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    CSH2 chorionic somatomammotropin hormone 2 [ Homo sapiens (human) ]

    Gene ID: 1443, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CSH2provided by HGNC
    Official Full Name
    chorionic somatomammotropin hormone 2provided by HGNC
    Primary source
    HGNC:HGNC:2441
    See related
    Ensembl:ENSG00000213218 MIM:118820; AllianceGenome:HGNC:2441
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PL; CSB; CS-2; GHB1; hCS-B
    Summary
    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]
    Expression
    Restricted expression toward placenta (RPKM 5535.3) See more
    Orthologs
    all
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    Genomic context

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    See CSH2 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63872012..63873729, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64742822..64744539, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61949372..61951089, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12563 Neighboring gene SWI/SNF related BAF chromatin remodeling complex subunit D2 Neighboring gene Sharpr-MPRA regulatory region 8123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8833 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4273 Neighboring gene Sharpr-MPRA regulatory region 5702 Neighboring gene testicular cell adhesion molecule 1, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61958700-61959660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8834 Neighboring gene growth hormone 2 Neighboring gene chorionic somatomammotropin hormone 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results are consistent with a pleiotropic effect of placental hGH/CSH genes at the maternal-fetal interface relating to the regulation of fetal growth and the risk of affected maternal metabolism.
      Title: Differential placental expression profile of human Growth Hormone/Chorionic Somatomammotropin genes in pregnancies with pre-eclampsia and gestational diabetes mellitus.
    2. Data conclude that members of the C/EBP and Ets families can differentially modulate CS-Benh and CS-Aenh activity.
      Title: Identification of functional CCAAT/enhancer-binding protein and Ets protein binding sites in the human chorionic somatomammotropin enhancer sequences.
    3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster.
    4. Cpn10 and placental lactogen are capable of stimulating the synthesis of type I collagen by human osteoblasts in culture
      Title: Type I collagen synthesis by human osteoblasts in response to placental lactogen and chaperonin 10, a homolog of early-pregnancy factor.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CSH1

    Potential readthrough

    Included gene: GH2

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in growth hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to nutrient levels IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    chorionic somatomammotropin hormone 2
    Names
    choriomammotropin
    chorionic somatomammotropin B
    growth hormone B1
    lactogen
    placental lactogen

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020991.4 → NP_066271.1  chorionic somatomammotropin hormone 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_066271.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) utilizes all five exons, resulting in the longest, most abundant isoform (1).
      Source sequence(s)
      AC015651
      Consensus CDS
      CCDS42369.1
      UniProtKB/Swiss-Prot
      P0DML3
      UniProtKB/TrEMBL
      A0A0M6L0F6, Q6PF11
      Related
      ENSP00000376623.2, ENST00000392886.7
      Conserved Domains (1) summary
      cd10285
      Location:35 → 215
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

    2. NM_022644.3 → NP_072170.1  chorionic somatomammotropin hormone 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_072170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains intron D and encodes an isoform (2) that diverges from all other CS isoforms in the carboxy-terminus due to a frameshift. Early truncation occurs relative to a similarly spliced variant of chorionic somatomammotropin hormone 1.
      Source sequence(s)
      EU421716
      Consensus CDS
      CCDS11646.1
      UniProtKB/TrEMBL
      A6NIT4
      Related
      ENSP00000338816.5, ENST00000336844.9
      Conserved Domains (1) summary
      cl07831
      Location:35 → 167
      growth_hormone_like; Somatotropin/prolactin hormone family

    3. NM_022645.2 → NP_072171.1  chorionic somatomammotropin hormone 2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_072171.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks exons 3 and 4, and encodes an isoform (3) that has an internal deletion relative to isoform 1, but retains the signal sequence, unlike the other exon skipping isoform (4).
      Source sequence(s)
      J03071
      Consensus CDS
      CCDS42368.1
      UniProtKB/TrEMBL
      B1A4H2, B1A4H9
      Related
      ENSP00000308396.10, ENST00000345366.8
      Conserved Domains (1) summary
      cl07831
      Location:58 → 120
      growth_hormone_like; Somatotropin/prolactin hormone family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63872012..63873729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64742822..64744539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022646.2: Suppressed sequence

      Description
      NM_022646.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DML3.1 GenPept UniProtKB/Swiss-Prot:P0DML3

    Gene LinkOut

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