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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
  • 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 genital herpes and isolated growth hormone deficiency. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include hormone activity. An important paralog of this gene is CSHL1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GH2 Gene

Genomics for GH2 Gene

Regulatory Elements for GH2 Gene

Genomic Location for GH2 Gene

Chromosome:
17
Start:
63,880,212 bp from pter
End:
63,881,942 bp from pter
Size:
1,731 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

Proteomics data for GH2 Gene at MOPED

Post-translational modifications for GH2 Gene

  • Glycosylation at Asn 166
  • Modification sites at PhosphoSitePlus

Other Protein References for GH2 Gene

Antibody Products

No data available for DME Specific Peptides for GH2 Gene

Domains & Families for GH2 Gene

Gene Families for GH2 Gene

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

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
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.
genes like me logo Genes that share phenotypes with GH2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GH2 Gene COMPARTMENTS Subcellular localization image for GH2 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for GH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS --
genes like me logo Genes that share ontologies with GH2: view

Pathways & Interactions for GH2 Gene

genes like me logo Genes that share pathways with GH2: view

Interacting Proteins for GH2 Gene

Gene Ontology (GO) - Biological Process for GH2 Gene

None

No data available for SIGNOR curated interactions for GH2 Gene

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

Unigene Clusters for GH2 Gene

Growth hormone 2:
Representative Sequences:

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 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, PaxDb, and MOPED for GH2 Gene



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.
genes like me logo Genes that share expression patterns with GH2: view

Protein tissue co-expression partners for GH2 Gene

Primer Products

In Situ Assay Products

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 36
  • 76 (a)
OneToOne
GH2 35
  • 99.08 (n)
  • 99.08 (a)
cow
(Bos Taurus)
Mammalia GH1 36
  • 50 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 36
  • 50 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gh 36
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GH1 36
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH1 36
  • 42 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 36 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.587 35
zebrafish
(Danio rerio)
Actinopterygii gh1 36
  • 30 (a)
OneToMany
Species with no ortholog for GH2:
  • 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)

Paralogs for GH2 Gene

Paralogs for GH2 Gene

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

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 Sequence Context AA Info Type
rs1985921 -- 63,880,599(-) AGGGG(A/G)GGGAG intron-variant, reference, missense
rs2466957 -- 63,883,870(-) CTGCT(A/C/G)TGAGG upstream-variant-2KB
rs2466958 -- 63,883,780(-) AAAAT(C/G)AGGCA upstream-variant-2KB
rs2006123 -- 63,881,309(-) GGTGA(A/C)TTTCC intron-variant
rs2727317 -- 63,883,942(-) TTGAA(A/G)TAGCC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv833510 CNV Loss 17160897
nsv510720 CNV Loss 20534489
nsv517272 CNV Gain+Loss 19592680
esv2716098 CNV Deletion 23290073
nsv833511 CNV Loss 17160897
nsv436234 CNV Deletion 17901297
esv2716099 CNV Deletion 23290073
esv26789 CNV Loss 19812545
nsv111804 CNV Loss 16902084

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)

Relevant External Links for GH2 Gene

HapMap Linkage Disequilibrium report
GH2
Human Gene Mutation Database (HGMD)
GH2

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

Disorders for GH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GH2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
genital herpes
  • genital herpes simplex
isolated growth hormone deficiency
  • dwarfism, growth hormone deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GH2

Genetic Association Database (GAD)
GH2
Human Genome Epidemiology (HuGE) Navigator
GH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GH2
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 C.L. … Carlsson B. (J. Clin. Endocrinol. Metab. 1998) 3 4 23 67
  2. hGH-V gene expression and promoter activity under glucose and 5-azacytidine (5azaC) effects. (PMID: 20005926) de JesA_s Romero-Prado M.M. … Castrillo-Diez J.L. (Gene 2010) 3 23
  3. Complex alternative splicing of the GH-V gene in the human testis. (PMID: 9820620) Untergasser G. … Berger P. (Eur. J. Endocrinol. 1998) 3 23
  4. Both pituitary and placental growth hormone transcripts are expressed in human peripheral blood mononuclear cells (PBMC). (PMID: 9367422) Melen L. … Igout A. (Clin. Exp. Immunol. 1997) 3 23
  5. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. (PMID: 1378436) MacLeod J.N. … Cooke N.E. (J. Biol. Chem. 1992) 3 23

Products for GH2 Gene

Sources for GH2 Gene

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