PHKA2基因详情-基因数据库-基因云馆

PHKA2(phosphorylase kinase, alpha 2 (liver))

基因简称(symbol)

PHKA2 [HGNC] [GeneCards] [NCBI]

基因种类(locus group)

protein-coding gene

同源简称(alias symbol)

基因家族代码(gene_family_id)

[HGNC] [GenScript]

omim代码

300798

entrez码

5256 [Vega]

vega基因码

OTTHUMG00000021222

ensembl基因码

ENSG00000044446 [Ensembl]

基因家族(gene family)

refseq数据库代号

NM_000292

更多...

基因种类(locus_type)

gene with protein product

基因名称状态(status)

Approved

location_sortable

Xp22.2-p22.1

同源基因名称(alias name)

基因名称批准使用时间(date_approved_reserved)

1991-05-09T00:00:00Z

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)

2014-11-19T00:00:00Z

ucsc码

uc004cyv.4

ena

ccds数据码

CCDS14190

uniprot数据码

P46019

pubmed代码

2387090

mgd码

MGI:97577

rgd码

RGD:1596945

生命科学数据库(lsdb)

Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PHKA2

更新时间(date modified)

2014-11-19T00:00:00Z

cosmic

PHKA2

mirbase

基因曾用简称(prev symbol)

PHK|PYK

基因曾用名称(prev name)

homeodb

cosmic

PHKA2

snornabase

bioparadigms slc

orphanet

117793

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

2.7.11.19

中间纤维数据库

收起

Xp22.2-p22.1

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

[中文简述(自动翻译):] 磷酸化酶激酶为16亚基，四α，β，γ和δ的各聚合物。 α亚基包括骨骼肌和肝脏同种型，和肝同种型由该基因编码。 β亚基是在肌肉和肝同种型都是相同的，并且由一个基因编码。伽马亚基还包括骨骼肌和肝脏同种型，它们由两个不同的基因编码。增量亚基是钙调蛋白，??并且可以通过三种不同的基因编码。伽马亚基含有酶的活性位点，而α和β亚基具有通过磷酸化来控制调节功能。增量亚基介导钙浓度酶的依赖。突变该基因引起型糖原贮积病9A，也称为X-连锁的肝脏糖原分解。可变剪接转录物变体已有报道，但这些变体的全长性质尚未确定。[通过的RefSeq，2010年2月提供]

OMIM数据库中对PHKA2基因的介绍 Wikipedia数据库中对PHKA2基因的介绍

PHKA2基因的碱基序列：[NCBI]

PHKA2基因的碱基突变：显示全部snp

rs869225571 rs781745294 rs781781298 rs781722400 rs781698614 rs781641570 rs781637226 rs781567272 rs781568945 rs781555017 rs781530947 rs781539015 rs781410183 rs781426125 rs781518775 rs781521941 rs781276478 rs781299391 rs781331094 rs781358980 rs781273306 rs781134758 rs781149626 rs781158553 rs781212746 rs781228964 rs781121481 rs781128044 rs781027949 rs781045480 rs781054504 rs781069071 rs781072498 rs781074982 rs780955571 rs780965634 rs780902293

rs780794502 rs780823207 rs780851975 rs780890902 rs780786223 rs780680755 rs780767500 rs780778957 rs780602431 rs780635001 rs780650294 rs780667195 rs780679660 rs780594003 rs780492805 rs780568726 rs780484067 rs780419554 rs780457573 rs780473045 rs780409205 rs780409648 rs780382742 rs780390311 rs780377178 rs780296845 rs780303892 rs780316518 rs780287432 rs780274095 rs780278183 rs780160526 rs780173388 rs780229429 rs780155143 rs780060579 rs780075235 rs780117913 rs780151557 rs780051175 rs780028647 rs780035638 rs780019881 rs780021837 rs779980134 rs779983723 rs779929996 rs779931923 rs779938800 rs779813214 rs779873165 rs779898678 rs779919329 rs779928419 rs779752436 rs779811760 rs779644295 rs779650652 rs779660127 rs779702395 rs779713495 rs779742867 rs779616275 rs779564194 rs779602436 rs779539504 rs779546770 rs779550956 rs779558437 rs779514387 rs779536151 rs779453589 rs779456044 rs779468779 rs779486872 rs779401435 rs779334902 rs779359340 rs779163512 rs779176968 rs779269914 rs779277905 rs779157238 rs779087159 rs779113905 rs779069246 rs779074462 rs779079136 rs779082679 rs778880305 rs778882246 rs778966577 rs778969101 rs779052932 rs778746136 rs778790698 rs778802498 rs778709304 rs778699726 rs778658052 rs778674903 rs778695681 rs778593284 rs778626550 rs778565097 rs778567228 rs778564232 rs778505476 rs778514148 rs778479656 rs778481942 rs778501831 rs778460479 rs778451437 rs778313153 rs778333877 rs778377421 rs778415418 rs778307231 rs778289768 rs778243001 rs778254722 rs778264543 rs778273882 rs778194368 rs778213861 rs778089696 rs778113808 rs778123561 rs778051353 rs777954723 rs777999140 rs778014625 rs778016687 rs777938155 rs777948904 rs777915118 rs777922978 rs777817383 rs777741653 rs777767653 rs777665029 rs777714067 rs777622033 rs777635235 rs777643744 rs777520619 rs777543851 rs777579964 rs777332060 rs777374912 rs777520030 rs777313781 rs777309344 rs777309107 rs777248338 rs777255155 rs777278113 rs777289643 rs777177065 rs777137574 rs777145421 rs777148320 rs777165212 rs777119197 rs777121579 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rs763665571 rs763597818 rs763627515 rs763582994 rs763525899 rs763573737 rs763504770 rs763454739 rs763456029 rs763453654 rs763429165 rs763411011 rs763346170 rs763296546 rs763341186 rs763213020 rs763158199 rs763184048 rs763211217 rs763145878 rs763095964 rs763125689 rs763059290 rs763034061 rs763017258 rs762974223 rs762971394 rs762959778 rs762907331 rs762945500 rs762832828 rs762894934 rs762807525 rs762792091 rs762801140 rs762722838 rs762700787 rs762716729 rs762673511 rs762621458 rs762618410 rs762532527 rs762576864 rs762503778 rs762508238 rs762486192 rs762430956 rs762430893 rs762376783 rs762342914 rs762307036 rs762299240 rs762305413 rs762235929 rs762222401 rs762219077 rs762209192 rs762218647 rs762204271 rs762196190 rs762165317 rs762146688 rs762117577 rs762079064 rs762061552 rs762057460 rs762021138 rs762019728 rs761967931 rs761931028 rs761966484 rs761875533 rs761898637 rs761861788 rs761787744 rs761746626 rs761751602 rs761684724 rs761745132 rs761628897 rs761589396 rs761570683 rs761474527 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rs763918073 rs763710083 rs763656682 rs763355495 rs763351065 rs763293353 rs763111073 rs762504306 rs762362098 rs761905977 rs761599933 rs761515547 rs761177240 rs760820112 rs760588951 rs759510732 rs759508576 rs759346868 rs759139016 rs758231716 rs758018659 rs758012915 rs757758365 rs757984916 rs757202559 rs757147423 rs756634525 rs756400401 rs756250978 rs755233976 rs755187837 rs755151931 rs755146632 rs754540088 rs754481107 rs754254758 rs754449318 rs754184038 rs753828941 rs753760181 rs753383892 rs752868728 rs752371084 rs751796825 rs751355185 rs751261167 rs751166988 rs751062951 rs750694185 rs750634059 rs750498601 rs750232651 rs749813886 rs749097024 rs749062601 rs749043832 rs748716091 rs748453047 rs748196916 rs748119616 rs748082286 rs748052446 rs747924699 rs747163072 rs747077187 rs746926967 rs746514665 rs746513124 rs746199292 rs746090276 rs745667880 rs745392510 rs559164945 rs543162549 rs377630574 rs377355086 rs377002507 rs376969434 rs376602692 rs376158015 rs374881210 rs374444913 rs374849324 rs374443475 rs374245493 rs374048049 rs373407231 rs372809982 rs372415141 rs371835709 rs371654294 rs371619597 rs371554551 rs370595311 rs369632240 rs369406715 rs368335914 rs369001472 rs368131175 rs202246833 rs202049814 rs201884669 rs201847825 rs201620564 rs201221654 rs200550207 rs200336179 rs200164738 rs200054284 rs199840021 rs192747730 rs192144428 rs191563795 rs191137015 rs191053225 rs189639065 rs189193724 rs187820216 rs187652466 rs186498031 rs186346402 rs185981642 rs183528217 rs183312815 rs183285231 rs181609896 rs181576925 rs180712292 rs150445034 rs149632860 rs149157649 rs148627941 rs147641162 rs146387045 rs146146284 rs145952475 rs145916909 rs145313253 rs145249891 rs143956240 rs143350526 rs142339696 rs142212861 rs142176794 rs141588752 rs140662866 rs139033266 rs138280296 rs137907969 rs113162647 rs112781616 rs112249974 rs111551707 rs77481942 rs74651426 rs72616071 rs61731574 rs56141038 rs11094760 rs6653642 rs781179186 rs780833729 rs779626363 rs779067669 rs778420833 rs778309583 rs778046673 rs777401936 rs775812095 rs776525115 rs775647867 rs775316637 rs775198397 rs773201740 rs772545783 rs771991394 rs771199506 rs771770286 rs771111943 rs771049664 rs770031577 rs769266127 rs768574339 rs767901792 rs767667345 rs766858204 rs766671419 rs765802132 rs765435245 rs765349624 rs764379117 rs764306566 rs763415077 rs762670984 rs762225154 rs761969473 rs761502207 rs761085786 rs761013464 rs760059134 rs759972973 rs758895489 rs758333399 rs757929891 rs756864815 rs756776684 rs755807840 rs754038277 rs753496583 rs753013642 rs751926507 rs751577730 rs751088875 rs750895745 rs750129454 rs750093257 rs750035546 rs749416986 rs748857318 rs747988356 rs748402255 rs746814771 rs745362070 rs571981680 rs553694935 rs374817456 rs375773705 rs369826720 rs368881273 rs202065000 rs201080940 rs200186305 rs192175080 rs190367972 rs189695765 rs188691595 rs188111746 rs186848251 rs185526184 rs185086614 rs184189077 rs183839141 rs182089201 rs181625067 rs181053971 rs148466657 rs147224125 rs144495498 rs144220206 rs140572177 rs140014925 rs112918446 rs111996032 rs78130129 rs16980956 rs3747315

PHKA2基因在不同组织中的表达： [UniProt]

正向引物序列

正向引物Tm值

反向引物序列

反向引物Tm值

rank

TATATGCCAAGCTTGGACG

57

TAGAGGTTCCAAGGACACC

58

AGGACCAGGTGTCAATTGG

59

TAGGTCATCGTCCCATAAGC

59

GAGACTCCGGATTGGACTG

59

GAAGCCTCTTCTCCTGAGC

59

CCCTACCATCTCCATCCAC

59

CCTAGTCATCTGTTTCATTTCACTC

59

GAGACTCCGGATTGGACTG

59

CAGAAGCCTCTTCTCCTGAG

59

AAGATCCTCCAGAAGTGCC

59

CAAACTTGATCTCATGCGGG

59

AGGACCAGGTGTCAATTGG

59

TAGGTAGGTCATCGTCCCA

59

AAGATCCTCCAGAAGTGCC

59

AGCAAACTTGATCTCATGCG

59

CCTACCATCTCCATCCACG

59

CCTAGTCATCTGTTTCATTTCACTC

59

TATATGCCAAGCTTGGACG

57

TTTAGAGGTTCCAAGGACAC

57

尚未收录相关数据

PHKA2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

PHKA2基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0004689

P46019(UniProtKB)

IEA

GO:0005516

P46019(UniProtKB)

IEA

GO:0005829

P46019(UniProtKB)

TAS

GO:0005886

P46019(UniProtKB)

IEA

GO:0005964

P46019(UniProtKB)

IEA

GO:0005975

P46019(UniProtKB)

TAS

GO:0005980

P46019(UniProtKB)

TAS

GO:0006091

P46019(UniProtKB)

TAS

GO:0006464

P46019(UniProtKB)

TAS

GO:0006468

P46019(UniProtKB)

IEA

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PHKA2基因的相关microRNA：

hsa-miR-26b hsa-miR-149

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
GLYCOGEN STORAGE DISEASE IXa1	0.24	7	0	CTD_human_UNIPROT
Glycogen Storage Disease	0.127891677	10	0	BeFree_CTD_human_LHGDN
Glycogen Storage Disease Type VIII	0.12	0	7	CLINVAR
Glycogen Storage Disease, Type IXA2	0.12	0	6	CLINVAR
Glycogen storage disease, type IX	0.002714419	10	0	BeFree
Deficiency of phosphorylase kinase	0.000814326	3	0	BeFree
Glycogen Storage Disease Type I	0.000542884	2	0	BeFree
Spastic syndrome	0.000271442	1	0	BeFree