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

Gene ID: 1443, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63872012..63873729, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64742822..64744539, complement)
105.20220307 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, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 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
  • 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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Related articles in PubMed

  1. Type I collagen synthesis by human osteoblasts in response to placental lactogen and chaperonin 10, a homolog of early-pregnancy factor. Mansell JP, et al. In Vitro Cell Dev Biol Anim, 2002 Oct. PMID 12703979
  2. Two structurally different genes produce the same secreted human placental lactogen hormone. Barrera-Saldaña HA, et al. J Biol Chem, 1983 Mar 25. PMID 6300056
  3. Multiple origins of transcription for the human placental lactogen genes. Selvanayagam CS, et al. J Biol Chem, 1984 Dec 10. PMID 6209277
  4. Analysis of a major human chorionic somatomammotropin gene. Evidence for two functional promoter elements. Selby MJ, et al. J Biol Chem, 1984 Nov 10. PMID 6208192
  5. Amino-acid sequence of human placental lactogen. Sherwood LM, et al. Nat New Biol, 1971 Sep 8. PMID 5286363

See all (31) citations in PubMed

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 growth 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 positive regulation of tyrosine phosphorylation of STAT protein 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
    P01243, P0DML3, Q0VDB1, Q14407
    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_2023_10

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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