• Gene id: 4209

Gene Summary

• Gene Symbol: MEF2D   Gene   UCSC   Ensembl
• Gene name: myocyte enhancer factor 2D
• Alternate names: myocyte-specific enhancer factor 2D, MADS box transcription enhancer factor 2, polypeptide D,
• Gene location: 1q22 (156500839: 156463726)     Exons: 17     NC_000001.11
• Gene summary(Entrez): This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deace
• OMIM: 600663

Protein Summary

• Protein general information: Q14814  
  • Name: Myocyte specific enhancer factor 2D
  • Length: 521  
  • Mass: 55938
• Sequence:

  MGRKKIQIQRITDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNHSNKLFQYASTDMDKVLLKYTEYNEP
  HESRTNADIIETLRKKGFNGCDSPEPDGEDSLEQSPLLEDKYRRASEELDGLFRRYGSTVPAPNFAMPVTVPVSN
  QSSLQFSNPSGSLVTPSLVTSSLTDPRLLSPQQPALQRNSVSPGLPQRPASAGAMLGGDLNSANGACPSPVGNGY
  VSARASPGLLPVANGNSLNKVIPAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGV
  SQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQ
  PQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHPHISIKSEPVSPSRERS
  PAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDTWTLK

• Structural information:
  • Protein Domains: (3..5-)
    (/note="MADS-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00251"-)
  • Interpro: IPR022102  IPR033896  IPR002100  IPR036879  
  • Prosite: PS00350 PS50066
  • CDD: cd00265
  • STRING: ENSP00000271555
• Other Databases: GeneCards:  MEF2D  Malacards:  MEF2D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0042826	histone deacetylase binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0007517	muscle organ development	TAS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001958	endochondral ossification	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IGI	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0007512	adult heart development	IEP	biological process
GO:0033613	activating transcription factor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04371	Apelin signaling pathway
hsa04928	Parathyroid hormone synthesis, secretion and action
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq