PDLIM5 - PDZ and LIM domain 5 Gene

Homo sapiens

Also known as L9; ENH; LIM; ENH1

Gene ID: 10611 | Gene type: protein coding

About PDLIM5

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:94,451,942-94,668,223 (from NCBI)

This gene has 23 transcripts (splice variants), 281 orthologues and 7 paralogues. Broad expression in heart (RPKM 70.2), prostate (RPKM 31.5) and 23 other tissues.

Summary

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PDLIM5 Products(9)

mRNA	Protein	Name
NM_001011513.4	NP_001011513.4	PDZ and LIM domain protein 5 isoform b
NM_001011515.3	NP_001011515.1	PDZ and LIM domain protein 5 isoform d
NM_001011516.3	NP_001011516.1	PDZ and LIM domain protein 5 isoform e
NM_001256425.2	NP_001243354.2	PDZ and LIM domain protein 5 isoform c
NM_001256426.2	NP_001243355.2	PDZ and LIM domain protein 5 isoform f
NM_001256427.2	NP_001243356.2	PDZ and LIM domain protein 5 isoform g
NM_001256428.2	NP_001243357.2	PDZ and LIM domain protein 5 isoform h
NM_001256429.2	NP_001243358.1	PDZ and LIM domain protein 5 isoform i
NM_006457.5	NP_006448.5	PDZ and LIM domain protein 5 isoform a

PDLIM5 Protein Structure

PDZ

LIM

0
100
200
300
400
500
596 a.a.

Protein Preferred Names

Protein Names

PDZ and LIM domain protein 5

enigma homolog

Related Diseases

Diseases

Alias

Nail-Patella Syndrome

Turner-Kieser Syndrome	Onychoosteodysplasia
Fong Disease	NPS
Hereditary Onycho-Osteodysplasia	Nps1
Hereditary Onychoostedysplasia	Iliac Horn Syndrome
Nail Patella Syndrome	Turner-Kiser Syndrome
Arthro-Onychodysplasia	Nps 1
Osteo-Onychodysplasia	Hereditary Osteo-Onychodysplasia
Osterreicher Syndrome	Pelvic Horn Syndrome
Österreicher-Turner Syndrome	Nps - [Nail-Patella Syndrome]
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Lissencephaly 3

LIS3	Lissencephaly Due To Tuba1a Mutation
Lissencephaly Type 3	Lissencephaly, Type 3

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Major Depressive Disorder

Seasonal Affective Disorder	Unipolar Depression
Depression	MDD
Depressive Disorder	Unipolar Depression, Susceptibility To
Major Depressive Disorder 1	Major Depressive Disorder, Response To Citalopram Therapy In
Major Depressive Disorder 2	Winter Depression
Single Major Depressive Episode	Sad
Clinical Depression	Major Depression
Depressive Syndrome	Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment
Seasonal Affective Disorder, Susceptibility To	Recurrent Major Depression
Affective Disorder, Seasonal	Depression In A Seasonal Pattern
Depression	Seasonal
Major Depressive Disorder With A Seasonal Pattern	Seasonal Depression
Seasonal Mood Disorder	Mental Depression
Recurrent Major Depressive Episodes

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All	Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma
Precursor T-Cell Acute Lymphocytic Leukemia	Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Adult T-Cell Lymphoma/Leukemia

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10283	PDLIM5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PDLIM5	VGNC	VGNC:32711
Felis catus	PDLIM5	VGNC	VGNC:64092
Macaca mulatta	PDLIM5	VGNC	VGNC:75816
Canis familiaris	PDLIM5	VGNC	VGNC:44387
Rattus norvegicus	PDLIM5	RGD	RGD:621076
Mus musculus	PDLIM5	MGD	MGI:1927489

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