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    PSG8 pregnancy specific beta-1-glycoprotein 8 [ Homo sapiens (human) ]

    Gene ID: 440533, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PSG8provided by HGNC
    Official Full Name
    pregnancy specific beta-1-glycoprotein 8provided by HGNC
    Primary source
    HGNC:HGNC:9525
    See related
    Ensembl:ENSG00000124467 MIM:176397; AllianceGenome:HGNC:9525
    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
    PSG1
    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 46.5) See more
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    Genomic context

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    See PSG8 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42752686..42765678, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45571645..45584627, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (43256838..43269830, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:43179943-43180536 Neighboring gene ribosomal protein S10 pseudogene 28 Neighboring gene pregnancy specific beta-1-glycoprotein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:43245994-43246209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:43278258-43278758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:43278759-43279259 Neighboring gene CEA cell adhesion molecule pseudogene 6 Neighboring gene PSG8 antisense RNA 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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    Related articles in PubMed

    1. Exon-intron organization of a gene for pregnancy-specific beta 1-glycoprotein, a subfamily member of CEA family: implications for its characteristic repetitive domains and C-terminal sequences. Oikawa S, et al. Biochem Biophys Res Commun, 1988 Oct 14. PMID 3263130
    2. Expression of the pregnancy-specific beta 1-glycoprotein genes in human testis. Borjigin J, et al. Biochem Biophys Res Commun, 1990 Jan 30. PMID 2302228
    3. DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes. Coto E, et al. Immunogenetics, 1991. PMID 1672663
    4. The pregnancy-specific glycoprotein family of the immunoglobulin superfamily: identification of new members and estimation of family size. Khan WN, et al. Genomics, 1992 Apr. PMID 1572651
    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 (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Homology

    Clone Names

    • DKFZp781L10202

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction 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
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pregnancy-specific beta-1-glycoprotein 8
    Names
    C1 alternate
    C2 alternate
    C3 alternate
    PS-beta-G-8
    PSBG-8
    pregnancy-specific beta-1 glycoprotein
    pregnancy-specific glycoprotein 8

    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_001130167.2 → NP_001123639.1  pregnancy-specific beta-1-glycoprotein 8 isoform b precursor

      See identical proteins and their annotated locations for NP_001123639.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC004654, BC137500, BC142628, BX114490
      Consensus CDS
      CCDS46091.1
      UniProtKB/TrEMBL
      Q96QL5
      Related
      ENSP00000385869.3, ENST00000404209.8
      Conserved Domains (4) summary
      cd05774
      Location:36 → 138
      Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
      smart00410
      Location:339 → 411
      IG_like; Immunoglobulin like
      pfam13895
      Location:335 → 413
      Ig_2; Immunoglobulin domain
      cl11960
      Location:148 → 236
      Ig; Immunoglobulin domain

    2. NM_001130168.2 → NP_001123640.1  pregnancy-specific beta-1-glycoprotein 8 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC004654, AL545004, BC137500, BC142628, BX114490
      Consensus CDS
      CCDS46090.1
      UniProtKB/TrEMBL
      B4DTG5
      Related
      ENSP00000385081.3, ENST00000406636.7
      Conserved Domains (3) summary
      smart00410
      Location:217 → 289
      IG_like; Immunoglobulin like
      pfam13895
      Location:213 → 291
      Ig_2; Immunoglobulin domain
      cl11960
      Location:26 → 114
      Ig; Immunoglobulin domain

    3. NM_182707.3 → NP_874366.1  pregnancy-specific beta-1-glycoprotein 8 isoform a precursor

      See identical proteins and their annotated locations for NP_874366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC137500
      Consensus CDS
      CCDS33037.1
      UniProtKB/Swiss-Prot
      A5PKV3, B2RPL4, B4DTI6, O60410, Q68CR6, Q9UQ74
      UniProtKB/TrEMBL
      A0A087WT09
      Related
      ENSP00000305005.4, ENST00000306511.5
      Conserved Domains (3) summary
      pfam13895
      Location:335 → 413
      Ig_2; Immunoglobulin domain
      cd05774
      Location:36 → 138
      Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
      cl11960
      Location:148 → 236
      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
      42752686..42765678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438850.1 → XP_047294806.1  pregnancy-specific beta-1-glycoprotein 8 isoform X4

    2. XM_047438848.1 → XP_047294804.1  pregnancy-specific beta-1-glycoprotein 8 isoform X2

    3. XM_011526986.2 → XP_011525288.1  pregnancy-specific beta-1-glycoprotein 8 isoform X1

      UniProtKB/TrEMBL
      Q9UPK8
      Conserved Domains (4) summary
      cd05774
      Location:36 → 138
      Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
      smart00410
      Location:246 → 318
      IG_like; Immunoglobulin like
      pfam13895
      Location:242 → 320
      Ig_2; Immunoglobulin domain
      cl11960
      Location:148 → 236
      Ig; Immunoglobulin domain

    4. XM_047438849.1 → XP_047294805.1  pregnancy-specific beta-1-glycoprotein 8 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      45571645..45584627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321050.1 → XP_054177025.1  pregnancy-specific beta-1-glycoprotein 8 isoform X2

    2. XM_054321049.1 → XP_054177024.1  pregnancy-specific beta-1-glycoprotein 8 isoform X1

    3. XM_054321051.1 → XP_054177026.1  pregnancy-specific beta-1-glycoprotein 8 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQ74.2 GenPept UniProtKB/Swiss-Prot:Q9UQ74

    Gene LinkOut

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