH2 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with GH2: view

Pathways by source for GH2 Gene

56 Qiagen pathways for GH2 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for GH2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0031667 response to nutrient levels IBA 21873635
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IBA 21873635
GO:0045927 positive regulation of growth IBA 21873635
GO:0046427 positive regulation of JAK-STAT cascade IBA 21873635
genes like me logo Genes that share ontologies with GH2: view

Drugs & Compounds for GH2 Gene

(1) Drugs for GH2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for GH2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GH2: view

Transcripts for GH2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GH2 Gene

No ASD Table

Relevant External Links for GH2 Gene

GeneLoc Exon Structure for
GH2
ECgene alternative splicing isoforms for
GH2

Expression for GH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GH2 Gene

This gene is overexpressed in Pituitary (x51.9).

Protein differential expression in normal tissues from HIPED for GH2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GH2 Gene



Protein tissue co-expression partners for GH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GH2 Gene:

GH2

SOURCE GeneReport for Unigene cluster for GH2 Gene:

Hs.406754

mRNA Expression by UniProt/SwissProt for GH2 Gene:

P01242-SOM2_HUMAN
Tissue specificity: Expressed in the placenta.

Evidence on tissue expression from TISSUES for GH2 Gene

  • Nervous system(3)
genes like me logo Genes that share expression patterns with GH2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GH2 Gene

Orthologs for GH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GH2 33 32
  • 99.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GH1 33
  • 50 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 33
  • 50 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gh 33
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GH1 33
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH1 33
  • 42 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 36 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.587 32
zebrafish
(Danio rerio)
Actinopterygii gh1 33
  • 30 (a)
OneToMany
Species where no ortholog for GH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GH2 Gene

ENSEMBL:
Gene Tree for GH2 (if available)
TreeFam:
Gene Tree for GH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GH2: view image

Paralogs for GH2 Gene

Paralogs for GH2 Gene

(4) SIMAP similar genes for GH2 Gene using alignment to 3 proteins:

  • SOM2_HUMAN
  • Q6FH32_HUMAN
  • Q6FH54_HUMAN
genes like me logo Genes that share paralogs with GH2: view

Variants for GH2 Gene

Sequence variations from dbSNP and Humsavar for GH2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1001582760 -- 63,881,306(-) AAA/AA intron_variant
rs1002621337 -- 63,880,025(-) G/C downstream_transcript_variant
rs1004835047 -- 63,882,497(-) A/G upstream_transcript_variant
rs1005032173 -- 63,881,603(-) /C intron_variant
rs1006034625 -- 63,880,557(-) G/A coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for GH2 Gene

Variant ID Type Subtype PubMed ID
dgv582e214 CNV loss 21293372
dgv960e212 CNV loss 25503493
esv26789 CNV loss 19812545
esv2716098 CNV deletion 23290073
esv2716099 CNV deletion 23290073
esv2762566 CNV loss 21179565
esv3573787 CNV gain 25503493
esv3582856 CNV loss 25503493
esv3641010 CNV loss 21293372
esv3641011 CNV gain 21293372
esv3641012 CNV loss 21293372
nsv111804 CNV deletion 16902084
nsv436234 CNV deletion 17901297
nsv510720 CNV deletion 20534489
nsv517272 CNV gain+loss 19592680
nsv575855 CNV loss 21841781
nsv833510 CNV loss 17160897
nsv833511 CNV loss 17160897
nsv954553 CNV deletion 24416366
nsv960135 CNV duplication 23825009

Variation tolerance for GH2 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GH2 Gene

Human Gene Mutation Database (HGMD)
GH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GH2 Gene

Disorders for GH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GH2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
protein-deficiency anemia
  • anemia due to protein deficiency
choriocarcinoma
  • chorioepithelioma
gastroduodenitis
- elite association - COSMIC cancer census association via MalaCards
Search GH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GH2 Gene

Publications for GH2 Gene

  1. Cloning of two novel growth hormone transcripts expressed in human placenta. (PMID: 9709963) Boguszewski CL … Carlsson B (The Journal of clinical endocrinology and metabolism 1998) 3 4 23 56
  2. Identification of placental human growth hormone as the growth hormone-V gene expression product. (PMID: 2196278) Frankenne F … Hennen G (The Journal of clinical endocrinology and metabolism 1990) 3 4 23 56
  3. hGH-V gene expression and promoter activity under glucose and 5-azacytidine (5azaC) effects. (PMID: 20005926) de Jesús Romero-Prado MM … Castrillo-Diez JL (Gene 2010) 3 23 56
  4. A population-based study of IGF axis polymorphisms and the esophageal inflammation, metaplasia, adenocarcinoma sequence. (PMID: 20403354) McElholm AR … Finbar Group (Gastroenterology 2010) 3 43 56
  5. Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes. (PMID: 18473352) Sedman L … Laan M (Human mutation 2008) 4 23 56

Products for GH2 Gene

Sources for GH2 Gene