LMTK3
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LMTK3 (HGNC:19295) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lemur tyrosine kinase 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA1883, LMR3, TYKLM3, PPP1R101
%HI
70.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.89(Read more about gnomAD pLI score)
LOEUF
0.52(Read more about gnomAD LOEUF score)
Cytoband
19q13.33
Genomic Coordinates
GRCh37/hg19: chr19:48988528-49016446 NCBI Ensembl UCSC
GRCh38/hg38: chr19:48485271-48513680 NCBI Ensembl UCSC
MANE Select Transcript
NM_001388485.1 ENST00000600059.6 (Read more about MANE Select)
Function
Protein kinase which phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. May also regulate ESR1 levels indirectly via a PKC-AKT-FOXO3 pathway where it decreases the activity of PKC and the phosphorylation of AKT, thereby increasing binding of transcriptional activator FOXO3 to the ESR1 promoter and increasing ESR1 transcription (PubMed:21602804). Involved in endocytic trafficking of N-methyl-D-aspartate receptors (NMDAR) in neurons (By similarity). {ECO:0000250|UniPro... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21413
ClinGen Curation ID:
CCID:007411
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/25/2018

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 28263302
    C Yuen RK et. al., 2017. Reported WGS of 5,205 samples from families with ASD, accompanied by clinical information, in an effort to build a resource, named MSSNG, to enable the sub-categorization of phenotypes and underlying genetic factors involved. Among all patients with de novo LOF variants, a patient (ID: 1-0590-003) was found to carrier a de novo frame shift 1-bp deletion in LMTK3 gene (supplementary table 4). No functional study was performed.
  • PUBMED: 22542183
    Iossifov et al. 2012. Exome sequencing of a subset of the Simons Simplex Collection including 343 families, each with a single child on the autism spectrum and at least one unaffected sibling. This study revealed de novo small indels and point substitutions came mostly from the paternal line in a age-dependent manner. Although there was no significant different numbers of de novo missense mutations in affected versus unaffected children, gene-disrupting mutations (nonsense, splice site, and frame shifts) are twice as frequent in the affected group. Among them, a de novo frame shift variant was identified in a Proband (patient 13092). But no functional study was performed neither. Of note,
HI Evidence Comments:
PMID: 28008999. A GWAS study in Poland aimed to define the genetic architecture of pediatric and adult-onset inflammatory bowel diseases (IBDs for the Polish population. This study recruited a total of 1495 patients, including 761 patients with Crohn’s disease (424 pediatric), 734 patients with ulcerative colitis (390 pediatric), and 934 healthy controls. multiple pediatric patients were found to be homozygous for a missense variant (p.Glu1315Asp) in LMTK3 gene, while it is not present in adults or healthy controls as homozygotes. No functional study was performed.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)