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PRRG4 proline rich and Gla domain 4 [ Homo sapiens (human) ]

Gene ID: 79056, updated on 2-Nov-2024

Summary

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Official Symbol
PRRG4provided by HGNC
Official Full Name
proline rich and Gla domain 4provided by HGNC
Primary source
HGNC:HGNC:30799
See related
Ensembl:ENSG00000135378 MIM:611690; AllianceGenome:HGNC:30799
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
TMG4; PRGP4
Summary
Enables WW domain binding activity. Located in plasma membrane. Biomarker of cholangiocarcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in esophagus (RPKM 11.6), skin (RPKM 9.5) and 18 other tissues See more
Orthologs
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Genomic context

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See PRRG4 in Genome Data Viewer
Location:
11p13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (32829789..32858120)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (32965209..32993360)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (32851473..32879666)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 Neighboring gene eukaryotic translation initiation factor 3 subunit M Neighboring gene coiled-coil domain containing 73 Neighboring gene 60S ribosomal protein L34-like Neighboring gene ribosomal protein L34 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4567 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:32912708-32913282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4568 Neighboring gene glutamine and serine rich 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:32968504-32968654 Neighboring gene uncharacterized LOC105376615 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:33022947-33023448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3230 Neighboring gene DEP domain containing 7

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. Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4. Yamamoto T, et al. Am J Med Genet A, 2014 Mar. PMID 24357251
  2. Identification of two novel transmembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissues. Kulman JD, et al. Proc Natl Acad Sci U S A, 2001 Feb 13. PMID 11171957, Free PMC Article
  3. PRRG4 promotes breast cancer metastasis through the recruitment of NEDD4 and downregulation of Robo1. Zhang L, et al. Oncogene, 2020 Dec. PMID 33037408
  4. Genomewide association study for onset age in Parkinson disease. Latourelle JC, et al. BMC Med Genet, 2009 Sep 22. PMID 19772629, Free PMC Article
  5. The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. Justice ED, et al. PLoS Genet, 2017 Aug. PMID 28859078, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PRRG4 promotes breast cancer metastasis through the recruitment of NEDD4 and downregulation of Robo1.
    Title: PRRG4 promotes breast cancer metastasis through the recruitment of NEDD4 and downregulation of Robo1.
  2. PRRG4 could re-localize hRobo1 from the cell surface, suggesting that PRRG4 is a functional homologue of Comm. Comm is required for axon guidance and synapse formation in the fly, so PRRG4 could contribute to the autistic symptoms of WAGR by disturbing either of these processes in the developing human brain.
    Title: The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.
  3. the unique genotype identified in this study suggested that haploinsufficiencies of PAX6 or PRRG4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome.
    Title: Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.
  4. Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2.
    Title: Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2.
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

EBI GWAS Catalog

Description
Genomewide association study for onset age in Parkinson disease.
EBI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables WW domain binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transmembrane gamma-carboxyglutamic acid protein 4
Names
proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)
proline-rich Gla protein 4
proline-rich gamma-carboxyglutamic acid protein 4

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_024081.6 → NP_076986.1  transmembrane gamma-carboxyglutamic acid protein 4 precursor

    See identical proteins and their annotated locations for NP_076986.1

    Status: VALIDATED

    Source sequence(s)
    AL035400, BC010052, BC063393
    Consensus CDS
    CCDS7881.1
    UniProtKB/Swiss-Prot
    Q9BZD6
    UniProtKB/TrEMBL
    A0A0S2Z5N9
    Related
    ENSP00000257836.3, ENST00000257836.4
    Conserved Domains (1) summary
    pfam00594
    Location:57 → 97
    Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) 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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    32829789..32858120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718314.4 → XP_006718377.1  transmembrane gamma-carboxyglutamic acid protein 4 isoform X2

    See identical proteins and their annotated locations for XP_006718377.1

    UniProtKB/Swiss-Prot
    Q9BZD6
    UniProtKB/TrEMBL
    A0A0S2Z5N9
    Conserved Domains (1) summary
    pfam00594
    Location:57 → 97
    Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

  2. XM_006718313.4 → XP_006718376.4  transmembrane gamma-carboxyglutamic acid protein 4 isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z5M6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    32965209..32993360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369923.1 → XP_054225898.1  transmembrane gamma-carboxyglutamic acid protein 4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZD6.1 GenPept UniProtKB/Swiss-Prot:Q9BZD6

Gene LinkOut

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

Chemical Information
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