SUPT20HL2 Gene: SPT20 Homolog, SAC3/GANP Family Member, Pseudogene
A pseudogene with limited functional annotation, located on chromosome X, potentially involved in transcriptional regulation.
Gene Information Card
| Symbol | SUPT20HL2 |
|---|---|
| Full Name | SPT20 homolog, SAC3/GANP family member, pseudogene |
| Gene Type | pseudogene |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 100131879 ncbi.nlm.nih.gov/gene/100131879 |
| Ensembl ID | ENSG00000231011 |
| UniProt ID | None (pseudogene) |
| OMIM ID | None |
| HGNC ID | 37225 |
| Aliases | C20orf75-like, dJ686N10.2 |
Description
SUPT20HL2 is an unprocessed pseudogene located on chromosome X (Xq13.1). It is part of the SPT20/SAC3/GANP family, which in functional genes is involved in transcriptional regulation and mRNA export. As a pseudogene, it is not expected to produce a functional protein. Its genomic sequence shows similarity to the SUPT20H gene, but it contains frameshift mutations and premature stop codons, rendering it non-coding. The biological significance of this pseudogene is largely unknown, and it is not associated with any known disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association | Not applicable | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| No data | N/A | Not expressed as protein (pseudogene) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data | N/A | Not expressed as protein (pseudogene) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not applicable (pseudogene, no functional protein)
Gain of Function (GOF)
Not applicable (pseudogene, no functional protein)
Dominant Negative (DN)
Not applicable (pseudogene, no functional protein)
View complete mutation data：
Protein Summary
No protein product is produced from SUPT20HL2 due to its pseudogene status. It lacks a complete open reading frame and is not annotated in UniProt. Therefore, no protein structure or function can be described.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUPT20HL2 Knockout HEK293 Cell Line | EDJ-KQ15569 | Human | 170067 | Details Get a Quote |
| SUPT20HL2 Knockout HeLa Cell Line | EDJ-KQ58928 | Human | 170067 | Details Get a Quote |
| SUPT20HL2 Knockout A-549 Cell Line | EDJ-KQ67416 | Human | 170067 | Details Get a Quote |
| SUPT20HL2 Knockout HCT 116 Cell Line | EDJ-KQ75811 | Human | 170067 | Details Get a Quote |
