Protein-coding gene in the species Homo sapiens
SLC49A4 |
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Identifiers |
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Aliases | SLC49A4, RCC4, disrupted in renal carcinoma 2, solute carrier family 49 member 4, DIRC2 |
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External IDs | OMIM: 602773; MGI: 2387188; HomoloGene: 13137; GeneCards: SLC49A4; OMA:SLC49A4 - orthologs |
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Gene location (Human) |
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![Chromosome 3 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/3/39/Ideogram_human_chromosome_3.svg/300px-Ideogram_human_chromosome_3.svg.png) | Chr. | Chromosome 3 (human)[1] |
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| Band | 3q21.1 | Start | 122,795,069 bp[1] |
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End | 122,881,139 bp[1] |
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Gene location (Mouse) |
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![Chromosome 16 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/2/28/Ideogram_house_mouse_chromosome_16.svg/260px-Ideogram_house_mouse_chromosome_16.svg.png) | Chr. | Chromosome 16 (mouse)[2] |
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| Band | 16|16 B3 | Start | 35,514,432 bp[2] |
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End | 35,589,726 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - secondary oocyte
- skin of arm
- placenta
- decidua
- tibialis anterior muscle
- cardiac muscle tissue of right atrium
- deltoid muscle
- pancreatic epithelial cell
- myocardium of left ventricle
- gingival epithelium
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| Top expressed in | - muscle of thigh
- sternocleidomastoid muscle
- triceps brachii muscle
- gastrocnemius muscle
- interventricular septum
- quadriceps femoris muscle
- temporal muscle
- knee joint
- vastus lateralis muscle
- skeletal muscle tissue
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| More reference expression data |
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BioGPS | |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 3: 122.8 – 122.88 Mb | Chr 16: 35.51 – 35.59 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Disrupted in renal carcinoma 2 is a protein that in humans is encoded by the DIRC2 gene.[5]
Function
This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000138463 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022848 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Disrupted in renal carcinoma 2".
Further reading
- Savalas LR, Gasnier B, Damme M, Lübke T, Wrocklage C, Debacker C, Jézégou A, Reinheckel T, Hasilik A, Saftig P, Schröder B (Oct 2011). "Disrupted in renal carcinoma 2 (DIRC2), a novel transporter of the lysosomal membrane, is proteolytically processed by cathepsin L" (PDF). The Biochemical Journal. 439 (1): 113–28. doi:10.1042/BJ20110166. PMID 21692750.
- Bodmer D, Eleveld M, Kater-Baats E, Janssen I, Janssen B, Weterman M, Schoenmakers E, Nickerson M, Linehan M, Zbar B, van Kessel AG (Mar 2002). "Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21)". Human Molecular Genetics. 11 (6): 641–9. doi:10.1093/hmg/11.6.641. PMID 11912179.
- Bodmer D, Janssen I, Jonkers Y, van den Berg E, Dijkhuizen T, Debiec-Rychter M, Schoenmakers E, van Kessel AG (Jul 2002). "Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints". Cancer Genetics and Cytogenetics. 136 (2): 95–100. doi:10.1016/s0165-4608(02)00517-4. PMID 12237231.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.