FAM3D Gene - Family with Sequence Similarity 3 Member D
Comprehensive genomic, expression, and functional analysis of FAM3D
Gene Information Card
| Symbol | FAM3D |
|---|---|
| Full Name | Family with sequence similarity 3 member D |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 131177 ncbi.nlm.nih.gov/gene/131177 |
| Ensembl ID | ENSG00000163930 |
| UniProt ID | Q96BQ1 |
| OMIM ID | 611903 |
| HGNC ID | 25952 |
| Aliases | EF-7, OIT1 |
Description
FAM3D (Family with sequence similarity 3 member D) is a protein-coding gene located on chromosome 3p21.31. The encoded protein is a secreted cytokine-like factor belonging to the FAM3 family. It is involved in immune regulation and may play a role in inflammatory responses. FAM3D is expressed in various tissues, with highest levels in the placenta, pancreas, and gastrointestinal tract.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | Potential role in glucose homeostasis and insulin secretion; altered expression observed in pancreatic islets | PMID: 20467437 |
| Inflammatory Bowel Disease | Upregulated in intestinal inflammation; may modulate immune cell recruitment | PMID: 23749634 |
| Colorectal Cancer | Differential expression in tumor vs normal tissue; possible involvement in tumor microenvironment | PMID: 26030138 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 45.2 | High |
| Pancreas | 38.7 | High |
| Small Intestine | 32.1 | High |
| Stomach | 28.5 | Medium |
| Colon | 22.3 | Medium |
| Liver | 15.8 | Low |
| Lung | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical adenocarcinoma |
| HepG2 | 12.3 | Hepatocellular carcinoma |
| A549 | 9.8 | Lung carcinoma |
| MCF7 | 7.2 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | <0.01% | Unknown functional impact |
| c.412G>A (p.Gly138Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • cytokine activity (GO:0005125) | • immune response (GO:0006955) |
| • signal transduction (GO:0007165) |
Pathways
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Inflammatory mediator regulation of TRP channels (KEGG: hsa04750)
Protein Summary
FAM3D encodes a secreted protein of 224 amino acids (UniProt Q96BQ1) with a signal peptide and a cytokine-like domain. It is a member of the FAM3 family, which includes four members (FAM3A, FAM3B, FAM3C, FAM3D). The protein is involved in immune modulation and may regulate inflammatory responses. It is expressed in multiple tissues, particularly in placenta, pancreas, and gastrointestinal tract. No three-dimensional structure has been experimentally determined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM3D Knockout HEK293 Cell Line | EDJ-KQ8498 | Human | 131177 | Details Get a Quote |
| FAM3D Knockout HeLa Cell Line | EDJ-KQ58292 | Human | 131177 | Details Get a Quote |
| FAM3D Knockout A-549 Cell Line | EDJ-KQ66780 | Human | 131177 | Details Get a Quote |
| FAM3D Knockout HCT 116 Cell Line | EDJ-KQ75183 | Human | 131177 | Details Get a Quote |
