MEF2C

GENERAL INFORMATION

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Gene name

MEF2C

Gene description

Myocyte enhancer factor 2C

Protein class

Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

17
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Nuclear expression, most abundant in CNS, skeletal muscle, endothelial and lymphoid cells.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA005533 , CAB068196 , CAB068197
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

MEF2C

Synonyms

Description

Myocyte enhancer factor 2C (HGNC Symbol)

Entrez gene summary

This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

Chromosome

5

Cytoband

q14.3

Chromosome location (bp)

88718158 - 88904105

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000081189 (version 78.38)

Entrez gene

4208

UniProt

Q06413 (UniProt - Evidence at protein level)

neXtProt

NX_Q06413

Antibodypedia

MEF2C antibodies


PROTEIN BROWSER

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ENST00000340208
 
ENST00000424173
 
ENST00000437473
 
ENST00000502831
 
ENST00000502983
 
ENST00000503075
 
ENST00000504921
 
ENST00000506554
 
ENST00000506716
 
ENST00000507984
 
ENST00000508569
 
ENST00000508610
 
ENST00000509373
 
ENST00000510942
 
ENST00000513252
 
ENST00000514015
 
ENST00000514028
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MEF2C-001 ENSP00000426665
ENST00000514028
Q06413
Show all »
Show » Show » 473 51.2 No 0
MEF2C-003 ENSP00000396219
ENST00000437473
Q06413
Show all »
Show » Show » 473 51.2 No 0
MEF2C-004 ENSP00000389610
ENST00000424173
Q06413
Show all »
Show » Show » 463 50.2 No 0
MEF2C-005 ENSP00000340874
ENST00000340208
Q06413
Show all »
Show » Show » 483 52.3 No 0
MEF2C-007 ENSP00000427286
ENST00000502831
D6RJA7
Show all »
Show » Show » 98 11.5 No 0
MEF2C-010 ENSP00000427163
ENST00000502983
D6RCM6
Show all »
Show » Show » 129 14.9 No 0
MEF2C-012 ENSP00000423826
ENST00000513252
D6RC63
Show all »
Show » Show » 242 26.6 No 0
MEF2C-013 ENSP00000426465
ENST00000503075
D6RG14
Show all »
Show » Show » 87 10.3 No 0
MEF2C-014 ENSP00000426442
ENST00000508610
D6RG21
Show all »
Show » Show » 126 14.6 No 0
MEF2C-015 ENSP00000424331
ENST00000507984
D6RB91
Show all »
Show » Show » 120 14.1 No 0
MEF2C-016 ENSP00000423656
ENST00000506716
D6R942
Show all »
Show » Show » 227 25 No 0
MEF2C-017 ENSP00000427309
ENST00000509373
D6RJ95
Show all »
Show » Show » 28 3.5 No 0
MEF2C-022 ENSP00000423597
ENST00000508569
D6R9J8
Show all »
Show » Show » 433 47 No 0
MEF2C-023 ENSP00000424606
ENST00000514015
Q06413
Show all »
Show » Show » 441 47.9 No 0
MEF2C-024 ENSP00000422390
ENST00000510942
Q06413
Show all »
Show » Show » 465 50.3 No 0
MEF2C-025 ENSP00000425636
ENST00000506554
D6RJG6
Show all »
Show » Show » 399 43.1 No 0
MEF2C-201 ENSP00000421925
ENST00000504921
Q06413
Show all »
Show » Show » 417 44.9 No 0