CLTRN Gene

Name collectrin, amino acid transport regulator
Description This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Collectrin (CLTRN, also known as TMEM27) is a type I transmembrane protein that, despite its structural homology to the collectrin‐like domain of ACE2, lacks proteolytic activity and instead functions as an essential chaperone for several neutral amino acid transporters. In the kidney, collectrin facilitates the trafficking, membrane localization, and stability of apical transporters such as B<sub>0</sub>AT1 and B<sub>0</sub>AT3, thereby ensuring efficient amino acid reabsorption and maintaining amino acid homeostasis; loss of collectrin in this context leads to generalized aminoaciduria and metabolic adaptations (1, 2, 6). In contrast, the small intestine utilizes ACE2 rather than collectrin for these functions, illustrating tissue‐specific differences in transporter regulation. Beyond its critical role in renal physiology, collectrin is also expressed in pancreatic β‐cells where it influences insulin secretion and promotes β‐cell proliferation by modulating vesicle trafficking—and its proteolytic shedding by enzymes such as BACE2 further impacts β‐cell mass maintenance (3, 4). Moreover, emerging evidence indicates that collectrin contributes to vascular homeostasis by regulating L‐arginine uptake in endothelial cells, thereby affecting nitric oxide production and blood pressure control (5). Together, these findings establish collectrin as a multifunctional regulator at the crossroads of amino acid transport, metabolic regulation, and vascular function, with potential implications for the pathogenesis and treatment of diabetes, hypertension, and renal disorders.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", (4)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", (5)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", (6)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ursula Danilczyk, Renu Sarao, Christine Remy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Essential role for collectrin in renal amino acid transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature05475"}], "href": "https://doi.org/10.1038/nature05475"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17167413"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17167413"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Simone M R Camargo, Dustin Singer, Victoria Makrides, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gastroenterology (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/j.gastro.2008.10.055"}], "href": "https://doi.org/10.1053/j.gastro.2008.10.055"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19185582"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19185582"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Pinar Akpinar, Satoru Kuwajima, Jan Krützfeldt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tmem27: a cleaved and shed plasma membrane protein that stimulates pancreatic beta cell proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2005.11.001"}], "href": "https://doi.org/10.1016/j.cmet.2005.11.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16330324"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16330324"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sandra M Malakauskas, Wissam M Kourany, Xiao Yin Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased insulin sensitivity in mice lacking collectrin, a downstream target of HNF-1alpha."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Endocrinol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/me.2008-0274"}], "href": "https://doi.org/10.1210/me.2008-0274"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19246514"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19246514"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Sylvia Cechova, Qing Zeng, Marie Billaud, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of collectrin, an angiotensin-converting enzyme 2 homolog, uncouples endothelial nitric oxide synthase and causes hypertension and vascular dysfunction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circulation (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCULATIONAHA.113.003301"}], "href": "https://doi.org/10.1161/CIRCULATIONAHA.113.003301"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24048198"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24048198"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Dustin Singer, Simone M R Camargo "}, {"type": "b", "children": [{"type": "t", "text": "Collectrin and ACE2 in renal and intestinal amino acid transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Channels (Austin) (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/chan.5.5.16470"}], "href": "https://doi.org/10.4161/chan.5.5.16470"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21814048"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21814048"}]}]}]}
NCBI Gene ID 57393
API
Download Associations
Predicted Functions View CLTRN's ARCHS4 Predicted Functions.
Co-expressed Genes View CLTRN's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View CLTRN's ARCHS4 Predicted Functions.

Functional Associations

CLTRN has 1,013 functional associations with biological entities spanning 6 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 19 datasets.

Click the + buttons to view associations for CLTRN 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 CLTRN gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of CLTRN gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing CLTRN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with CLTRN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with CLTRN gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving CLTRN gene from the curated GO Biological Process Annotations2025 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by CLTRN gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of CLTRN gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of CLTRN gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of CLTRN 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 CLTRN gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of CLTRN gene from the NIBR DRUG-seq U2OS MoA Box dataset.
Reactome Pathways 2024 pathways involving CLTRN protein from the Reactome Pathways 2024 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of CLTRN gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of CLTRN gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of CLTRN gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of CLTRN protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with CLTRN protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving CLTRN protein from the WikiPathways Pathways 2024 dataset.