PDLIM2 PDZ and LIM domain 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDLIM2provided by HGNC
Official Full Name: PDZ and LIM domain 2provided by HGNC
Primary source: HGNC:HGNC:13992
See related: Ensembl:ENSG00000120913 MIM:609722; AllianceGenome:HGNC:13992
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: SLIM; MYSTIQUE
Summary: This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
Expression: Broad expression in spleen (RPKM 22.4), lung (RPKM 9.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22578741..22598026)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22852592..22871886)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (22436254..22455539)

Chromosome 8 - NC_000008.11 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?

Tumor promoting effect of PDLIM2 downregulation involves mitochondrial ROS, oncometabolite accumulations and HIF-1alpha activation.
Title: Tumor promoting effect of PDLIM2 downregulation involves mitochondrial ROS, oncometabolite accumulations and HIF-1α activation.
PDLIM2 can inactivate the TGF-beta/Smad pathway to inhibit the malignant behavior of ovarian cancer cells.
Title: PDLIM2 can inactivate the TGF-β/Smad pathway to inhibit the malignant behavior of ovarian cancer cells.
High Expression of PDLIM2 Predicts a Poor Prognosis in Prostate Cancer and Is Correlated with Epithelial-Mesenchymal Transition and Immune Cell Infiltration.
Title: High Expression of PDLIM2 Predicts a Poor Prognosis in Prostate Cancer and Is Correlated with Epithelial-Mesenchymal Transition and Immune Cell Infiltration.
Kruppel like factor 10 up-regulates PDZ and LIM domain containing protein 2 via nuclear factor kappa-B pathway to inhibit proliferation and inflammatory of fibroblastoid synovial cell in rheumatoid arthritis.
Title: Kruppel like factor 10 up-regulates PDZ and LIM domain containing protein 2 via nuclear factor kappa-B pathway to inhibit proliferation and inflammatory of fibroblastoid synovial cell in rheumatoid arthritis.
Systematic evaluation of the prognostic and immunological role of PDLIM2 across 33 cancer types.
Title: Systematic evaluation of the prognostic and immunological role of PDLIM2 across 33 cancer types.
Central Nervous System-Infecting Pathogens Escherichia coli and Cryptococcus neoformans Exploit the Host Pdlim2 for Intracellular Traversal and Exocytosis in the Blood-Brain Barrier.
Title: Central Nervous System-Infecting Pathogens Escherichia coli and Cryptococcus neoformans Exploit the Host Pdlim2 for Intracellular Traversal and Exocytosis in the Blood-Brain Barrier.
PDLIM2 acts as a cancer suppressor gene in non-small cell lung cancer via the down regulation of NF-kappaB signaling.
Title: PDLIM2 acts as a cancer suppressor gene in non-small cell lung cancer via the down regulation of NF-κB signaling.
Systematic profiling identifies PDLIM2 as a novel prognostic predictor for oesophageal squamous cell carcinoma (ESCC).
Title: Systematic profiling identifies PDLIM2 as a novel prognostic predictor for oesophageal squamous cell carcinoma (ESCC).
Compared to normal lung tissues, the expression of PDLIM2 was significantly decreased in human lung cancers.
Title: Causative role of PDLIM2 epigenetic repression in lung cancer and therapeutic resistance.
study shows that PDLIM2 expression defines a subset of triple-negative breast cancer that may benefit from targeting the beta-catenin and adhesion signaling pathways
Title: PDLIM2 Is a Marker of Adhesion and β-Catenin Activity in Triple-Negative Breast Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D1S1423 (e-PCR)
- UniSTS:149619

RH16479 (e-PCR)
- UniSTS:15776

SHGC-33970 (e-PCR)
- UniSTS:40656

D20S691 (e-PCR)
- UniSTS:153553

D3S1674 (e-PCR)
- UniSTS:148451

AB052137 (e-PCR)
- UniSTS:479989

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables filamin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables muscle alpha-actinin binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin heavy chain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cortical actin cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of filamentous actin	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: PDZ and LIM domain protein 2

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_030435.2 RefSeqGene

Range

6735..20558

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001368120.1 → NP_001355049.1 PDZ and LIM domain protein 2 isoform 4

Status: REVIEWED

Source sequence(s)

AC037459

Consensus CDS

CCDS94264.1

UniProtKB/Swiss-Prot

D3DSR5, J3KNH4, Q7Z584, Q86WM8, Q8WZ29, Q96JY6, Q9H4L9, Q9H7I2

Related

ENSP00000387084.1, ENST00000409417.6
NM_021630.6 → NP_067643.3 PDZ and LIM domain protein 2 isoform 2

Status: REVIEWED

Source sequence(s)

AC037459

Consensus CDS

CCDS6032.2

UniProtKB/Swiss-Prot

Q96JY6

Related

ENSP00000312634.7, ENST00000308354.11

Conserved Domains (3) summary

cd09449
Location:536 → 588

LIM_Mystique; The LIM domain of Mystique, a subfamily of ALP LIM domain proteins

cd00992
Location:259 → 330

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam15936
Location:462 → 505

DUF4749; Domain of unknown function (DUF4749)
NM_176871.5 → NP_789847.1 PDZ and LIM domain protein 2 isoform 1

See identical proteins and their annotated locations for NP_789847.1

Status: REVIEWED

Source sequence(s)

AC037459

Consensus CDS

CCDS34860.1

UniProtKB/Swiss-Prot

Q96JY6

Related

ENSP00000265810.4, ENST00000265810.8

Conserved Domains (3) summary

cd09449
Location:286 → 342

LIM_Mystique; The LIM domain of Mystique, a subfamily of ALP LIM domain proteins

cd00992
Location:9 → 80

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam15936
Location:212 → 255

DUF4749; Domain of unknown function (DUF4749)
NM_198042.4 → NP_932159.1 PDZ and LIM domain protein 2 isoform 3

Status: REVIEWED

Source sequence(s)

AC037459

Consensus CDS

CCDS34861.1

UniProtKB/TrEMBL

C9JS55

Related

ENSP00000386868.1, ENST00000409141.5

Conserved Domains (2) summary

cd00992
Location:9 → 80

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam15936
Location:212 → 257

DUF4749; Domain of unknown function (DUF4749)