PFN2 profilin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PFN2provided by HGNC
Official Full Name: profilin 2provided by HGNC
Primary source: HGNC:HGNC:8882
See related: Ensembl:ENSG00000070087 MIM:176590; AllianceGenome:HGNC:8882
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: PFL; D3S1319E
Summary: The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 148.4), thyroid (RPKM 50.8) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q25.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (149964904..149970895, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (152716278..152722269, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (149682691..149688682, complement)

Chromosome 3 - NC_000003.12 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 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?

Oncogenic circ-SLC16A1 promotes progression of non-small cell lung cancer via regulation of the miR-1287-5p/profilin 2 axis.
Title: Oncogenic circ-SLC16A1 promotes progression of non-small cell lung cancer via regulation of the miR-1287-5p/profilin 2 axis.
ELAVL4 promotes the tumorigenesis of small cell lung cancer by stabilizing LncRNA LYPLAL1-DT and enhancing profilin 2 activation.
Title: ELAVL4 promotes the tumorigenesis of small cell lung cancer by stabilizing LncRNA LYPLAL1-DT and enhancing profilin 2 activation.
MiR-200b-3p is upregulated in the placental tissues from patients with preeclampsia and promotes the development of preeclampsia via targeting profilin 2.
Title: MiR-200b-3p is upregulated in the placental tissues from patients with preeclampsia and promotes the development of preeclampsia via targeting profilin 2.
OCT1-target neural gene PFN2 promotes tumor growth in androgen receptor-negative prostate cancer.
Title: OCT1-target neural gene PFN2 promotes tumor growth in androgen receptor-negative prostate cancer.
[Profilin 2 is highly expressed in gastric cancer and promotes tumor cell proliferation and migration].
Title: [Profilin 2 is highly expressed in gastric cancer and promotes tumor cell proliferation and migration].
ets1 associates with KMT5A to participate in high glucose-mediated EndMT via upregulation of PFN2 expression in diabetic nephropathy.
Title: ets1 associates with KMT5A to participate in high glucose-mediated EndMT via upregulation of PFN2 expression in diabetic nephropathy.
Profilin 2 (PFN2) promotes the proliferation, migration, invasion and epithelial-to-mesenchymal transition of triple negative breast cancer cells.
Title: Profilin 2 (PFN2) promotes the proliferation, migration, invasion and epithelial-to-mesenchymal transition of triple negative breast cancer cells.
Profilin 2 promotes growth, metastasis, and angiogenesis of small cell lung cancer through cancer-derived exosomes.
Title: Profilin 2 promotes growth, metastasis, and angiogenesis of small cell lung cancer through cancer-derived exosomes.
PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin.
Title: PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin.
Long non-coding RNA TUG1 regulates the progression and metastasis of osteosarcoma cells via miR-140-5p/PFN2 axis.
Title: Long non-coding RNA TUG1 regulates the progression and metastasis of osteosarcoma cells via miR-140-5p/PFN2 axis.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of profilin 2 (PFN2) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-L10678 (e-PCR)
- UniSTS:55065

D17S1275 (e-PCR)
- UniSTS:149820

RH27938 (e-PCR)
- UniSTS:89950

WI-15778 (e-PCR)
- UniSTS:3573

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin monomer binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in modification of postsynaptic actin cytoskeleton	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ruffle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of actin filament polymerization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in presynaptic actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: profilin-2

Names: profilin II

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.

Genomic

NG_029114.1 RefSeqGene

Range

5060..11051

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002628.5 → NP_002619.1 profilin-2 isoform b

See identical proteins and their annotated locations for NP_002619.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal segment in the 3' region including 3' coding region and 3' UTR, resulting in a downstream stop codon and a shorter 3' UTR, as compared to variant 1. The encoded isoform (b) is the same length but has a different C-terminus compared to isoform a.

Source sequence(s)

BC043646, L10678

Consensus CDS

CCDS46934.1

UniProtKB/Swiss-Prot

P35080

Related

ENSP00000410464.2, ENST00000452853.6

Conserved Domains (1) summary

smart00392
Location:2 → 139

PROF; Profilin
NM_053024.4 → NP_444252.1 profilin-2 isoform a

See identical proteins and their annotated locations for NP_444252.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform a.

Source sequence(s)

BC043646

Consensus CDS

CCDS3148.1

UniProtKB/Swiss-Prot

B2R4C8, D3DNI4, P35080, Q4VBQ4, Q8WVF9, Q9HBK2

Related

ENSP00000239940.7, ENST00000239940.12

Conserved Domains (1) summary

smart00392
Location:2 → 140

PROF; Profilin