Methyl-CpG Binding Protein 2

Alternative Names

  • MECP2
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OMIM Number

300005

NCBI Gene ID

4204

Uniprot ID

P51608

Length

115531 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Methyl-CpG-binding protein 2

Molecular Mass

52441Da

Amino Acid Count

486

Genomic Location

chrX:154021573-154137103

Gene Map Locus
Xq28

Description

The human MECP2 gene consists of 9 exons and it encodes Mecp2 (methyl-CpG-binding protein 2) protein that belongs to the methyl-CpG binding domain protein family. These proteins are characterised by the presence of a methyl-CpG binding domain (MBD) consisting of 85 amino acids. MBD binds to methylated CpGs present on DNA and promotes chromatin compaction. In addition to the MBD, Mecp2 protein also contains TRD (transcriptional-repression domain) that is involved in transcriptional repression along with other transcriptional repressors, such as mSin3A and histone deacetylases. Furthermore, studies show that Mecp2 plays a critical role in neural maturation and differentiation, as well as embryonic development.

Mutations in MECP2 gene are associated with Rett Syndrome and mental retardation X-linked with progressive spasticity.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000023.11:g.154029098_154030767delUnited Arab EmiratesNC_000023.11:g.154029098_154030767delPathogenicRett Syndrome
NM_001110792.1:c.722C>AUnited Arab EmiratesNC_000023.11:g.154031142G>TPathogenicLikely PathogenicRett SyndromeNG_007107.2:g.110986C>A; NM_001110792.1:c.722C>A; NP_001104262.1:p.Ser241Ter61749739143658
NM_001110792.1:c.932C>TUnited Arab EmiratesNC_000023.11:g.154030932G>ALikely PathogenicAutism, Susceptibility to, X-Linked 3NG_007107.2:g.111196C>T; NM_001110792.1:c.932C>T; NP_001104262.1:p.Thr311Ile
NM_001110792.2:c.1104C>GSaudi ArabiaNC_000023.11:g.154030760G>CLikely PathogenicRett SyndromeNG_007107.3:g.111344C>G; NM_001110792.2:c.1104C>G; NP_001104262.1:p.Ser368Arg
NM_001110792.2:c.352C>TSaudi ArabiaNC_000023.11:g.154032268G>ALikely Pathogenic, PathogenicLikely PathogenicRett SyndromeNG_007107.3:g.109836C>T; NM_001110792.2:c.352C>T; NP_001104262.1:p.Arg118Trp2893490711814
NM_001110792.2:c.433C>TSaudi ArabiaNC_000023.11:g.154031431G>APathogenicLikely PathogenicRett SyndromeNG_007107.3:g.110673C>T; NM_001110792.2:c.433C>T; NP_001104262.1:p.Arg145Cys2893490411809
NM_001110792.2:c.538C>TSaudi ArabiaNC_000023.11:g.154031326G>APathogenicLikely PathogenicRett SyndromeNG_007107.3:g.110778C>T; NM_001110792.2:c.538C>T; NP_001104262.1:p.Arg180Ter6174842111828
NM_001110792.2:c.916C>TSaudi ArabiaNC_000023.11:g.154030948G>APathogenicLikely PathogenicRett SyndromeNG_007107.3:g.111156C>T; NM_001110792.2:c.916C>T; NP_001104262.1:p.Arg306Ter6175136211819
NM_001110792.2:c.952C>TSaudi ArabiaNC_000023.11:g.154030912G>APathogenicLikely PathogenicRett SyndromeNG_007107.3:g.111192C>T; NM_001110792.2:c.952C>T; NP_001104262.1:p.Arg318Cys2893546811824
NM_004992.3:c.1093_1095delGAGLebanonNC_000023.11:g.154030735_154030737delUncertain SignificanceRett SyndromeNG_007107.2:g.111393_111395del; NM_004992.3:c.1093_1095delGAG; NP_004983.1:p.Glu365del786205032189746
NM_004992.3:c.1157_1200delLebanonNC_000023.11:g.154030630_154030673delLikely PathogenicRett SyndromeNG_007107.2:g.111457_111500del; NM_004992.3:c.1157_1200del; NP_004983.1:p.Leu386GlnfsTer463749748143372
NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCALebanonChrX:154030644-154030664PathogenicPathogenicRett SyndromeNG_007107.2:g.111464_111484delinsCTGAGCCCCAGGACTTGAGCA; NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA; NP_004983.1:p.Pro389Ter786205019189665
NM_004992.3:c.316C>TLebanonChrX:154032268Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicRett SyndromeNG_007107.2:g.109860C>T; NM_004992.3:c.316C>T; NP_004983.1:p.Arg106Trp2893490711814
NM_004992.3:c.397C>TLebanonChrX:154031431PathogenicPathogenicRett SyndromeNG_007107.2:g.110697C>T; NM_004992.3:c.397C>T; NP_004983.1:p.Arg133Cys2893490411809
NM_004992.3:c.473C>TLebanonChrX:154031355Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicRett SyndromeNG_007107.2:g.110773C>T; NM_004992.3:c.473C>T; NP_004983.1:p.Thr158Met2893490611811
NM_004992.3:c.502C>TLebanonChrX:154031326PathogenicPathogenicRett SyndromeNG_007107.2:g.110802C>T; NM_004992.3:c.502C>T; NP_004983.1:p.Arg168Ter6174842111828
NM_004992.3:c.674C>GLebanonChrX:154031154PathogenicPathogenicRett SyndromeNG_007107.2:g.110974C>G; NM_004992.3:c.674C>G; NP_004983.1:p.Pro225Arg61749715143653
NM_004992.3:c.763C>TLebanonChrX:154031065Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicRett SyndromeNG_007107.2:g.111063C>T; NM_004992.3:c.763C>T; NP_004983.1:p.Arg255Ter6174972111829
NM_004992.3:c.808C>TLebanonChrX:154031020PathogenicPathogenicRett SyndromeNG_007107.2:g.111108C>T; NM_004992.3:c.808C>T; NP_004983.1:p.Arg270Ter6175024011815
NM_004992.3:c.916C>TLebanonChrX:154030912PathogenicPathogenicRett SyndromeNG_007107.2:g.111216C>T; NM_004992.3:c.916C>T; NP_004983.1:p.Arg306Cys2893546811824
NM_004992.3:c.964C>GLebanonNC_000023.11:g.154030864G>CPathogenicRett SyndromeNG_007107.2:g.111264C>G; NM_004992.3:c.964C>G; NP_004983.1:p.Pro322Ala61751449143753

Other Reports

United Arab Emirates

Saleh et al (2021) described a patient with Rett Syndrome with a deletion on chromosome X (153294549-153296218) encompassing part of exon 4 and the 3' UTR of the MECP2 gene. 

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