CYB561D2: Cytochrome B561 Family Member D2
A putative transmembrane electron transfer protein with limited functional characterization
Gene Information Card
| Symbol | CYB561D2 |
|---|---|
| Full Name | Cytochrome B561 Family Member D2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 11068 ncbi.nlm.nih.gov/gene/11068 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | Q8NF99 |
| OMIM ID | 619758 |
| HGNC ID | 25707 |
| Aliases | C3orf64, FLJ22604, bA68C15.1 |
Description
CYB561D2 encodes a member of the cytochrome b561 family, a group of transmembrane proteins that typically function as electron transfer carriers. The protein contains a conserved cytochrome b561 domain and is predicted to localize to cellular membranes. Its specific biological role remains incompletely understood, but it may participate in ascorbate-dependent electron transport or other redox processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association currently curated | Not established | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.3 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.2 | Low |
| Kidney | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No functional data available
Gain of Function (GOF)
No functional data available
Dominant Negative (DN)
No functional data available
View complete mutation data：
Gene Ontology (GO)
| • electron transfer activity (GO:0009055) | • integral component of membrane (GO:0016021) |
| • heme binding (GO:0020037) |
Protein Summary
CYB561D2 is a 229-amino acid transmembrane protein with a single cytochrome b561 domain. It is predicted to bind heme and participate in electron transfer across membranes. The protein is expressed at low levels in several tissues, with highest RNA expression in testis. No functional studies or disease associations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYB561D2 Knockout HEK293 Cell Line | EDJ-KQ51037 | Human | 11068 | Details Get a Quote |
| CYB561D2 Knockout HeLa Cell Line | EDJ-KQ55561 | Human | 11068 | Details Get a Quote |
| CYB561D2 Knockout A-549 Cell Line | EDJ-KQ64056 | Human | 11068 | Details Get a Quote |
| CYB561D2 Knockout HCT 116 Cell Line | EDJ-KQ72505 | Human | 11068 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
