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Aliases for CSH2 Gene

Aliases for CSH2 Gene

  • Chorionic Somatomammotropin Hormone 2 2 3 5
  • Placental Lactogen 2 3 4
  • Chorionic Somatomammotropin B 2 3
  • Choriomammotropin 3 4
  • Lactogen 3 4
  • PL 3 4
  • Growth Hormone B1 3
  • HCS-B 3
  • CS-2 3
  • GHB1 3
  • CSB 3

External Ids for CSH2 Gene

Previous GeneCards Identifiers for CSH2 Gene

  • GC17M061599
  • GC17M064375
  • GC17M062290
  • GC17M062423
  • GC17M062426
  • GC17M059303
  • GC17M061949
  • GC17M057317

Summaries for CSH2 Gene

Entrez Gene Summary for CSH2 Gene

  • The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008]

GeneCards Summary for CSH2 Gene

CSH2 (Chorionic Somatomammotropin Hormone 2) is a Protein Coding gene. Diseases associated with CSH2 include Testicular Trophoblastic Tumor and Choriocarcinoma. Among its related pathways are Peptide ligand-binding receptors and Prolactin Signaling Pathway. GO annotations related to this gene include hormone activity. An important paralog of this gene is CSH1.

UniProtKB/Swiss-Prot for CSH2 Gene

  • Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSH2 Gene

Genomics for CSH2 Gene

Regulatory Elements for CSH2 Gene

Enhancers for CSH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G063837 1.8 FANTOM5 ENCODE dbSUPER 19.5 +32.8 32795 7.4 CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 FTSJ3 CEP95 DDX42 POLG2 CSH2 DDX5 PLEKHM1P1 EEF1DP7 ENSG00000265982 MAP3K3
GH17G063848 1.3 ENCODE dbSUPER 19 +24.6 24575 1.5 HDGF PKNOX1 FOXA2 CREB3L1 ARNT SIN3A YY1 ZNF766 CBX5 ZNF207 DDX42 CSH2 CEP95 TCAM1P SMARCD2
GH17G063930 1.4 Ensembl ENCODE dbSUPER 17.4 -57.8 -57835 3.2 ELF3 HDGF WRNIP1 YBX1 ZNF121 EGR1 RELB IKZF2 JUNB ELF1 FTSJ3 CD79B CSH2 GH1
GH17G063771 1.4 ENCODE dbSUPER 16.9 +99.7 99659 5.4 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 FTSJ3 CSH2 DDX42 CEP95 CCDC47 GC17M063765
GH17G063694 1.3 ENCODE dbSUPER 16.7 +174.5 174495 10.2 HDGF PKNOX1 AGO1 WRNIP1 ARID4B SIN3A ZNF48 ZBTB7B GLIS2 ELK1 FTSJ3 CSH2 STRADA ENSG00000125695 PSMC5 TCAM1P GC17M063699 PIR54058 GC17M063698
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CSH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CSH2 Gene

Chromosome:
17
Start:
63,872,012 bp from pter
End:
63,873,766 bp from pter
Size:
1,755 bases
Orientation:
Minus strand

Genomic View for CSH2 Gene

Genes around CSH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSH2 Gene

Proteins for CSH2 Gene

  • Protein details for CSH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DML3-CSH2_HUMAN
    Recommended name:
    Chorionic somatomammotropin hormone 2
    Protein Accession:
    P0DML3
    Secondary Accessions:
    • P01243
    • Q0VDB1
    • Q14407

    Protein attributes for CSH2 Gene

    Size:
    217 amino acids
    Molecular mass:
    24994 Da
    Quaternary structure:
    • Can be found in a monomeric as well as dimeric form.
    Miscellaneous:
    • CSH2 sequence only differs from CSH1 sequence in 1 aa.

    Alternative splice isoforms for CSH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSH2 Gene

Post-translational modifications for CSH2 Gene

No Post-translational modifications

Other Protein References for CSH2 Gene

No data available for DME Specific Peptides for CSH2 Gene

Domains & Families for CSH2 Gene

Gene Families for CSH2 Gene

Suggested Antigen Peptide Sequences for CSH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0DML3

UniProtKB/Swiss-Prot:

CSH2_HUMAN :
  • Belongs to the somatotropin/prolactin family.
Family:
  • Belongs to the somatotropin/prolactin family.
genes like me logo Genes that share domains with CSH2: view

Function for CSH2 Gene

Molecular function for CSH2 Gene

GENATLAS Biochemistry:
chorionic somatomammotropin hormone 2 (see GH@)
UniProtKB/Swiss-Prot Function:
Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization.

Gene Ontology (GO) - Molecular Function for CSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CSH2: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CSH2 Gene

Localization for CSH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSH2 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 CSH2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IDA 6930851
GO:0031982 vesicle IDA 6930851
genes like me logo Genes that share ontologies with CSH2: view

Pathways & Interactions for CSH2 Gene

genes like me logo Genes that share pathways with CSH2: view

Pathways by source for CSH2 Gene

Interacting Proteins for CSH2 Gene

Gene Ontology (GO) - Biological Process for CSH2 Gene

None

No data available for SIGNOR curated interactions for CSH2 Gene

Drugs & Compounds for CSH2 Gene

No Compound Related Data Available

Transcripts for CSH2 Gene

Unigene Clusters for CSH2 Gene

Chorionic somatomammotropin hormone 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSH2 Gene

No ASD Table

Relevant External Links for CSH2 Gene

GeneLoc Exon Structure for
CSH2
ECgene alternative splicing isoforms for
CSH2

Expression for CSH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSH2 Gene

This gene is overexpressed in Testis (x29.0), Pituitary (x6.8), Adipose - Subcutaneous (x5.0), Brain - Cerebellum (x4.8), and Brain - Cerebellar Hemisphere (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of CSH2 Gene:

CSH2

SOURCE GeneReport for Unigene cluster for CSH2 Gene:

Hs.654515

Evidence on tissue expression from TISSUES for CSH2 Gene

  • Intestine(2.4)
  • Blood(2.2)
  • Liver(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with CSH2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSH2 Gene

Orthologs for CSH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PL-D 34
  • 98.16 (n)
CSHL1 35 35
  • 98 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia GH1 35
  • 63 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 35
  • 63 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gh 35
  • 60 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GH1 35
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH1 35
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gh1 35
  • 34 (a)
OneToMany
Species where no ortholog for CSH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 CSH2 Gene

ENSEMBL:
Gene Tree for CSH2 (if available)
TreeFam:
Gene Tree for CSH2 (if available)

Paralogs for CSH2 Gene

Paralogs for CSH2 Gene

(4) SIMAP similar genes for CSH2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CSH2: view

Variants for CSH2 Gene

Sequence variations from dbSNP and Humsavar for CSH2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000434208 -- 63,873,423(+) TTTTT(-/TC)TCTCT intron-variant
rs1003241292 -- 63,874,955(+) CTCAG(C/T)CAGGG upstream-variant-2KB
rs1004246923 -- 63,873,683(+) GAGCC(A/G)GTCTC utr-variant-5-prime
rs1004299147 -- 63,874,024(+) CTACC(C/G)ACCCC upstream-variant-2KB
rs1005243826 -- 63,872,426(+) AGAAG(G/T)GCCTG intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CSH2 Gene

Variant ID Type Subtype PubMed ID
dgv582e214 CNV loss 21293372
dgv960e212 CNV loss 25503493
esv2716098 CNV deletion 23290073
esv2716099 CNV deletion 23290073
esv3573787 CNV gain 25503493
esv3582856 CNV loss 25503493
nsv436234 CNV deletion 17901297
nsv510720 CNV deletion 20534489
nsv517272 CNV gain+loss 19592680
nsv833510 CNV loss 17160897
nsv833511 CNV loss 17160897
nsv954553 CNV deletion 24416366
nsv960135 CNV duplication 23825009

Variation tolerance for CSH2 Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSH2 Gene

Disorders for CSH2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CSH2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
testicular trophoblastic tumor
choriocarcinoma
  • chorioepithelioma
juvenile type testicular granulosa cell tumor
  • juvenile granulosa cell tumor
testicular granulosa cell tumor
  • granulosa cell tumor of testis
choriocarcinoma of ovary
  • ovarian choriocarcinoma
- elite association - COSMIC cancer census association via MalaCards
Search CSH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CSH2

Genetic Association Database (GAD)
CSH2
Human Genome Epidemiology (HuGE) Navigator
CSH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSH2
genes like me logo Genes that share disorders with CSH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSH2 Gene

Publications for CSH2 Gene

  1. Construction and analysis of recombinant DNA for human chorionic somatomammotropin. (PMID: 593368) Shine J. … Goodman H.M. (Nature 1977) 2 3 4 64
  2. Complex signatures of locus-specific selective pressures and gene conversion on human growth hormone/chorionic somatomammotropin genes. (PMID: 18473352) Sedman L. … Laan M. (Hum. Mutat. 2008) 4 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster. (PMID: 15531513) Day I.N. … Phillips D.I. (J. Clin. Endocrinol. Metab. 2004) 3 46 64
  5. Splicing variants of the human growth hormone mRNA: detection in pituitary, mononuclear cells and dermal fibroblasts. (PMID: 8674830) Palmetshofer A. … Barta A. (Mol. Cell. Endocrinol. 1995) 3 22 64

Products for CSH2 Gene

Sources for CSH2 Gene

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