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PTN pleiotrophin [ Homo sapiens (human) ]

Gene ID: 5764, updated on 4-Jan-2025

Summary

Official Symbol
PTNprovided by HGNC
Official Full Name
pleiotrophinprovided by HGNC
Primary source
HGNC:HGNC:9630
See related
Ensembl:ENSG00000105894 MIM:162095; AllianceGenome:HGNC:9630
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
HARP; HBBM; HBNF; HBGF8; NEGF1; OSF-1; HB-GAM; HBGF-8; HBNF-1
Summary
The protein encoded by this gene is a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression
Broad expression in brain (RPKM 83.5), prostate (RPKM 56.7) and 17 other tissues See more
Orthologs
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Genomic context

See PTN in Genome Data Viewer
Location:
7q33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (137227341..137343733, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (138536475..138652884, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (136912088..137028479, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC349160 Neighboring gene MPRA-validated peak6775 silencer Neighboring gene MPRA-validated peak6776 silencer Neighboring gene uncharacterized LOC105375525 Neighboring gene ribosomal protein L18 pseudogene 5 Neighboring gene NANOG hESC enhancer GRCh37_chr7:136926348-136926849 Neighboring gene small nucleolar RNA SNORD81 Neighboring gene HERV.E-PTN promoter Neighboring gene uncharacterized LOC105375527 Neighboring gene pleiotrophin promoter Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:137124520-137125036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137177340-137177840 Neighboring gene diacylglycerol kinase iota Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137275182-137275682 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:137275817-137277016 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:137327058-137327746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26725 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:137431381-137432117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137438995-137439495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137467087-137467587 Neighboring gene ribosomal protein L6 pseudogene 19 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:137504722-137505502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26726 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:137524999-137525581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137530559-137531060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18684 Neighboring gene Sharpr-MPRA regulatory region 15617 Neighboring gene Sharpr-MPRA regulatory region 13047 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:137558107-137559306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:137563379-137564110 and GRCh37_chr7:137564111-137564844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137568315-137568816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137569503-137570060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26728 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:137584118-137584834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137588782-137589282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26730 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:137616267-137616482 Neighboring gene Sharpr-MPRA regulatory region 2088 Neighboring gene cAMP responsive element binding protein 3 like 2 Neighboring gene CREB3L2 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding PubMed 
enables chondroitin sulfate binding PubMed 
enables growth factor activity  
enables growth factor activity PubMed 
enables heparin binding PubMed 
enables integrin binding PubMed 
enables molecular function activator activity PubMed 
enables protein binding PubMed 
enables protein kinase binding PubMed 
enables protein phosphatase inhibitor activity PubMed 
Items 1 - 25 of 35
Process Evidence Code Pubs
involved_in bone mineralization  
involved_in cell surface receptor protein tyrosine phosphatase signaling pathway PubMed 
involved_in decidualization  
involved_in dendrite arborization  
involved_in dendrite regeneration  
involved_in estrous cycle  
involved_in integrin-mediated signaling pathway PubMed 
involved_in learning  
involved_in leukocyte chemotaxis involved in inflammatory response  
involved_in memory  
involved_in negative regulation of long-term synaptic potentiation  
involved_in negative regulation of neuroblast proliferation  
involved_in nervous system development PubMed 
involved_in oogenesis  
involved_in ossification involved in bone remodeling PubMed 
involved_in positive regulation of axon regeneration  
involved_in positive regulation of bone mineralization  
involved_in positive regulation of cell division  
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of dendrite development  
involved_in positive regulation of hepatocyte proliferation  
involved_in positive regulation of leukocyte chemotaxis  
involved_in positive regulation of neuron projection development  
involved_in positive regulation of oligodendrocyte differentiation PubMed 
involved_in positive regulation of oligodendrocyte differentiation PubMed 
involved_in positive regulation of ossification  
involved_in positive regulation of stem cell differentiation  
involved_in receptor clustering PubMed 
involved_in regulation of endothelial cell migration  
involved_in regulation of hemopoiesis  
involved_in regulation of myelination  
involved_in regulation of stem cell population maintenance  
involved_in regulation of synaptic plasticity  
involved_in response to auditory stimulus  
involved_in tissue regeneration  
Items 1 - 25 of 35
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse  
located_in endoplasmic reticulum  
is_active_in extracellular region  
located_in extracellular region  
located_in extracellular space PubMed 
located_in plasma membrane  
part_of protein-containing complex PubMed 

General protein information

Preferred Names
pleiotrophin
Names
heparin affin regulatory protein
heparin-binding brain mitogen
heparin-binding growth factor 8
heparin-binding growth-associated molecule
heparin-binding neurite outgrowth promoting factor
heparin-binding neurite outgrowth-promoting factor 1
osteoblast-specific factor 1
pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1)

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_001321386.2NP_001308315.1  pleiotrophin isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Both variants 1 and 2 encode the same protein. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in placenta-specific expression. (PMID: 8962128)
    Source sequence(s)
    AC018728, AU138017, AW020400, BC005916
    Consensus CDS
    CCDS5844.1
    UniProtKB/Swiss-Prot
    P21246, Q5U0B0, Q6ICQ5, Q9UCC6
    UniProtKB/TrEMBL
    C9JR52
    Conserved Domains (1) summary
    cl02505
    Location:47131
    PTN_MK_N; PTN/MK heparin-binding protein family, N-terminal domain
  2. NM_001321387.3NP_001308316.1  pleiotrophin isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AW020400, BC005916, BX420480
    Consensus CDS
    CCDS94211.1
    UniProtKB/TrEMBL
    A0A8V8TNI1, C9JR52
    Related
    ENSP00000514273.1, ENST00000699293.1
    Conserved Domains (1) summary
    cl02505
    Location:47131
    PTN_MK_N; PTN/MK heparin-binding protein family, N-terminal domain
  3. NM_002825.7NP_002816.1  pleiotrophin isoform 1 precursor

    See identical proteins and their annotated locations for NP_002816.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AW020400, BC005916, M57399
    Consensus CDS
    CCDS5844.1
    UniProtKB/Swiss-Prot
    P21246, Q5U0B0, Q6ICQ5, Q9UCC6
    UniProtKB/TrEMBL
    C9JR52
    Related
    ENSP00000341170.2, ENST00000348225.7
    Conserved Domains (1) summary
    cl02505
    Location:47131
    PTN_MK_N; PTN/MK heparin-binding protein family, N-terminal 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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    137227341..137343733 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    138536475..138652884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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