| Name | macrophage immunometabolism regulator |
| Description | This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n MACIR—recently characterized as the gene formerly known as C5orf30—has emerged as a critical regulator in inflammatory arthritis as well as a potential player in cancer biology. In rheumatoid arthritis (RA), MACIR is highly expressed in synovial tissue, particularly in fibroblast‐like synoviocytes and macrophages. Functional studies show that reduced MACIR expression leads to increased cell migration and invasion, accompanied by up‐regulation of genes involved in cell adhesion, angiogenesis, and inflammatory signaling. This loss of MACIR function contributes to the aggressive, autoaggressive phenotype of synovial fibroblasts, thereby exacerbating joint inflammation and tissue destruction in RA ["}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "].\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its role in autoimmunity, MACIR has been implicated in oncogenic processes. Fusion transcripts involving MACIR—such as the CCNH–C5orf30 chimeric transcript—have been detected in prostate cancer and hepatocellular carcinoma. The presence of these fusion transcripts correlates with cancer recurrence, metastasis, and aggressive disease phenotypes, suggesting that aberrations in MACIR gene structure may contribute to tumor progression ["}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "].\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, MACIR functions as a negative regulator of tissue damage in RA by modulating the invasive and inflammatory behavior of synovial cells, and its genetic variants are associated with both disease susceptibility and severity. Moreover, its involvement in fusion events in cancers points to a potential role in promoting malignant progression. These multifaceted roles make MACIR an important biomarker and potential therapeutic target in both autoimmune and oncologic settings.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Munitta Muthana, Sarah Hawtree, Adam Wilshaw, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C5orf30 is a negative regulator of tissue damage in rheumatoid arthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1501947112"}], "href": "https://doi.org/10.1073/pnas.1501947112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26316022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26316022"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "M Dawn Teare, Rachel Knevel, Michael D Morgan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Allele-dose association of the C5orf30 rs26232 variant with joint damage in rheumatoid arthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arthritis Rheum (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/art.38064"}], "href": "https://doi.org/10.1002/art.38064"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23817893"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23817893"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "H W van Steenbergen, J A B van Nies, A Ruyssen-Witrand, et al. "}, {"type": "b", "children": [{"type": "t", "text": "IL2RA is associated with persistence of rheumatoid arthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arthritis Res Ther (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13075-015-0739-6"}], "href": "https://doi.org/10.1186/s13075-015-0739-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26350950"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26350950"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sebastien Viatte, Darren Plant, John Bowes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Rheum Dis (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/annrheumdis-2011-201225"}], "href": "https://doi.org/10.1136/annrheumdis-2011-201225"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22661644"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22661644"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yan-Ping Yu, Silvia Liu, Joel Nelson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detection of fusion gene transcripts in the blood samples of prostate cancer patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-021-96528-9"}], "href": "https://doi.org/10.1038/s41598-021-96528-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34417538"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34417538"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yan-Ping Yu, Allan Tsung, Silvia Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detection of fusion transcripts in the serum samples of patients with hepatocellular carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2019)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31164957"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31164957"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yan-Ping Yu, Peng Liu, Joel Nelson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of recurrent fusion genes across multiple cancer types."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-019-38550-6"}], "href": "https://doi.org/10.1038/s41598-019-38550-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30705370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30705370"}]}]}]}
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| NCBI Gene ID | 90355 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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MACIR has 1,749 functional associations with biological entities spanning 5 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 18 datasets.
Click the + buttons to view associations for MACIR from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of MACIR gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of MACIR gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with MACIR gene from the CellMarker Gene-Cell Type Associations dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of MACIR gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving MACIR gene from the curated GO Biological Process Annotations2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of MACIR gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of MACIR gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with MACIR gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by MACIR gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of MACIR gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of MACIR gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of MACIR gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of MACIR gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of MACIR gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of MACIR gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of MACIR gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of MACIR gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of MACIR gene from the RummaGEO Gene Perturbation Signatures dataset. | |