PSG7 pregnancy specific beta-1-glycoprotein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSG7provided by HGNC
Official Full Name: pregnancy specific beta-1-glycoprotein 7provided by HGNC
Primary source: HGNC:HGNC:9524
See related: Ensembl:ENSG00000221878 MIM:176396; AllianceGenome:HGNC:9524
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: PSG1; PSGGA; PSBG-7; PS-beta-G-7
Summary: This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression: Restricted expression toward placenta (RPKM 24.2) See more
Orthologs: all
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Genomic context

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 (42924132..42937207, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (45743086..45756176, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (43428284..43441359, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

PSG7 and 9 (Pregnancy-Specific beta-1 Glycoproteins 7 and 9): Novel Biomarkers for Preeclampsia.
Title: PSG7 and 9 (Pregnancy-Specific β-1 Glycoproteins 7 and 9): Novel Biomarkers for Preeclampsia.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009J14 (e-PCR)
- UniSTS:26922

RH46954 (e-PCR)
- UniSTS:67887

D19S1094 (e-PCR)
- UniSTS:4169

NoName (e-PCR)
- UniSTS:490450

SHGC-35289 (e-PCR)
- UniSTS:40188

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 female pregnancy	TAS Traceable Author Statement more info	PubMed
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 7

Names: pregnancy-specific glycoprotein 7; putative pregnancy-specific beta-1-glycoprotein 7

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)

NM_001206650.2 → NP_001193579.1 pregnancy-specific beta-1-glycoprotein 7 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AC093055, BC136401, BP321474, BX952498, DB381347, T29414

Consensus CDS

CCDS77310.1

UniProtKB/TrEMBL

A0A096LNM5, M0R0B3

Related

ENSP00000485117.1, ENST00000623675.3

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
NM_002783.3 → NP_002774.2 pregnancy-specific beta-1-glycoprotein 7 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longest isoform (1). This version of transcript variant 1 represents the protein-coding minor allele. A second version of transcript variant 1 represents the major allele of this polymorphic locus with a mismatch compared to the reference genome sequence.

Source sequence(s)

AC093055, AL546656, BC030979, BG434892, BX952498, DC380850, T29414, U18467

UniProtKB/Swiss-Prot

A0A087WSZ1, Q13046, Q15232

UniProtKB/TrEMBL

A0A087WT09

Related

ENSP00000421986.1, ENST00000406070.7

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

RNA

NR_172123.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (1, non-coding) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This version of transcript variant 1 represents the non protein-coding major allele of this polymorphic locus with a mismatch compared to the reference genome sequence. A second version of transcript variant 1 represents the protein-coding minor allele.

Source sequence(s)

AC005260, AC093055, BC030979

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

42924132..42937207 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

45743086..45756176 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001290042.1: Suppressed sequence

Description

NM_001290042.1: This RefSeq was removed because it is redundant with another RefSeq (NM_002783.3), when matched to the current reference genome assembly sequence.