Property Summary

NCBI Gene PubMed Count 33
Grant Count 75
R01 Count 39
Funding $28,359,059.92
PubMed Score 715.77
PubTator Score 267.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
ependymoma -2.700 0.030
psoriasis -2.000 0.007
astrocytoma -1.900 0.005
glioblastoma -1.900 0.007
oligodendroglioma -1.300 0.000
group 4 medulloblastoma -2.200 0.003
atypical teratoid/rhabdoid tumor -2.200 0.000
primitive neuroectodermal tumor -1.400 0.007
acute quadriplegic myopathy -1.570 0.000
lung cancer -2.300 0.000
colon cancer -3.300 0.000
pediatric high grade glioma -2.100 0.000
pilocytic astrocytoma -2.200 0.000
subependymal giant cell astrocytoma -1.877 0.005
Pick disease -1.300 0.032
ovarian cancer -1.200 0.049

Synonym

Accession O75112 A2TDB7 A6NIV4 B4E3K3 Q5K6N9 Q5K6P0 Q5K6P1 Q96FH2 Q9Y4Z3 Q9Y4Z4 Q9Y4Z5
Symbols MFM4
ZASP
CMD1C
CMH24
CMPD3
LVNC3
CYPHER
LDB3Z1
LDB3Z4
ORACLE
PDLIM6

Gene

PDB

1RGW   4YDP  

Gene RIF (15)

PMID Text
25041374 this is the first family with Arrhythmogenic right ventricular cardiomyopathy where a mutation in LDB3 is associated with Arrhythmogenic right ventricular cardiomyopathy
24878509 Study identified abnormal inclusion of LDB3 exon 11 specific to myotonic dystrophy type at the RNA and protein level; inclusion changed the affinity of LDB3 for PKC, indicating that exon 11 may contribute to the activation of PKC in DM1
24668811 results show that MFM-associated ZASP mutations in the actin-binding domain have deleterious effects on the core structure of the Z-discs in skeletal muscle.
23271734 Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils
22929165 ZASP1 can form protein complex with telethonin/T-Cap and Na(v)1.5. The left ventricular noncompaction-specific ZASP1 mutation can cause loss of function of Na(v)1.5, without significant alteration of the cytoskeletal protein complex.
22349865 This results of this indicted that One patient harbored the missense mutation c.1719G>A (p.V566M) in the ZASP gene.
20474083 Observational study of genetic testing. (HuGE Navigator)
20201937 Observational study of gene-disease association. (HuGE Navigator)
20066428 TNNT3 and LDB3 showed abnormal splicing and appeared more pronounced in myotonic dystrophies type 2 relative to myotonic dystrophies type 1.
19472918 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIK      1 - 70
SASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRP     71 - 140
TFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREM    141 - 210
AQMYQMSLRGKASGVGLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQ    211 - 280
MTGTEFMQDPDEEALRRSSTPIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASAST    281 - 350
TAPASSPADSPRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSP    351 - 420
GANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPW    421 - 490
VTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRG    491 - 560
PFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWH    561 - 630
TTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVC    631 - 700
HVNLEGQPFYSKKDRPLCKKHAHTINL                                               701 - 727
//

Text Mined References (35)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25041374 2015 A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.
24878509 2014 LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.
24668811 2014 Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.
23996002 2013 Cypher/ZASP is a novel A-kinase anchoring protein.
23271734 2013 Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked ?-N-acetylglucosamine-substituted protein in human heart myofibrils.
22929165 2012 Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction.
22349865 2012 Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
20201937 2010 Common susceptibility variants examined for association with dilated cardiomyopathy.
More...