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PTX4 pentraxin 4 [ Homo sapiens (human) ]

Gene ID: 390667, updated on 11-Jun-2021

Summary

Official Symbol
PTX4provided by HGNC
Official Full Name
pentraxin 4provided by HGNC
Primary source
HGNC:HGNC:14171
See related
Ensembl:ENSG00000251692 MIM:613442
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
C16orf38
Summary
This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See PTX4 in Genome Data Viewer
Location:
16p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1485886..1488944, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1535887..1538945, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chloride voltage-gated channel 7 Neighboring gene RPS3A pseudogene 2 Neighboring gene telomere maintenance 2 Neighboring gene intraflagellar transport 140 Neighboring gene transmembrane protein 204

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pentraxin-4
Names
long pentraxin 4
neuronal pentraxin-like protein C16orf38
pentraxin 4, long

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_001013658.1NP_001013680.1  pentraxin-4 isoform 2

    See identical proteins and their annotated locations for NP_001013680.1

    Status: VALIDATED

    Description
    Transcript Variant: This transcript (2) uses an alternate 5' terminal exon and an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AE006467
    Consensus CDS
    CCDS32362.1
    UniProtKB/Swiss-Prot
    Q96A99
    Related
    ENSP00000293922.1, ENST00000293922.1
    Conserved Domains (1) summary
    cd00152
    Location:265462
    PTX; Pentraxins are plasma proteins characterized by their pentameric discoid assembly and their Ca2+ dependent ligand binding, such as Serum amyloid P component (SAP) and C-reactive Protein (CRP), which are cytokine-inducible acute-phase proteins implicated ...
  2. NM_001328608.2NP_001315537.1  pentraxin-4 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). This transcript is based on data in PMID:20357257.
    Source sequence(s)
    AL031705
    Consensus CDS
    CCDS86492.1
    UniProtKB/Swiss-Prot
    Q96A99
    Related
    ENSP00000445277.2, ENST00000447419.7
    Conserved Domains (1) summary
    cd00152
    Location:270467
    PTX; Pentraxins are plasma proteins characterized by their pentameric discoid assembly and their Ca2+ dependent ligand binding, such as Serum amyloid P component (SAP) and C-reactive Protein (CRP), which are cytokine-inducible acute-phase proteins implicated ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    1485886..1488944 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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