• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MID2 (HGNC:7096) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
midline 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FXY2, TRIM1, RNF60, MRX101
%HI
9.45(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.18(Read more about gnomAD pLI score)
LOEUF
0.5(Read more about gnomAD LOEUF score)
Cytoband
Xq22.3
Genomic Coordinates
GRCh37/hg19: chrX:107068965-107174867 NCBI Ensembl UCSC
GRCh38/hg38: chrX:107825735-107931637 NCBI Ensembl UCSC
MANE Select Transcript
NM_012216.4 ENST00000262843.11 (Read more about MANE Select)
Function
E3 ubiquitin ligase that plays a role in microtubule stabilization. Mediates the 'Lys-48'-linked polyubiquitination of LRRK2 to drive its localization to microtubules and its proteasomal degradation in neurons. This ubiquitination inhibits LRRK2 kinase activation by RAB29 (PubMed:35266954). {ECO:0000269|PubMed:35266954, ECO:0000303|PubMed:24115387}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14014
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/25/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There are no reports of deletions or other loss of function mutations found in humans.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Jehee et al. (2005) report a patient with features of FG syndrome with a ~4 Mb duplication that includes MID2, as well as 15 other genes. They proposed this region as a new locus for FG (FG5). The duplication was inherited from a normal mother who had random X-inactivation. There have been no reports of focal duplications of MID2.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)