RMRP(RNA component of mitochondrial RNA processing endoribonuclease)

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

更多...

基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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9p13.3
基因染色体位置图

This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]

[中文简述(自动翻译):]  这个基因编码的线粒体RNA加工内切核糖核酸酶的RNA组分,其裂解线粒体RNA在线粒体DNA复制的引发位点。该RNA也与端粒酶相互作用逆转录酶催化亚基以形成具有RNA依赖性RNA聚合酶活性,并产生可以被加工成小干扰RNA双链RNA鲜明核糖核蛋白复合物。在这个基因的突变与软骨毛发发育不全有关。[由RefSeq的,2010年3月提供]

RMRP基因的碱基序列:[NCBI]
RMRP基因的碱基突变:           显示全部snp
rs1890593       rs3750430       rs3829076       rs3829077       rs7021463       rs7021642       rs7024732       rs7029668       rs10441724       rs10441725       rs10441726       rs10972553       rs12115438       rs12551232       rs12552387       rs45622432       rs61740130       rs71521283       rs74810894       rs111433538       rs111909453       rs112804667       rs113382889       rs113967059       rs138660393       rs139482335       rs140495567       rs140994190       rs141693940       rs144459737       rs145463993       rs145720742       rs149105942       rs150183436       rs151011853       rs182490154       rs182717768      
rs184259540       rs185161754       rs186043318       rs186817426       rs187324737       rs188190570       rs188660894       rs188907984       rs189818050       rs190068530       rs190524896       rs192060920       rs193117694       rs199476103       rs199739257       rs200553802       rs201276307       rs367649531       rs367843919       rs370797103       rs372044910       rs372183653       rs373639567       rs377349293       rs377566038       rs527750654       rs528442230       rs528894722       rs528920111       rs529328233       rs529852688       rs530627656       rs530883024       rs530945104       rs531089786       rs532746582       rs533294975       rs534955648       rs535022008       rs535595484       rs536333075       rs536842279       rs537096111       rs539616894       rs539893970       rs542778133       rs543178174       rs544069410       rs544140481       rs544586788       rs545020206       rs545284014       rs545511916       rs546371252       rs547341757       rs547766862       rs548292581       rs549047941       rs549085067       rs549256667       rs550203343       rs550946879       rs551474332       rs551655682       rs552002151       rs552268253       rs553528072       rs553651882       rs553665569       rs554189938       rs554855145       rs554972846       rs555390900       rs555890962       rs557578605       rs557906740       rs558248898       rs559955571       rs560328768       rs561133761       rs561565130       rs563106486       rs563265372       rs565037825       rs565056797       rs565106593       rs565383075       rs565700776       rs566927925       rs567100944       rs567665484       rs568717169       rs568929247       rs569993924       rs570362765       rs571495691       rs572081363       rs572399988       rs572830134       rs572893111       rs572985238       rs573644542       rs574899778       rs575220327       rs575676629       rs575696724       rs577887842       rs578091934       rs578123788       rs727502778       rs745372450       rs745944884       rs745962544       rs746248517       rs746705999       rs746795915       rs747957618       rs747958939       rs748268184       rs748814304       rs748911449       rs748999084       rs749134589       rs749361065       rs749667892       rs749936196       rs750141239       rs750489731       rs751373603       rs751911639       rs752709977       rs752723025       rs752934195       rs753255033       rs753673358       rs753874439       rs753909313       rs754608606       rs754810221       rs755907294       rs756128568       rs756285919       rs756579859       rs757130409       rs757576534       rs757902252       rs757912144       rs758130879       rs758862328       rs759665242       rs759715665       rs761004178       rs761398394       rs762952175       rs763426582       rs764657365       rs765258340       rs765406308       rs765841656       rs765937452       rs766178173       rs766622787       rs767270341       rs767355005       rs767823602       rs768594644       rs768610798       rs768701060       rs769080777       rs769169620       rs769331218       rs769647487       rs769709863       rs769786631       rs769854200       rs770935195       rs770967382       rs771464779       rs771696725       rs771699282       rs772268832       rs772443941       rs772664375       rs772665785       rs772825736       rs773093613       rs773229007       rs773272713       rs773388104       rs773520232       rs774079455       rs774349560       rs774439649       rs774600366       rs775067778       rs775287390       rs775290179       rs775757688       rs775774295       rs776686321       rs777394890       rs778202312       rs778879687       rs778909580       rs779661549       rs779725278       rs780233441       rs780392182       rs780414839       rs781000881       rs781079047       rs781090769       rs781730798       rs768417511       rs752934195      

RMRP基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图

RMRP基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

RMRP基因的本位(GO)信息:

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

可能调控RMRP基因的相关microRNA:     


通路基因列表
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Cartilage-hair hypoplasia 0.37302921 48 8 BeFree_CLINVAR_CTD_human_ORPHANET
Anauxetic dysplasia 0.360814326 3 1 BeFree_CLINVAR_CTD_human_ORPHANET
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 0.240271442 1 2 BeFree_CLINVAR_CTD_human
Omenn Syndrome 0.12 0 0 ORPHANET
Neoplasm Metastasis 0.004614512 17 0 BeFree
Dwarfism 0.003800186 14 0 BeFree
Aplastic Anemia 0.00272435 1 0 LHGDN
Metaphyseal chondrodysplasia 0.002714419 10 0 BeFree
Skeletal dysplasia 0.001357209 5 0 BeFree
Secondary malignant neoplasm of lymph node 0.001357209 5 0 BeFree
Malignant neoplasm of breast 0.001085767 4 0 BeFree
Ovarian Carcinoma 0.001085767 4 0 BeFree
Pyle metaphyseal dysplasia 0.001085767 4 0 BeFree
Chondrodysplasia 0.001085767 4 0 BeFree
Breast Carcinoma 0.001085767 4 0 BeFree
Malignant neoplasm of ovary 0.000814326 3 0 BeFree
Non-Small Cell Lung Carcinoma 0.000542884 2 0 BeFree
Endometriosis 0.000542884 2 0 BeFree
Failure to Thrive 0.000542884 2 0 BeFree
melanoma 0.000542884 2 0 BeFree
Mucopolysaccharidosis IV 0.000542884 2 0 BeFree
Osteochondrodysplasias 0.000542884 2 0 BeFree
Severe Combined Immunodeficiency 0.000542884 2 0 BeFree
Anemia, severe 0.000542884 2 0 BeFree
Dyskeratosis Congenita 0.000542884 2 0 BeFree
Malonic aciduria 0.000542884 2 0 BeFree
growth hormone treatment 0.000542884 2 0 BeFree
Growth failure 0.000542884 2 0 BeFree
Macular dystrophy, corneal type 1 0.000542884 2 0 BeFree
Bone Marrow failure syndromes 0.000542884 2 0 BeFree
Bronchiectasis 0.000271442 1 0 BeFree
Squamous cell carcinoma 0.000271442 1 0 BeFree
Diarrhea 0.000271442 1 0 BeFree
Hydrocephalus 0.000271442 1 0 BeFree
Hypercalciuria 0.000271442 1 0 BeFree
Leukemia, Myelocytic, Acute 0.000271442 1 0 BeFree
Malignant neoplasm of stomach 0.000271442 1 0 BeFree
Virus Diseases 0.000271442 1 0 BeFree
Tumor Progression 0.000271442 1 0 BeFree
Follicular thyroid carcinoma 0.000271442 1 0 BeFree
Malignant neoplasm of lung 0.000271442 1 0 BeFree
Disorder of skeletal system 0.000271442 1 0 BeFree
Metaphyseal chondrodysplasia Schmid type 0.000271442 1 0 BeFree
Shwachman syndrome 0.000271442 1 0 BeFree
Congenital stenosis 0.000271442 1 0 BeFree
Congenital neutropenia 0.000271442 1 0 BeFree
Multiple malignancy 0.000271442 1 0 BeFree
Epiphyseal dysplasia 0.000271442 1 0 BeFree
Thyroid carcinoma 0.000271442 1 0 BeFree
Epithelial ovarian cancer 0.000271442 1 0 BeFree
Carcinoma of lung 0.000271442 1 0 BeFree
Stomach Carcinoma 0.000271442 1 0 BeFree
early pregnancy 0.000271442 1 0 BeFree
ovarian neoplasm 0.000271442 1 0 BeFree
Invasive Ductal Breast Carcinoma 0.000271442 1 0 BeFree
T-lymphocyte immunodeficiency 0.000271442 1 0 BeFree
Severe congenital neutropenia 0.000271442 1 0 BeFree
Cytogenetically normal acute myeloid leukemia 0.000271442 1 0 BeFree
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