Protein-coding gene in the species Homo sapiens
ABCF2 |
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Identifiers |
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Aliases | ABCF2, ABC28, EST133090, HUSSY18, HUSSY-18, ATP binding cassette subfamily F member 2 |
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External IDs | OMIM: 612510; MGI: 1351657; HomoloGene: 21408; GeneCards: ABCF2; OMA:ABCF2 - orthologs |
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Gene location (Human) |
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![Chromosome 7 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/9/99/Ideogram_human_chromosome_7.svg/300px-Ideogram_human_chromosome_7.svg.png) | Chr. | Chromosome 7 (human)[1] |
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| Band | 7q36.1 | Start | 151,211,484 bp[1] |
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End | 151,227,205 bp[1] |
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Gene location (Mouse) |
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![Chromosome 5 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/c/c0/Ideogram_house_mouse_chromosome_5.svg/260px-Ideogram_house_mouse_chromosome_5.svg.png) | Chr. | Chromosome 5 (mouse)[2] |
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| Band | 5|5 A3 | Start | 24,770,343 bp[2] |
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End | 24,782,465 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - sural nerve
- gastrocnemius muscle
- tibialis anterior muscle
- endothelial cell
- right frontal lobe
- secondary oocyte
- apex of heart
- prefrontal cortex
- muscle of thigh
- Brodmann area 9
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| Top expressed in | - muscle of thigh
- spermatid
- spermatocyte
- morula
- epiblast
- ventricular zone
- seminiferous tubule
- zygote
- embryo
- somite
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| More reference expression data |
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BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/8/8d/PBB_GE_ABCF2_209247_s_at_fs.png/250px-PBB_GE_ABCF2_209247_s_at_fs.png)
![](//upload.wikimedia.org/wikipedia/commons/thumb/e/ed/PBB_GE_ABCF2_207622_s_at_fs.png/250px-PBB_GE_ABCF2_207622_s_at_fs.png)
![](//upload.wikimedia.org/wikipedia/commons/thumb/8/8e/PBB_GE_ABCF2_207623_at_fs.png/250px-PBB_GE_ABCF2_207623_at_fs.png) | More reference expression data |
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Gene ontology |
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Molecular function | - nucleotide binding
- ATPase activity
- ATP binding
- transporter activity
| Cellular component | - ATP-binding cassette (ABC) transporter complex
- mitochondrial envelope
- membrane
- mitochondrion
| Biological process | | Sources:Amigo / QuickGO |
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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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NM_001190443 NM_013853 NM_001359205 |
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RefSeq (protein) | | |
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NP_001177372 NP_038881 NP_001346134 |
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Location (UCSC) | Chr 7: 151.21 – 151.23 Mb | Chr 5: 24.77 – 24.78 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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ATP-binding cassette sub-family F member 2 is a protein that in humans is encoded by the ABCF2 gene.[5][6]
Function
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This protein is a member of the GCN20 subfamily. Alternative splicing of this gene results in multiple transcript variants.[6]
ABCF2 acts as a suppressor of the volume-sensitive outwardly rectifying Cl channel (CLCN3).[7]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000033050 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028953 – 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.
- ^ Allikmets R, Gerrard B, Hutchinson A, Dean M (October 1996). "Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database". Human Molecular Genetics. 5 (10): 1649–55. doi:10.1093/hmg/5.10.1649. PMID 8894702.
- ^ a b "Entrez Gene: ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2".
- ^ Ando-Akatsuka Y, Shimizu T, Numata T, Okada Y (2012). "Involvements of the ABC protein ABCF2 and α-actinin-4 in regulation of cell volume and anion channels in human epithelial cells". Journal of Cellular Physiology. 227 (10): 3498–510. doi:10.1002/jcp.24050. PMID 22252987. S2CID 22139132.
Further reading
- Klein I, Sarkadi B, Váradi A (December 1999). "An inventory of the human ABC proteins". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1461 (2): 237–62. doi:10.1016/s0005-2736(99)00161-3. PMID 10581359.
- Dean M, Rzhetsky A, Allikmets R (July 2001). "The human ATP-binding cassette (ABC) transporter superfamily". Genome Research. 11 (7): 1156–66. doi:10.1101/gr.184901. PMID 11435397. S2CID 9528197.
- Hogue DL, Liu L, Ling V (January 1999). "Identification and characterization of a mammalian mitochondrial ATP-binding cassette membrane protein". Journal of Molecular Biology. 285 (1): 379–89. doi:10.1006/jmbi.1998.2259. PMID 9878413.
- Zhang F, Hogue DL, Liu L, Fisher CL, Hui D, Childs S, Ling V (July 2000). "M-ABC2, a new human mitochondrial ATP-binding cassette membrane protein". FEBS Letters. 478 (1–2): 89–94. doi:10.1016/S0014-5793(00)01823-8. PMID 10922475. S2CID 41556343.
- Ye Z, Connor JR (August 2000). "cDNA cloning by amplification of circularized first strand cDNAs reveals non-IRE-regulated iron-responsive mRNAs". Biochemical and Biophysical Research Communications. 275 (1): 223–7. doi:10.1006/bbrc.2000.3282. PMID 10944468.
- Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, Zimbello R, Lanfranchi G, Valle G (January 2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences". Yeast. 18 (1): 69–80. doi:10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H. PMID 11124703. S2CID 21397515.
- Tsuda H, Ito YM, Ohashi Y, Wong KK, Hashiguchi Y, Welch WR, Berkowitz RS, Birrer MJ, Mok SC (October 2005). "Identification of overexpression and amplification of ABCF2 in clear cell ovarian adenocarcinomas by cDNA microarray analyses". Clinical Cancer Research. 11 (19 Pt 1): 6880–8. doi:10.1158/1078-0432.CCR-05-0751. PMID 16203778. S2CID 27248404.
- Nishimura S, Tsuda H, Ito K, Jobo T, Yaegashi N, Inoue T, Sudo T, Berkowitz RS, Mok SC (January 2007). "Differential expression of ABCF2 protein among different histologic types of epithelial ovarian cancer and in clear cell adenocarcinomas of different organs". Human Pathology. 38 (1): 134–9. doi:10.1016/j.humpath.2006.06.026. PMID 16996567.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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see also ABC transporter disorders |
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