GP2 glycoprotein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GP2provided by HGNC
Official Full Name: glycoprotein 2provided by HGNC
Primary source: HGNC:HGNC:4441
See related: Ensembl:ENSG00000169347 MIM:602977; AllianceGenome:HGNC:4441
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: ZAP75
Summary: This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression: Restricted expression toward pancreas (RPKM 2558.6) See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (20309574..20327513, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (20240526..20258466, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (20320896..20338835, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Structure of the decoy module of human glycoprotein 2 and uromodulin and its interaction with bacterial adhesin FimH.
Title: Structure of the decoy module of human glycoprotein 2 and uromodulin and its interaction with bacterial adhesin FimH.
Common Variants in NUS1 and GP2 Genes Contributed to the Risk of Gestational Diabetes Mellitus.
Title: Common Variants in NUS1 and GP2 Genes Contributed to the Risk of Gestational Diabetes Mellitus.
Antibodies Against Glycoprotein 2 Are Specific Biomarkers for Pediatric Crohn's Disease.
Title: Antibodies Against Glycoprotein 2 Are Specific Biomarkers for Pediatric Crohn's Disease.
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer.
Title: Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer.
Novel anti-GP2 (isoforms 1 and 4) antibodies are associated with Crohn's disease of the pouch in ulcerative colitis patients after ileal pouch-anal anastomosis.
Title: Loss of tolerance to glycoprotein 2 isoforms 1 and 4 is associated with Crohn's disease of the pouch.
Mucosal Autoimmunity to Cell-Bound GP2 Isoforms Is a Sensitive Marker in PSC and Associated With the Clinical Phenotype.
Title: Mucosal Autoimmunity to Cell-Bound GP2 Isoforms Is a Sensitive Marker in PSC and Associated With the Clinical Phenotype.
Data indicate the secretory granule membrane glycoprotein 2 as a marker for PDX1+/NKX6-1+ pancreatic progenitors (PPs).
Title: Glycoprotein 2 is a specific cell surface marker of human pancreatic progenitors.
Totals of 12.4% and 20.8% of Crohn's disease patients were positive for IgA/IgG type of anti-GP2 and anti-CUZD1, respectively. Positivity for anti-pancreatic autoantibodies predicted a faster progression towards complicated disease course.
Title: Rediscovery of the Anti-Pancreatic Antibodies and Evaluation of their Prognostic Value in a Prospective Clinical Cohort of Crohn's Patients: The Importance of Specific Target Antigens [GP2 and CUZD1].
Anti-GP2 antibody positive CD patients had higher ASCA titres compared to seronegative cases.
Title: Ileal inflammation may trigger the development of GP2-specific pancreatic autoantibodies in patients with Crohn's disease.
A novel role for GP2 in immune regulation could provide a platform for new therapeutic interventions in the treatment of Crohn disease.
Title: Identification of pancreatic glycoprotein 2 as an endogenous immunomodulator of innate and adaptive immune responses.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

EBI GWAS Catalog

Description
Meta-analysis identifies common variants associated with body mass index in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH70614 (e-PCR)
- UniSTS:13856

GP2__7529 (e-PCR)
- UniSTS:471449

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within antigen transcytosis by M cells in mucosal-associated lymphoid tissue	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in neutrophil migration	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in zymogen granule membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: pancreatic secretory granule membrane major glycoprotein GP2

Names: glycoprotein 2 (zymogen granule membrane); pancreatic zymogen granule membrane associated protein GP2

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_001007240.3 → NP_001007241.2 pancreatic secretory granule membrane major glycoprotein GP2 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001007241.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AC106796

Consensus CDS

CCDS42128.1

UniProtKB/Swiss-Prot

A6NFM9, A6NJA8, P55259, Q13338, Q9UIF1

UniProtKB/TrEMBL

B2R5R0

Related

ENSP00000370767.4, ENST00000381362.8

Conserved Domains (2) summary

smart00241
Location:229 → 480

ZP; Zona pellucida (ZP) domain

pfam00100
Location:358 → 478

Zona_pellucida; Zona pellucida-like domain
NM_001007241.3 → NP_001007242.2 pancreatic secretory granule membrane major glycoprotein GP2 isoform 3 precursor

See identical proteins and their annotated locations for NP_001007242.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.

Source sequence(s)

AC106796

Consensus CDS

CCDS45433.1

UniProtKB/TrEMBL

Q8N1A3

Related

ENSP00000370765.5, ENST00000381360.9

Conserved Domains (2) summary

smart00241
Location:82 → 333

ZP; Zona pellucida (ZP) domain

pfam00100
Location:211 → 331

Zona_pellucida; Zona pellucida-like domain
NM_001007242.3 → NP_001007243.2 pancreatic secretory granule membrane major glycoprotein GP2 isoform 4 precursor

See identical proteins and their annotated locations for NP_001007243.2

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 5' coding region compared to variant 1. The resulting protein (isoform 4, also known as beta) is shorter than isoform 1.

Source sequence(s)

AC106796

Consensus CDS

CCDS45432.1

UniProtKB/TrEMBL

Q8N1A3

Related

ENSP00000343861.5, ENST00000341642.9

Conserved Domains (2) summary

smart00241
Location:79 → 330

ZP; Zona pellucida (ZP) domain

pfam00100
Location:208 → 328

Zona_pellucida; Zona pellucida-like domain
NM_001502.4 → NP_001493.2 pancreatic secretory granule membrane major glycoprotein GP2 isoform 2 precursor

See identical proteins and their annotated locations for NP_001493.2

Status: REVIEWED

Description

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

Source sequence(s)

AC106796

Consensus CDS

CCDS10582.2

UniProtKB/TrEMBL

B2R5R0

Related

ENSP00000304044.6, ENST00000302555.10

Conserved Domains (2) summary

smart00241
Location:226 → 477

ZP; Zona pellucida (ZP) domain

pfam00100
Location:355 → 475

Zona_pellucida; Zona pellucida-like domain