PDZ and LIM Domain Protein 5

Alternative Names

  • PDLIM5
  • Enigma-Like LIM Domain Protein
  • Enigma Homolog
  • ENH

Associated Diseases

Schizophrenia
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OMIM Number

605904

NCBI Gene ID

10611

Uniprot ID

Q96HC4

Length

216,282 bases

No. of Exons

21

No. of isoforms

7

Protein Name

PDZ and LIM domain protein 5

Molecular Mass

63945 Da

Amino Acid Count

596

Genomic Location

chr4:94,451,941-94,668,222

Gene Map Locus
4q22.3

Description

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. From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006457.5:c.*1006A>GUnited Arab EmiratesNC_000004.12:g.94665073A>GAssociationSchizophreniaNM_006457.5:c.*1006A>G; NP_006448.5:p.?14082
NM_006457.5:c.*1054delUnited Arab EmiratesNC_000004.12:g.94665121delAssociationSchizophreniaNM_006457.5:c.*1054del; NP_006448.5:p.?11339365
NM_006457.5:c.*1061T>CUnited Arab EmiratesNC_000004.12:g.94665128T>CBenignNM_006457.5:c.*1061T>C; NP_006448.5:p.?10590
NM_006457.5:c.1141A>GUnited Arab EmiratesNC_000004.12:g.94640308A>GBenignNM_006457.5:c.1141A>G; NP_006448.5:p.Thr381Ala7690296
NM_006457.5:c.1162C>TUnited Arab EmiratesNC_000004.12:g.94640329C>TBenignNM_006457.5:c.1162C>T; NP_006448.5:p.Pro388Ser7690464
NM_006457.5:c.1283+412G>AUnited Arab EmiratesNC_000004.12:g.94640862G>ABenignNM_006457.5:c.1283+412G>A; NP_006448.5:p.?12641023
NM_006457.5:c.407C>TUnited Arab EmiratesNC_000004.12:g.94575731C>TBenignNM_006457.5:c.407C>T; NP_006448.5:p.Ser136Phe2452600
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