TMEM165 Chromosome 4
Transmembrane protein 165
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What This Gene Does
This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
Solute carrier family 64
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000134851
Associated Conditions (1)
TMEM165-congenital disorder of glycosylation
Key Variants
RS11542641
Conflicting classifications of pathogenicity
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
RS370138167
Conflicting classifications of pathogenicity
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
RS387907222
Conflicting classifications of pathogenicity
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
RS747450377
Conflicting classifications of pathogenicity
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
RS1560383746
Likely pathogenic
Health Risk
RS2545501546
Pathogenic
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
RS387907221
Pathogenic
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
RS793888506
Pathogenic
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
RS886037631
Pathogenic
TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11542641 | Health Risk | Conflicting classifications of pathogenicity | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |
| RS370138167 | Health Risk | Conflicting classifications of pathogenicity | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |
| RS387907222 | Health Risk | Conflicting classifications of pathogenicity | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |
| RS747450377 | Health Risk | Conflicting classifications of pathogenicity | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |
| RS1560383746 | Health Risk | Likely pathogenic | — |
| RS2545501546 | Health Risk | Pathogenic | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |
| RS387907221 | Health Risk | Pathogenic | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |
| RS793888506 | Health Risk | Pathogenic | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |
| RS886037631 | Health Risk | Pathogenic | TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation |