MYO5B |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MYO5B (HGNC:7603) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- myosin VB
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA1119
- %HI
- 46.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.71(Read more about gnomAD LOEUF score)
- Cytoband
- 18q21.1
- Genomic Coordinates
-
GRCh37/hg19: chr18:47349159-47721517 NCBI Ensembl UCSC GRCh38/hg38: chr18:49822789-50195147 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001080467.3 ENST00000285039.12 (Read more about MANE Select)
- Function
- May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Tog... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-37100
ClinGen Curation ID:
CCID:007512
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/09/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- microvillus inclusion disease Monarch
HI Evidence Comments:
Variants in MYO5B have been reported in association with microvillus inclusion disease, an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)