PDLIM3 (PDZ and LIM domain 3)

2009-06-01  

Identity

HGNC
LOCATION
4q35.1
LOCUSID
ALIAS
ALP
FUSION GENES

Other Information

Locus ID:

NCBI: 27295
MIM: 605889
HGNC: 20767
Ensembl: ENSG00000154553

Variants:

dbSNP: 27295
ClinVar: 27295
TCGA: ENSG00000154553
COSMIC: PDLIM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154553ENST00000284767Q53GG5
ENSG00000154553ENST00000284770A0A2U3TZH4
ENSG00000154553ENST00000284771Q53GG5
ENSG00000154553ENST00000505886D6RAF1
ENSG00000154553ENST00000512293D6RAF1
ENSG00000154553ENST00000620787A0A087WYF8
ENSG00000154553ENST00000629667D6RAF1
ENSG00000154553ENST00000643009A0A2R8Y6L7

Expression (GTEx)

0
500
1000
1500

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194123282008Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.67
150846042004The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line.23
262142762015Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.15
215490962011Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.12
172548212007Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy.8
208015322010Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.5

Citation

Dessen P

PDLIM3 (PDZ and LIM domain 3)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50964/pdlim3