Table 2.
HML7 proviral sequences colocalized with cellular genes.
| HML7 Locus |
Colocalized Gene Info | ||||
|---|---|---|---|---|---|
| Name | Portion | Description | Function | Associated Diseases | |
| 1q43 (+) |
PLD5 (−) |
intronic, antisense |
Phospholipase D family member 5 | Hydrolyzes phosphatidylcholine | Type 7 nephrotic syndrome; hemopneumothorax |
| 2q31.1 (−) |
MYO3B (+) |
intronic, antisense |
Myosin IIIB | Probable actin-based ATPase with protein kinase activity. Required for normal cochlear development and hearing | Autosomal recessive deafness 30; entropion |
| 3q23 (+) |
GK5 (−) |
intronic, antisense |
Glycerol kinase 5 | Glycerol degradation, triacylglycerol biosynthesis | Type 1 Diabetes Mellitus 3 and 7 |
| 3q26.1 (+) |
LINC01322 (+) |
intronic, sense | long intergenic non-coding RNA 1322 | - | - |
| 4q25 (−) |
LRIT3 (+) |
intronic, antisense |
Leucine rich repeat Ig-Like transmembrane domains 3 | May regulate fibroblast growth factor receptors and affect their post-translational modification | Congenital stationary night blindness |
| 5q22.3 (−) |
KCNN2 (+) |
intronic, antisense |
Potassium calcium-activated channel subfamily N member 2 | Forms a voltage-independent potassium channel activated by intracellular calcium following membrane hyperpolarization | Lingual-facial-buccal dyskinesia and aceruloplasminemia |
| 6p12.3 (−) |
GLYATL3 (+) |
intronic, antisense |
Glycine-N-acyltransferase like 3 | Catalyzes the conjugation of long-chain fatty acyl-CoA thioester and glycine, an intermediate in primary fatty acid biosynthesis | - |
| 7q21.12 (−) |
RUNDC3B (+) |
intronic, antisense |
RUN domain-containing protein 3B | Encodes a predicted RAP2-interacting protein. May play a role in RAS-like GTPase signaling pathways | - |
| 7q36.2 (−) |
DPP6 (+) |
intronic, antisense |
dipeptidyl peptidase like 6, transcript variant 6 | Member of S9B family of serine proteases (without detectable activity). Promotes cell surface expression of KCND2 potassium channel and modulates its gating activity |
Autosomal dominant mental retardation; paroxysmal familial ventricular fibrillation |
| 15q24.3 (+) |
SCAPER (−) |
intronic, antisense |
S-phase cyclin A associated protein in the endoplasmic reticulum | Cyclin A/Cdk2 regulatory protein that transiently maintains cyclin A in the cytoplasm | Intellectual developmental disorder and retinitis pigmentosa; brachydactyly |
| Xq22.3 (−) |
IL1RAPL2 (+) |
intronic, antisense |
Interleukin 1 receptor accessory protein like 2 | Orphan receptor in the IL1R superfamily | Cinca syndrome; Muckle-Wells syndrome |
The table shows in order: The locus of each HML7 and its strand, the name of the colocalized gene and its strand, the intronic/exonic and sense/antisense localization of the HML7 element, and the description of the gene product and its function. In the last column, the pathologies associated so far with each gene are also reported (source: OMIM database).