MID2 |
- 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)
Haploinsufficiency (HI) Score Details
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
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.