Scientific Name: Homo sapiens
Taxonomy: Cellular organisms-> Eukaryota-> Opisthokonta-> Metazoa-> Eumetazoa-> Bilateria-> Deuterostomia-> Chordata-> Craniata-> Vertebrata-> Gnathostomata-> Teleostomi-> Euteleostomi-> Sarcopterygii-> Dipnotetrapodomorpha-> Tetrapoda-> Amniota-> Mammalia-> Theria-> Eutheria-> Boreoeutheria-> Euarchontoglires-> Primates-> Haplorrhini-> Simiiformes-> Catarrhini-> Hominoidea-> Hominidae-> Homininae-> Homo
Summary: The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] [NCBI] [Proteinatlas]
Data set information
Project | Date | Technology | Tissue | Condition | Cell | PMID/DOI |
---|---|---|---|---|---|---|
Vthunter_100013 | 2020.03 | Microwell-seq | Adult AdrenalGland | Normal | 8114 | Link |
Vthunter_100014 | 2020.03 | Microwell-seq | Adult AdrenalGland | Normal | 15083 | Link |
Vthunter_100015 | 2020.03 | Microwell-seq | Adult Artery | Normal | 9652 | Link |
Vthunter_100016 | 2020.03 | Microwell-seq | Adult AscendingColon | Normal | 2026 | Link |
Vthunter_100017 | 2020.03 | Microwell-seq | Adult Bladder | Normal | 1267 | Link |
Vthunter_100018 | 2020.03 | Microwell-seq | Adult Bladder | Normal | 2750 | Link |
Vthunter_100019 | 2020.03 | Microwell-seq | Adult BoneMarrow | Normal | 2261 | Link |
Vthunter_100020 | 2020.03 | Microwell-seq | Adult BoneMarrow | Normal | 6443 | Link |
Vthunter_100021 | 2020.03 | Microwell-seq | Adult Cerebellum | Normal | 7324 | Link |
Vthunter_100022 | 2020.03 | Microwell-seq | Adult Cervix | Normal | 8096 | Link |
Vthunter_100023 | 2020.03 | Microwell-seq | Adult Colon | Normal | 5765 | Link |
Vthunter_100024 | 2020.03 | Microwell-seq | Adult Duodenum | Normal | 4681 | Link |
Vthunter_100025 | 2020.03 | Microwell-seq | Adult Epityphlon | Normal | 4486 | Link |
Vthunter_100026 | 2020.03 | Microwell-seq | Adult Esophagus | Normal | 2696 | Link |
Vthunter_100027 | 2020.03 | Microwell-seq | Adult Esophagus | Normal | 8668 | Link |
Vthunter_100028 | 2020.03 | Microwell-seq | Adult Fallopiantube | Normal | 6556 | Link |
Vthunter_100029 | 2020.03 | Microwell-seq | Adult Gallbladder | Normal | 9769 | Link |
Vthunter_100030 | 2020.03 | Microwell-seq | Adult Gallbladder | Normal | 5031 | Link |
Vthunter_100031 | 2020.03 | Microwell-seq | Adult Heart | Normal | 1308 | Link |
Vthunter_100032 | 2020.03 | Microwell-seq | Adult Heart | Normal | 1478 | Link |
Vthunter_100033 | 2020.03 | Microwell-seq | Adult Ileum | Normal | 3367 | Link |
Vthunter_100034 | 2020.03 | Microwell-seq | Adult Jejunum | Normal | 5549 | Link |
Vthunter_100035 | 2020.03 | Microwell-seq | Adult Kidney | Normal | 9153 | Link |
Vthunter_100036 | 2020.03 | Microwell-seq | Adult Kidney | Normal | 9966 | Link |
Vthunter_100037 | 2020.03 | Microwell-seq | Adult Kidney | Normal | 3849 | Link |
Vthunter_100038 | 2020.03 | Microwell-seq | Adult Liver | Normal | 1811 | Link |
Vthunter_100039 | 2020.03 | Microwell-seq | Adult Liver | Normal | 4377 | Link |
Vthunter_100040 | 2020.03 | Microwell-seq | Adult Liver | Normal | 4384 | Link |
Vthunter_100041 | 2020.03 | Microwell-seq | Adult Lung | Normal | 8426 | Link |
Vthunter_100042 | 2020.03 | Microwell-seq | Adult Lung | Normal | 6022 | Link |
Vthunter_100043 | 2020.03 | Microwell-seq | Adult Lung | Normal | 9603 | Link |
Vthunter_100044 | 2020.03 | Microwell-seq | Adult Muscle | Normal | 7775 | Link |
Vthunter_100045 | 2020.03 | Microwell-seq | Adult Omentum | Normal | 1487 | Link |
Vthunter_100046 | 2020.03 | Microwell-seq | Adult Omentum | Normal | 9971 | Link |
Vthunter_100047 | 2020.03 | Microwell-seq | Adult Omentum | Normal | 1354 | Link |
Vthunter_100048 | 2020.03 | Microwell-seq | Adult Pancreas | Normal | 9727 | Link |
Vthunter_100049 | 2020.03 | Microwell-seq | Adult PeripheralBlood | Normal | 2719 | Link |
Vthunter_100050 | 2020.03 | Microwell-seq | Adult PeripheralBlood | Normal | 5296 | Link |
Vthunter_100051 | 2020.03 | Microwell-seq | Adult PeripheralBlood | Normal | 2156 | Link |
Vthunter_100052 | 2020.03 | Microwell-seq | Adult PeripheralBlood | Normal | 7160 | Link |
Vthunter_100053 | 2020.03 | Microwell-seq | Adult Pleura | Normal | 19695 | Link |
Vthunter_100054 | 2020.03 | Microwell-seq | Adult Prostate | Normal | 2445 | Link |
Vthunter_100055 | 2020.03 | Microwell-seq | Adult Rectum | Normal | 5718 | Link |
Vthunter_100056 | 2020.03 | Microwell-seq | Adult SigmoidColon | Normal | 3281 | Link |
Vthunter_100057 | 2020.03 | Microwell-seq | Adult Spleen | Normal | 15806 | Link |
Vthunter_100058 | 2020.03 | Microwell-seq | Adult Stomach | Normal | 1879 | Link |
Vthunter_100059 | 2020.03 | Microwell-seq | Adult Stomach | Normal | 4669 | Link |
Vthunter_100060 | 2020.03 | Microwell-seq | Adult Stomach | Normal | 8005 | Link |
Vthunter_100061 | 2020.03 | Microwell-seq | Adult TemporalLobe | Normal | 9544 | Link |
Vthunter_100062 | 2020.03 | Microwell-seq | Adult Thyroid | Normal | 6319 | Link |
Vthunter_100063 | 2020.03 | Microwell-seq | Adult Thyroid | Normal | 6328 | Link |
Vthunter_100064 | 2020.03 | Microwell-seq | Adult Trachea | Normal | 9949 | Link |
Vthunter_100065 | 2020.03 | Microwell-seq | Adult TransverseColon | Normal | 11229 | Link |
Vthunter_100066 | 2020.03 | Microwell-seq | Adult Ureter | Normal | 2390 | Link |
Vthunter_100067 | 2020.03 | Microwell-seq | Adult Uterus | Normal | 7694 | Link |
Vthunter_100068 | 2020.03 | Microwell-seq | ChorionicVillus | Normal | 9898 | Link |
Vthunter_100069 | 2020.03 | Microwell-seq | CordBlood | Normal | 2150 | Link |
Vthunter_100070 | 2020.03 | Microwell-seq | CordBlood | Normal | 4444 | Link |
Vthunter_100071 | 2020.03 | Microwell-seq | CordBloodCD34P1 | Normal | 5607 | Link |
Vthunter_100072 | 2020.03 | Microwell-seq | CordBloodCD34P2 | Normal | 11297 | Link |
Vthunter_100073 | 2020.03 | Microwell-seq | Fetal AdrenalGland | Normal | 9875 | Link |
Vthunter_100074 | 2020.03 | Microwell-seq | Fetal AdrenalGland | Normal | 2547 | Link |
Vthunter_100075 | 2020.03 | Microwell-seq | Fetal AdrenalGland | Normal | 1994 | Link |
Vthunter_100076 | 2020.03 | Microwell-seq | Fetal Brain | Normal | 2904 | Link |
Vthunter_100077 | 2020.03 | Microwell-seq | Fetal Brain | Normal | 3920 | Link |
Vthunter_100078 | 2020.03 | Microwell-seq | Fetal Brain | Normal | 5096 | Link |
Vthunter_100079 | 2020.03 | Microwell-seq | Fetal Brain | Normal | 1705 | Link |
Vthunter_100080 | 2020.03 | Microwell-seq | Fetal Calvaria | Normal | 5129 | Link |
Vthunter_100081 | 2020.03 | Microwell-seq | Fetal Eyes | Normal | 1880 | Link |
Vthunter_100082 | 2020.03 | Microwell-seq | Fetal FemaleGonad | Normal | 2710 | Link |
Vthunter_100083 | 2020.03 | Microwell-seq | Fetal FemaleGonad | Normal | 4231 | Link |
Vthunter_100084 | 2020.03 | Microwell-seq | Fetal Heart | Normal | 5319 | Link |
Vthunter_100085 | 2020.03 | Microwell-seq | Fetal Heart | Normal | 2678 | Link |
Vthunter_100086 | 2020.03 | Microwell-seq | Fetal Intestine | Normal | 1448 | Link |
Vthunter_100087 | 2020.03 | Microwell-seq | Fetal Intestine | Normal | 1338 | Link |
Vthunter_100088 | 2020.03 | Microwell-seq | Fetal Intestine | Normal | 9740 | Link |
Vthunter_100089 | 2020.03 | Microwell-seq | Fetal Intestine | Normal | 6931 | Link |
Vthunter_100090 | 2020.03 | Microwell-seq | Fetal Intestine | Normal | 4059 | Link |
Vthunter_100091 | 2020.03 | Microwell-seq | Fetal Kidney | Normal | 4939 | Link |
Vthunter_100092 | 2020.03 | Microwell-seq | Fetal Kidney | Normal | 4734 | Link |
Vthunter_100093 | 2020.03 | Microwell-seq | Fetal Kidney | Normal | 9932 | Link |
Vthunter_100094 | 2020.03 | Microwell-seq | Fetal Kidney | Normal | 3057 | Link |
Vthunter_100095 | 2020.03 | Microwell-seq | Fetal Liver | Normal | 17929 | Link |
Vthunter_100096 | 2020.03 | Microwell-seq | Fetal Lung | Normal | 4526 | Link |
Vthunter_100097 | 2020.03 | Microwell-seq | Fetal Lung | Normal | 5121 | Link |
Vthunter_100098 | 2020.03 | Microwell-seq | Fetal MaleGonad | Normal | 3358 | Link |
Vthunter_100099 | 2020.03 | Microwell-seq | Fetal MaleGonad | Normal | 9853 | Link |
Vthunter_100100 | 2020.03 | Microwell-seq | Fetal Muscle | Normal | 18345 | Link |
Vthunter_100101 | 2020.03 | Microwell-seq | Fetal Pancreas | Normal | 8977 | Link |
Vthunter_100102 | 2020.03 | Microwell-seq | Fetal Pancreas | Normal | 6939 | Link |
Vthunter_100103 | 2020.03 | Microwell-seq | Fetal Pancreas | Normal | 2830 | Link |
Vthunter_100104 | 2020.03 | Microwell-seq | Fetal Rib | Normal | 1432 | Link |
Vthunter_100105 | 2020.03 | Microwell-seq | Fetal Rib | Normal | 4560 | Link |
Vthunter_100106 | 2020.03 | Microwell-seq | Fetal Skin | Normal | 5294 | Link |
Vthunter_100107 | 2020.03 | Microwell-seq | Fetal Skin | Normal | 1697 | Link |
Vthunter_100108 | 2020.03 | Microwell-seq | Fetal SpinalCord | Normal | 5916 | Link |
Vthunter_100109 | 2020.03 | Microwell-seq | Fetal Stomach | Normal | 1322 | Link |
Vthunter_100110 | 2020.03 | Microwell-seq | Fetal Stomach | Normal | 6631 | Link |
Vthunter_100111 | 2020.03 | Microwell-seq | Fetal Thymus | Normal | 2448 | Link |
Vthunter_100112 | 2020.03 | Microwell-seq | Fetal Thymus | Normal | 2068 | Link |
Vthunter_100113 | 2020.03 | Microwell-seq | hESC | Normal | 1660 | Link |
Vthunter_100114 | 2020.03 | Microwell-seq | NeonatalAdrenalGland | Normal | 5863 | Link |
Vthunter_100115 | 2020.03 | Microwell-seq | Placenta | Normal | 9595 | Link |
Vthunter_110062 | 2020.07 | 10X Genomics | Lung | Normal | 31644 | Link |
Vthunter_110063 | 2019.12 | 10X Genomics | Blood | Normal | 94257 | Link |
Vthunter_110063 | 2019.12 | 10X Genomics | Blood | Normal | 94257 | Link |
Vthunter_110065 | 2019.12 | MARS-seq | BrainCortex | Normal | 2304 | Link |
Vthunter_110077 | 2020.01 | 10X Genomics | Spleen | Normal | 94257 | Link |
Vthunter_110078 | 2018.12 | 10X Genomics | Placenta | Normal | 16075 | Link |
Vthunter_110079 | 2018.09 | 10X Genomics | Liver | Normal | 8444 | Link |
Vthunter_110080 | 2020.05 | 10X Genomics | Lung | Disease | 57299 | Link |
Vthunter_110088 | 2018.12 | 10X Genomics | Decidua | Normal | 34072 | Link |
Vthunter_110089 | 2018.12 | 10X Genomics | Blood | Normal | 9558 | Link |
Vthunter_110093 | 2019.05 | 10X Genomics | AnteriorCingulateCortex | Normal | 22409 | Link |
Vthunter_110094 | 2019.05 | 10X Genomics | PrefrontalCortex | Normal | 30147 | Link |
Vthunter_110100 | 2020.09 | 10X Genomics | Teeth | Teeth | 41673 | Link |
Vthunter_110102 | 2018.08 | 10X Genomics | Testis | Testis | 6199 | Link |
Vthunter_110103 | 2019.05 | 10X Genomics | FoveaRetina | FoveaRetina | 2811 | Link |
Vthunter_110104 | 2020.09 | 10X Genomics | Endometrium | Endometrium | 71032 | Link |
Vthunter_110108 | 2021.04 | 10X Genomics | Cornea | Cornea | 21343 | Link |
Vthunter_110109 | 2019.05 | 10X Genomics | FoveaRetina | FoveaRetina | 767 | Link |
Vthunter_110110 | 2019.05 | 10X Genomics | PeripheralRetina | PeripheralRetina | 2924 | Link |
Vthunter_110111 | 2019.05 | 10X Genomics | PeripheralRetina | PeripheralRetina | 1715 | Link |
Featureplot of receptors
Expression: Ubiquitous expression in brain (RPKM 74.6), prostate (RPKM 71.6) and 25 other tissues