Midline 2

Alternative Names

  • MID2
  • Midin 2
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OMIM Number

300204

NCBI Gene ID

11043

Uniprot ID

Q9UJV3

Length

105,903 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Probable E3 ubiquitin-protein ligase MID2

Molecular Mass

83210 Da

Amino Acid Count

735

Genomic Location

chrX:107,825,735-107,931,637

Gene Map Locus
Xq22.3

Description

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012216.4:c.166C>TTunisiaNC_000023.11:g.107840831C>TUncertain SignificanceIntellectual Developmental Disorder, X-Linked 101NG_011907.2:g.19978C>T; NM_012216.4:c.166C>T; NP_036348.2:p.Arg56Cys1458358006
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