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    PSG11 pregnancy specific beta-1-glycoprotein 11 [ Homo sapiens (human) ]

    Gene ID: 5680, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PSG11provided by HGNC
    Official Full Name
    pregnancy specific beta-1-glycoprotein 11provided by HGNC
    Primary source
    HGNC:HGNC:9516
    See related
    Ensembl:ENSG00000243130 MIM:176401; AllianceGenome:HGNC:9516
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSG13; PSG14; PSBG-11; PSBG-13
    Summary
    The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
    Expression
    Restricted expression toward placenta (RPKM 77.7) See more
    Orthologs
    all
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    Genomic context

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    See PSG11 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (43007656..43026469, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45828237..45847052, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (43511808..43530621, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene pregnancy specific beta-1-glycoprotein 7 Neighboring gene CEA cell adhesion molecule pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:43497577-43497773 Neighboring gene CEA cell adhesion molecule pseudogene 8 Neighboring gene pregnancy specific beta-1-glycoprotein 2

    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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    Related articles in PubMed

    1. Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. Zhao L, et al. BMC Pregnancy Childbirth, 2012 Jun 29. PMID 22748001, Free PMC Article
    2. Cloning and expression of a new pregnancy-specific beta 1-glycoprotein member. Plouzek CA, et al. Biochem Biophys Res Commun, 1991 May 15. PMID 1840485
    3. Characterization of cDNA encoding novel pregnancy-specific glycoprotein variants. Teglund S, et al. Biochem Biophys Res Commun, 1995 Jun 15. PMID 7794280
    4. The human pregnancy-specific glycoprotein genes are tightly linked on the long arm of chromosome 19 and are coordinately expressed. Thompson J, et al. Biochem Biophys Res Commun, 1990 Mar 16. PMID 1690992
    5. Gene organization of the pregnancy-specific glycoprotein region on human chromosome 19: assembly and analysis of a 700-kb cosmid contig spanning the region. Olsen A, et al. Genomics, 1994 Oct. PMID 7851895

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. recurrent deletions that may confer risk for preeclampsia include a potentially functionally important copy-number deletion in the PSG11 gene.
      Title: Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    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: PSG6

    Homology

    Clone Names

    • MGC22484

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in female pregnancy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pregnancy-specific beta-1-glycoprotein 11
    Names
    PS-beta-G-11
    PS-beta-G-13
    pregnancy-specific beta-1-glycoprotein 13

    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_001113410.2 → NP_001106881.1  pregnancy-specific beta-1-glycoprotein 11 isoform 2

      See identical proteins and their annotated locations for NP_001106881.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC005947, BC020711, BE767872, R66665
      Consensus CDS
      CCDS12615.2
      Related
      ENSP00000385427.1, ENST00000403486.5
      Conserved Domains (3) summary
      smart00410
      Location:124 → 196
      IG_like; Immunoglobulin like
      pfam13895
      Location:120 → 198
      Ig_2; Immunoglobulin domain
      cl11960
      Location:26 → 114
      Ig; Immunoglobulin domain

    2. NM_002785.3 → NP_002776.3  pregnancy-specific beta-1-glycoprotein 11 isoform 1 precursor

      See identical proteins and their annotated locations for NP_002776.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC005947, BC020711, BE767872, BF084984, BG619770, R66665
      Consensus CDS
      CCDS12614.2
      UniProtKB/Swiss-Prot
      Q13179, Q15242, Q8WW91, Q9UNE4, Q9UQ72
      UniProtKB/TrEMBL
      A0A0F7CSH9
      Related
      ENSP00000319140.7, ENST00000320078.12
      Conserved Domains (3) summary
      cd05740
      Location:148 → 236
      IgI_hCEACAM_2_4_6_like; Immunoglobulin (Ig)-like domain of human carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM) domains 2, 4, and 6, and similar domains
      cd05774
      Location:36 → 138
      IgV_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
      cd20948
      Location:246 → 320
      IgC2_CEACAM5-like; Fifth immunoglobulin (Ig)-like domain of the carcinoembryonic antigen (CEA) related cell adhesion molecule 5 (CEACAM5) and similar domains; member of the C2-set IgSF domains

    3. NM_203287.2 → NP_976032.2  pregnancy-specific beta-1-glycoprotein 11 isoform 2

      See identical proteins and their annotated locations for NP_976032.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC005947, BC020711, R66665
      Consensus CDS
      CCDS12615.2
      Related
      ENSP00000304913.6, ENST00000306322.7
      Conserved Domains (3) summary
      smart00410
      Location:124 → 196
      IG_like; Immunoglobulin like
      pfam13895
      Location:120 → 198
      Ig_2; Immunoglobulin domain
      cl11960
      Location:26 → 114
      Ig; Immunoglobulin domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      43007656..43026469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      45828237..45847052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQ72.3 GenPept UniProtKB/Swiss-Prot:Q9UQ72

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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