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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CSH2 Gene

protein-coding   GIFtS: 53
GCID: GC17M061949

chorionic somatomammotropin hormone 2

 Explore 10 diseases affiliated with
CSH2 via our new
 Human Malady Compendium 
Biological research products
for CSH2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chorionic Somatomammotropin Hormone 21 2     Chorionic Somatomammotropin B2
CSB1 2 5     Choriomammotropin3
CS-21 2     Lactogen3
HCS-B1     PL3
Placental Lactogen2 3     

External Ids:    HGNC: 24411   Entrez Gene: 14432   Ensembl: ENSG000002132187   OMIM: 1188205   UniProtKB: P012433   

Export aliases for CSH2 gene to outside databases

Previous GC identifers: GC17M061599 GC17M064375 GC17M062290 GC17M062423 GC17M062426 GC17M059303 GC17M057317


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CSH2:
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)

UniProtKB/Swiss-Prot: CSH_HUMAN, P01243
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CSH2 gene promoter:
         HFH-1   POU3F1   COMP1   CUTL1   Arnt   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CSH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q22-q24

CSH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSH2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M061949:  view genomic region     (about GC identifiers)

Start:
61,949,372 bp from pter      End:
61,951,126 bp from pter
Size:
1,755 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CSH_HUMAN, P01243 (See protein sequence)
Recommended Name: Chorionic somatomammotropin hormone precursor  
Size: 217 amino acids; 25020 Da
Subcellular location: Secreted
Miscellaneous: The sequence of CSH1 is shown
1 PDB 3D structure from and Proteopedia for CSH2:
1Z7C (3D)    
Secondary accessions: Q0VDB1 Q14407

Explore the universe of human proteins at neXtProt for CSH2: NX_P01243

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P01243

  • CSH2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_066271.1  NP_072170.1  NP_072171.1  

    ENSEMBL proteins: 
     ENSP00000453828   ENSP00000376623   ENSP00000338816   ENSP00000453452   ENSP00000308396  
    Reactome Protein details: P01243
    Human Recombinant Protein Products: 
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    Uscn Proteins for CSH2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----


    CSH2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CSH2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR018116 Somatotropin_CS
     IPR012351 4_helix_cytokine_core
     IPR009079 4_helix_cytokine-like_core
     IPR001400 Somatotropin

    Graphical View of Domain Structure for InterPro Entry P01243

    ProtoNet protein and cluster: P01243

    1 Blocks protein family: IPB001400 Somatotropin hormone

    UniProtKB/Swiss-Prot: CSH_HUMAN, P01243
    Similarity: Belongs to the somatotropin/prolactin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CSH_HUMAN, P01243
    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

         Genatlas biochemistry entry for CSH2:
    chorionic somatomammotropin hormone 2 (see GH@)

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity ----
    GO:0046872metal ion binding ----


    CSH2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Prolactin receptor signaling
    Development Prolactin receptor signaling1.00
    Development_Prolactin receptor signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CSH2
        Development Prolactin receptor signaling


    1 GeneGo (Thomson Reuters) Pathway for CSH2
        Development Prolactin receptor signaling

    5/12        Reactome Pathways for CSH2 (see all 12)
        PRLR activation
    Cytokine Signaling in Immune system
    JAK2 phosphorylation
    PRLR is phosphorylated at Ser-349
    Prolactin receptor signaling



    CSH2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/7 Interacting proteins for CSH2 (P012432, 3 ENSP000003766234) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3, ENSP000002621604MINT-60918 I2D: score=2 STRING: ENSP00000262160
    PTPN12Q052092, 3MINT-61776 I2D: score=2 
    SMAD4Q134852, 3, ENSP000003415514MINT-61946 I2D: score=2 STRING: ENSP00000341551
    SMAD9O151982, 3, ENSP000003691544MINT-62064 I2D: score=2 STRING: ENSP00000369154
    SMAD3P840223, ENSP000003329734I2D: score=2 STRING: ENSP00000332973
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007565female pregnancy ----
    GO:0060397JAK-STAT cascade involved in growth hormone signaling pathway ----


    CSH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CSH2
    Search CenterWatch for drugs/clinical trials and news about CSH2 / CSH 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CSH2 gene (3 alternative transcripts): 
    NM_020991.3  NM_022644.3  NM_022645.2  

    Unigene Cluster for CSH2:

    Chorionic somatomammotropin hormone 2
    Hs.654515  [show with all ESTs]
    Unigene Representative Sequence: BG622999
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560181 ENST00000392886(uc002jch.3 uc002jcg.3) ENST00000336844(uc002jci.3)
    ENST00000560142 ENST00000559928 ENST00000558516 ENST00000345366

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    Additional cDNA sequence: 

    AB019574.1 BC022044.1 BC035965.1 BC111536.1 BC119748.2 V00573.1 

    24/125 DOTS entries (see all 125):

    DT.92434084  DT.100715479  DT.95278368  DT.100838861  DT.91766654  DT.92061817  DT.100715496  DT.100715602 
    DT.100715588  DT.100715551  DT.95092424  DT.100715566  DT.100862539  DT.100715547  DT.100715495  DT.97868481 
    DT.100715507  DT.87015311  DT.92455957  DT.100715518  DT.100862608  DT.100059909  DT.100715567  DT.91810789 

    24/442 AceView cDNA sequences (see all 442):

    CR626395 CR616436 CR610881 CR618470 CR625104 CR606041 CR615978 CR601342 
    CR590802 NM_022646 CR624232 CR612166 CR601370 CR616611 CR614793 CR624505 
    CR602888 CR622910 CR610435 CR624724 CR610209 CR605365 CR607493 CR618132 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CSH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CSH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CSH2

    SOURCE GeneReport for Unigene cluster: Hs.654515
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CSH2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CSH2 gene from 3/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SOMA_CHICK6
    Somatotropin
    54(a)
    1 → many
    27(1522166-1526523)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    45(a)
    1 → many
    6(63429195-63436554)
    zebrafish
    (Danio rerio)
    Actinopterygii gh16
    smtla6
    (see all 3)
    somatolactin alpha
    (see all 3)
    33(a)
    23(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    3(22540799-22545974)
    18(46620558-46629935)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CSH2 gene
    CSH11 2  GH22  PRL2  CSHL12  GH12  
    4 SIMAP similar genes for CSH2 using alignment to 5 protein entries:     CSH_HUMAN (see all proteins):
    CSHL1    CSH1    GH1    GH2

    CSH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/101 NCBI SNPs in CSH2 are shown (see all 101    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502260541,2
    --61948933(+) CGAGAA/GTAGTT 3 -- ds50010--------
    rs1387763701,2
    --61948953(+) GAATAC/TTCATC 3 -- ds50010--------
    rs22572811,2
    C,F,A,H,--61949023(-) CAGAGA/GCAAAA 3 -- ds50017Minor allele frequency- G:0.30NS EA NA WA 422
    rs1459130261,2
    --61949060(+) TTCTTC/TCCGCT 3 -- ds50010--------
    rs1389314591,2
    --61949090(+) TGTTGC/GTGGTG 3 -- ds50010--------
    rs1849249461,2
    --61949109(+) GGAGGA/GAGAAA 3 -- ds50010--------
    rs1429357431,2
    --61949134(+) CTCTGA/GGATGA 3 -- ds50010--------
    rs1899509741,2
    --61949205(+) ATAGCA/GGTGAT 3 -- ds50010--------
    rs1821896351,2
    --61949211(+) GTGATA/GTGTCA 3 -- ds50010--------
    rs1159469331,2
    C,--61949244(+) GCCAAA/GCCTCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CSH2 (61949372 - 61951126 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CSH2
         1 CNV: 22888

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CSH2 for disorders           About GeneDecksing

    OMIM gene information: 118820    OMIM disorders: --

    10 diseases for CSH2:    About MalaCards
    gestational trophoblastic neoplasm    trophoblastic neoplasm    epithelioid trophoblastic tumor    placental abruption
    placental insufficiency    spontaneous abortion    noonan syndrome    cockayne syndrome
    choriocarcinoma    thyroiditis

    6 diseases from the University of Copenhagen DISEASES database for CSH2:
    Choriocarcinoma     Epithelioid trophoblastic tumor     Cockayne syndrome     Gestational trophoblastic neoplasm
    Placental insufficiency     Hypertension

    1 Novoseek disease relationship for CSH2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choriocarcinoma 73 2 1708334 (1), 8472847 (1)

    Genetic Association Database (GAD): CSH2
    Human Genome Epidemiology (HuGE) Navigator: CSH2 (1 document)

    Export disorders for CSH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CSH2 gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with CSH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of a major human chorionic somatomammotropin gene. Evidence for two functional promoter elements. (PubMed id 6208192)1, 2, 3 Selby M.J.... Eberhardt N.L. (1984)
    2. Construction and analysis of recombinant DNA for human chorionic somatomammotropin. (PubMed id 593368)1, 2, 3 Shine J.... Goodman H.M. (1977)
    3. Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster. (PubMed id 15531513)1, 4 Day I.N....Phillips D.I. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The human growth hormone locus: nucleotide sequence, biology, and evolution. (PubMed id 2744760)1, 2 Chen E.Y....Seeburg P.H. (1989)
    6. The human growth hormone gene locus: structure, evolution, and allelic variations. (PubMed id 3030680)1, 2 Hirt H.... Barta A. (1987)
    7. Two structurally different genes produce the same secreted human placental lactogen hormone. (PubMed id 6300056)1, 2 Barrera-Saldana H.A.... Saunders G.F. (1983)
    8. The human growth hormone gene family: nucleotide sequences show recent divergence and predict a new polypeptide hormone. (PubMed id 7169009)1, 2 Seeburg P.H. (1982)
    9. Identification of the interchain disulfide bonds of dimeric human placental lactogen. (PubMed id 438159)1, 2 Schneider A.B.... Sherwood L.M. (1979)
    10. Amino acid sequence of human chorionic somatomammotropin. (PubMed id 4712450)1, 2 Li C.H.... Chung D. (1973)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1443 HGNC: 2441 AceView: CSH1andGH2andCSH2 Ensembl:ENSG00000213218 euGenes: HUgn1443
    ECgene: CSH2 H-InvDB: CSH2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for CSH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for CSH2 gene:
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