SIGLEC12
Sialic acid-binding Ig-like lectin 12 (pseudogene)
Gene Information Card
| Symbol | SIGLEC12 |
|---|---|
| Full Name | sialic acid binding Ig-like lectin 12 (pseudogene) |
| Gene Type | pseudogene |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 89858 ncbi.nlm.nih.gov/gene/89858 |
| Ensembl ID | ENSG00000154582 |
| UniProt ID | Q96PQ1 |
| OMIM ID | 605639 |
| HGNC ID | 13429 |
| Aliases | SIGLEC-12, Siglec-XII, S2V, SLG12 |
Description
SIGLEC12 is a pseudogene located on chromosome 19q13.41 that encodes a sialic acid-binding immunoglobulin-like lectin. In humans, the gene has acquired inactivating mutations, rendering it a pseudogene, though it may retain some functional relevance in certain contexts. It is part of the SIGLEC family involved in immune cell recognition and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered SIGLEC12 expression may affect immune evasion; pseudogene status limits functional studies. | NCBI Gene, OMIM |
| Autoimmune disorders | Potential role in immune regulation; pseudogene inactivation may contribute to altered sialic acid recognition. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No detectable expression |
| HeLa | 0.0 | No detectable expression |
| K562 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | Not reported | Start codon loss; contributes to pseudogene status |
| c.123C>T | SNV | Not reported | Nonsense mutation; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Multiple inactivating mutations (e.g., start codon loss, nonsense) render SIGLEC12 a pseudogene with loss of protein function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not applicable due to pseudogene status.
View complete mutation data：
Protein Summary
SIGLEC12 is a pseudogene and does not produce a functional protein in humans. The ancestral gene encoded a sialic acid-binding Ig-like lectin, but inactivating mutations have abolished its protein-coding capacity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SIGLEC12 Knockout HEK293 Cell Line | EDJ-KQ10525 | Human | 89858 | Details Get a Quote |
| SIGLEC12 Knockout HeLa Cell Line | EDJ-KQ57743 | Human | 89858 | Details Get a Quote |
| SIGLEC12 Knockout A-549 Cell Line | EDJ-KQ66239 | Human | 89858 | Details Get a Quote |
| SIGLEC12 Knockout HCT 116 Cell Line | EDJ-KQ74660 | Human | 89858 | Details Get a Quote |
