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

    Gene ID: 79056, updated on 28-Oct-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, Oct 2024]
    Expression
    Broad expression in esophagus (RPKM 11.6), skin (RPKM 9.5) and 18 other tissues See more
    Orthologs
    mouse all
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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.

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