PTN pleiotrophin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000007.14 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
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?

Single-cell RNA-sequencing analysis reveals enhanced non-canonical neurotrophic factor signaling in the subacute phase of traumatic brain injury.
Title: Single-cell RNA-sequencing analysis reveals enhanced non-canonical neurotrophic factor signaling in the subacute phase of traumatic brain injury.
Prognostic evaluation of oral squamous cell carcinoma based on pleiotrophin, urokinase plasminogen activator, and glycoprotein nonmetastatic melanoma protein B expression.
Title: Prognostic evaluation of oral squamous cell carcinoma based on pleiotrophin, urokinase plasminogen activator, and glycoprotein nonmetastatic melanoma protein B expression.
Differential Production of Midkine and Pleiotrophin by Innate APCs upon Stimulation through Nucleic Acid-Sensing TLRs.
Title: Differential Production of Midkine and Pleiotrophin by Innate APCs upon Stimulation through Nucleic Acid-Sensing TLRs.
Pleiotrophin drives a prometastatic immune niche in breast cancer.
Title: Pleiotrophin drives a prometastatic immune niche in breast cancer.
Pleiotrophin attenuates the senescence of dental pulp stem cells.
Title: Pleiotrophin attenuates the senescence of dental pulp stem cells.
LncRNA PITPNA-AS1/miR-223-3p/PTN axis regulates malignant progression and stemness in lung squamous cell carcinoma.
Title: LncRNA PITPNA-AS1/miR-223-3p/PTN axis regulates malignant progression and stemness in lung squamous cell carcinoma.
Pleiotrophin Serum Level is Increased in Relapsing-Remitting Multiple Sclerosis and Correlates With Sex, BMI and Treatment.
Title: Pleiotrophin Serum Level is Increased in Relapsing-Remitting Multiple Sclerosis and Correlates With Sex, BMI and Treatment.
Pleiotrophin selectively binds to vascular endothelial growth factor receptor 2 and inhibits or stimulates cell migration depending on alphanubeta3 integrin expression.
Title: Pleiotrophin selectively binds to vascular endothelial growth factor receptor 2 and inhibits or stimulates cell migration depending on α(ν)β(3) integrin expression.
Discovery of PTN as a serum-based biomarker of pro-metastatic prostate cancer.
Title: Discovery of PTN as a serum-based biomarker of pro-metastatic prostate cancer.
Pleiotrophin interacts with glycosaminoglycans in a highly flexible and adaptable manner.
Title: Pleiotrophin interacts with glycosaminoglycans in a highly flexible and adaptable manner.

Submit: New GeneRIF Correction See all GeneRIFs (122)

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
Biological insights from 108 schizophrenia-associated genetic loci. 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

PTN (e-PCR), detects polymorphism
- UniSTS:10504

A005E25 (e-PCR)
- UniSTS:66842

GDB:1318726 (e-PCR)
- UniSTS:65319

D7S2735 (e-PCR)
- UniSTS:56879

SHGC-56501 (e-PCR)
- UniSTS:80710

SHGC-141851 (e-PCR)
- UniSTS:171114

STS-AA001449 (e-PCR)
- UniSTS:7028

RH103585 (e-PCR)
- UniSTS:97910

GDB:1317188 (e-PCR)
- UniSTS:80773

RH103861 (e-PCR)
- UniSTS:98186

Ptn (e-PCR), detects polymorphism
- UniSTS:144298

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	EXP Inferred from Experiment more info	PubMed
enables chondroitin sulfate binding	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular function activator activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine phosphatase signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in decidualization	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite arborization	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in estrous cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in leukocyte chemotaxis involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in oogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ossification involved in bone remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of axon regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of hepatocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of leukocyte chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of oligodendrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of oligodendrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in receptor clustering	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of endothelial cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to auditory stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in tissue regeneration	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

NM_001321386.2 → NP_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:47 → 131

PTN_MK_N; PTN/MK heparin-binding protein family, N-terminal domain
NM_001321387.3 → NP_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:47 → 131

PTN_MK_N; PTN/MK heparin-binding protein family, N-terminal domain
NM_002825.7 → NP_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:47 → 131

PTN_MK_N; PTN/MK heparin-binding protein family, N-terminal domain