Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | melanoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22535842 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | melanoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22535842 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7629060 | PMID:7639683 | PMID:7852364 | PMID:8869744 | PMID:9367159 | PMID:12477932 | PMID:12509423 | PMID:12747804 | PMID:14582145 | PMID:14614850 | PMID:14614854 | PMID:14702039 |
PMID:15046600 | PMID:15164054 | PMID:15489334 | PMID:16094259 | PMID:16385451 | PMID:16801950 | PMID:16823801 | PMID:17410640 | PMID:17555944 | PMID:18314871 | PMID:18364242 | PMID:18545987 |
PMID:19328558 | PMID:19475563 | PMID:19490893 | PMID:19644675 | PMID:19656170 | PMID:19937977 | PMID:20379614 | PMID:20583997 | PMID:21041608 | PMID:21124964 | PMID:21377334 | PMID:21873635 |
PMID:21988832 | PMID:22190034 | PMID:22952844 | PMID:23251661 | PMID:23455922 | PMID:23739505 | PMID:23758345 | PMID:23996088 | PMID:24081551 | PMID:24086693 | PMID:24209622 | PMID:24366813 |
PMID:24681948 | PMID:24788727 | PMID:24981860 | PMID:25025909 | PMID:25281560 | PMID:25495341 | PMID:25544563 | PMID:25548108 | PMID:25578879 | PMID:25693804 | PMID:26186194 | PMID:26344197 |
PMID:26496610 | PMID:26774281 | PMID:26885983 | PMID:27149463 | PMID:28476190 | PMID:28514442 | PMID:29353240 | PMID:29440432 | PMID:29467282 | PMID:29518392 | PMID:29791485 | PMID:29923177 |
PMID:30463901 | PMID:30718367 | PMID:30898893 | PMID:31091439 | PMID:31109595 | PMID:31239290 | PMID:31540324 | PMID:31753913 | PMID:31822558 | PMID:31973889 | PMID:32130941 | PMID:32218783 |
PMID:32296183 | PMID:32423001 | PMID:32449185 | PMID:32707033 | PMID:32812023 | PMID:33022573 | PMID:33092542 | PMID:33187986 | PMID:33961781 | PMID:33984270 | PMID:34001596 | PMID:34079125 |
PMID:34143546 | PMID:34681036 | PMID:35256949 | PMID:35271311 | PMID:35831314 | PMID:35944360 | PMID:36215168 | PMID:36232890 | PMID:36736316 | PMID:36952466 | PMID:37827155 | PMID:38059827 |
PMID:38113892 |
PIP4K2A (Homo sapiens - human) |
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Pip4k2a (Mus musculus - house mouse) |
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Pip4k2a (Rattus norvegicus - Norway rat) |
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Pip4k2a (Chinchilla lanigera - long-tailed chinchilla) |
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PIP4K2A (Pan paniscus - bonobo/pygmy chimpanzee) |
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PIP4K2A (Canis lupus familiaris - dog) |
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Pip4k2a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PIP4K2A (Sus scrofa - pig) |
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PIP4K2A (Chlorocebus sabaeus - green monkey) |
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Pip4k2a (Heterocephalus glaber - naked mole-rat) |
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Variants in PIP4K2A
35 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 | copy number gain | See cases [RCV000053508] | Chr10:90221..22567425 [GRCh38] Chr10:224406..22856354 [GRCh37] Chr10:126161..22896360 [NCBI36] Chr10:10p15.3-12.2 |
pathogenic |
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] | Chr10:90421..29058318 [GRCh38] Chr10:224406..29347247 [GRCh37] Chr10:126361..29387253 [NCBI36] Chr10:10p15.3-12.1 |
pathogenic |
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 | copy number gain | See cases [RCV000138428] | Chr10:90205..26339978 [GRCh38] Chr10:224406..26628907 [GRCh37] Chr10:126145..26668913 [NCBI36] Chr10:10p15.3-12.1 |
pathogenic |
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 | copy number gain | See cases [RCV000139427] | Chr10:19088161..32732293 [GRCh38] Chr10:19377090..33021221 [GRCh37] Chr10:19417096..33061227 [NCBI36] Chr10:10p12.31-11.22 |
likely pathogenic |
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 | copy number gain | See cases [RCV000141497] | Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22 |
benign |
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 | copy number gain | See cases [RCV000447131] | Chr10:100026..30278548 [GRCh37] Chr10:10p15.3-11.23 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p12.31-12.2(chr10:21881989-23129991)x3 | copy number gain | See cases [RCV000511886] | Chr10:21881989..23129991 [GRCh37] Chr10:10p12.31-12.2 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 | copy number gain | See cases [RCV000510893] | Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_005028.5(PIP4K2A):c.13G>A (p.Gly5Ser) | single nucleotide variant | Inborn genetic diseases [RCV003241480] | Chr10:22714314 [GRCh38] Chr10:23003243 [GRCh37] Chr10:10p12.2 |
uncertain significance |
GRCh37/hg19 10p12.2(chr10:22770341-23162682)x1 | copy number loss | not provided [RCV000749534] | Chr10:22770341..23162682 [GRCh37] Chr10:10p12.2 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_005028.5(PIP4K2A):c.339+10G>A | single nucleotide variant | not provided [RCV000879022] | Chr10:22607917 [GRCh38] Chr10:22896846 [GRCh37] Chr10:10p12.2 |
benign |
NM_005028.5(PIP4K2A):c.1173A>G (p.Glu391=) | single nucleotide variant | not provided [RCV000959868] | Chr10:22537249 [GRCh38] Chr10:22826178 [GRCh37] Chr10:10p12.2 |
benign |
NM_005028.5(PIP4K2A):c.912C>T (p.Ser304=) | single nucleotide variant | not provided [RCV000959869] | Chr10:22541928 [GRCh38] Chr10:22830857 [GRCh37] Chr10:10p12.2 |
benign |
NM_005028.5(PIP4K2A):c.979C>A (p.Leu327Met) | single nucleotide variant | not provided [RCV000894025] | Chr10:22541861 [GRCh38] Chr10:22830790 [GRCh37] Chr10:10p12.2 |
benign |
NM_005028.5(PIP4K2A):c.792+505C>T | single nucleotide variant | not provided [RCV001713274] | Chr10:22550154 [GRCh38] Chr10:22839083 [GRCh37] Chr10:10p12.2 |
benign |
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 | copy number gain | Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] | Chr10:135655..47688677 [GRCh37] Chr10:10p15.3-q11.22 |
not provided |
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) | copy number gain | not specified [RCV002052863] | Chr10:6273934..34732521 [GRCh37] Chr10:10p15.1-11.21 |
pathogenic |
GRCh37/hg19 10p12.31-12.2(chr10:22208767-23220277)x3 | copy number gain | not provided [RCV002474612] | Chr10:22208767..23220277 [GRCh37] Chr10:10p12.31-12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.186G>A (p.Met62Ile) | single nucleotide variant | Inborn genetic diseases [RCV002906967] | Chr10:22609676 [GRCh38] Chr10:22898605 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.128G>T (p.Trp43Leu) | single nucleotide variant | Inborn genetic diseases [RCV002685044] | Chr10:22714199 [GRCh38] Chr10:23003128 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.361C>T (p.Pro121Ser) | single nucleotide variant | Inborn genetic diseases [RCV002687563] | Chr10:22591760 [GRCh38] Chr10:22880689 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.1167C>A (p.Asn389Lys) | single nucleotide variant | Inborn genetic diseases [RCV002762880] | Chr10:22537255 [GRCh38] Chr10:22826184 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.31G>C (p.Val11Leu) | single nucleotide variant | Inborn genetic diseases [RCV002739582] | Chr10:22714296 [GRCh38] Chr10:23003225 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.472A>G (p.Ile158Val) | single nucleotide variant | Inborn genetic diseases [RCV002713498] | Chr10:22591649 [GRCh38] Chr10:22880578 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.376T>A (p.Ser126Thr) | single nucleotide variant | Inborn genetic diseases [RCV002929385] | Chr10:22591745 [GRCh38] Chr10:22880674 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.1001C>G (p.Pro334Arg) | single nucleotide variant | Inborn genetic diseases [RCV002941832] | Chr10:22541839 [GRCh38] Chr10:22830768 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.607C>T (p.Arg203Cys) | single nucleotide variant | Inborn genetic diseases [RCV002813600] | Chr10:22573343 [GRCh38] Chr10:22862272 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.907G>A (p.Glu303Lys) | single nucleotide variant | Inborn genetic diseases [RCV002669271] | Chr10:22541933 [GRCh38] Chr10:22830862 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.926C>A (p.Pro309Gln) | single nucleotide variant | Inborn genetic diseases [RCV002808732] | Chr10:22541914 [GRCh38] Chr10:22830843 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.917G>C (p.Gly306Ala) | single nucleotide variant | Inborn genetic diseases [RCV002920341] | Chr10:22541923 [GRCh38] Chr10:22830852 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.142T>G (p.Ser48Ala) | single nucleotide variant | Inborn genetic diseases [RCV002896393] | Chr10:22714185 [GRCh38] Chr10:23003114 [GRCh37] Chr10:10p12.2 |
uncertain significance |
NM_005028.5(PIP4K2A):c.890A>G (p.Asp297Gly) | single nucleotide variant | Inborn genetic diseases [RCV003195315] | Chr10:22541950 [GRCh38] Chr10:22830879 [GRCh37] Chr10:10p12.2 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_005028.5(PIP4K2A):c.847G>C (p.Val283Leu) | single nucleotide variant | Inborn genetic diseases [RCV003371050] | Chr10:22541993 [GRCh38] Chr10:22830922 [GRCh37] Chr10:10p12.2 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D10S553 |
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D10S1662 |
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WIAF-1715 |
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SHGC-58154 |
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RH70570 |
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STS-H93068 |
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RH46424 |
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SHGC-84121 |
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G63324 |
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D10S1522 |
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D10S1621E |
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SHGC-132136 |
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A006T43 |
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D10S1568 |
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RH78590 |
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D10S2371 |
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D10S1259 |
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SHGC-54644 |
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SHGC-33797 |
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D10S553 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2019 | 2299 | 1290 | 227 | 1930 | 165 | 2880 | 947 | 3613 | 316 | 1132 | 1575 | 77 | 1182 | 1690 | 2 | ||
Low | 420 | 692 | 436 | 397 | 20 | 300 | 1476 | 1250 | 121 | 103 | 328 | 38 | 98 | 1 | 22 | 1098 | 3 | 2 |
Below cutoff | 1 |
RefSeq Transcripts | NM_001330062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_005028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006717450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016330 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054366088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054366089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK023329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK294817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL157707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL390318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL513128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC018034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB504104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF445009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY318006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S78798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U14957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000323883 ⟹ ENSP00000326294 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000376573 ⟹ ENSP00000365757 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000422321 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000432610 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474335 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000545335 ⟹ ENSP00000442098 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000604912 ⟹ ENSP00000473858 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000605011 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001330062 ⟹ NP_001316991 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_005028 ⟹ NP_005019 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006717450 ⟹ XP_006717513 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017016330 ⟹ XP_016871819 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017016331 ⟹ XP_016871820 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047425351 ⟹ XP_047281307 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054366088 ⟹ XP_054222063 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054366089 ⟹ XP_054222064 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001316991 | (Get FASTA) | NCBI Sequence Viewer |
NP_005019 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006717513 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016871819 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016871820 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281307 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054222063 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054222064 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA64835 | (Get FASTA) | NCBI Sequence Viewer |
AAB35041 | (Get FASTA) | NCBI Sequence Viewer | |
AAH18034 | (Get FASTA) | NCBI Sequence Viewer | |
ACA06044 | (Get FASTA) | NCBI Sequence Viewer | |
ACA06045 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57933 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57970 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86140 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86141 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000326294.7 | ||
ENSP00000365757 | |||
ENSP00000365757.4 | |||
ENSP00000442098 | |||
ENSP00000442098.1 | |||
ENSP00000473858.1 | |||
GenBank Protein | P48426 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005019 ⟸ NM_005028 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P53807 (UniProtKB/Swiss-Prot), D3DRV1 (UniProtKB/Swiss-Prot), B4DGX2 (UniProtKB/Swiss-Prot), B0YJ66 (UniProtKB/Swiss-Prot), Q5VUX3 (UniProtKB/Swiss-Prot), P48426 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006717513 ⟸ XM_006717450 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016871819 ⟸ XM_017016330 |
- Peptide Label: | isoform X2 |
- UniProtKB: | P48426 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016871820 ⟸ XM_017016331 |
- Peptide Label: | isoform X2 |
- UniProtKB: | P48426 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001316991 ⟸ NM_001330062 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P48426 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000442098 ⟸ ENST00000545335 |
RefSeq Acc Id: | ENSP00000365757 ⟸ ENST00000376573 |
RefSeq Acc Id: | ENSP00000326294 ⟸ ENST00000323883 |
RefSeq Acc Id: | ENSP00000473858 ⟸ ENST00000604912 |
RefSeq Acc Id: | XP_047281307 ⟸ XM_047425351 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054222063 ⟸ XM_054366088 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054222064 ⟸ XM_054366089 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P48426-F1-model_v2 | AlphaFold | P48426 | 1-406 | view protein structure |
RGD ID: | 7217171 | ||||||||
Promoter ID: | EPDNEW_H14332 | ||||||||
Type: | initiation region | ||||||||
Name: | PIP4K2A_1 | ||||||||
Description: | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6787990 | ||||||||
Promoter ID: | HG_KWN:8846 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000376565, NM_005028 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:8997 | AgrOrtholog |
COSMIC | PIP4K2A | COSMIC |
Ensembl Genes | ENSG00000150867 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000323883.11 | UniProtKB/TrEMBL |
ENST00000376573 | ENTREZGENE | |
ENST00000376573.9 | UniProtKB/Swiss-Prot | |
ENST00000545335 | ENTREZGENE | |
ENST00000545335.5 | UniProtKB/Swiss-Prot | |
ENST00000604912.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2-Layer Sandwich | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.800.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000150867 | GTEx |
HGNC ID | HGNC:8997 | ENTREZGENE |
Human Proteome Map | PIP4K2A | Human Proteome Map |
InterPro | PInositol-4-P-4/5-kinase_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PInositol-4-P-5-kinase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PInositol-4-P-5-kinase_core | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PInositol-4-P-5-kinase_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5305 | UniProtKB/Swiss-Prot |
NCBI Gene | 5305 | ENTREZGENE |
OMIM | 603140 | OMIM |
PANTHER | PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE TYPE-2 ALPHA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR23086 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PIP5K | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162399615 | PharmGKB |
PROSITE | PIPK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | PIPKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SAICAR synthase-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B0YJ66 | ENTREZGENE |
B4DGX2 | ENTREZGENE | |
D3DRV1 | ENTREZGENE | |
H7BXS3_HUMAN | UniProtKB/TrEMBL | |
L8EAD2_HUMAN | UniProtKB/TrEMBL | |
P48426 | ENTREZGENE | |
P53807 | ENTREZGENE | |
PI42A_HUMAN | UniProtKB/Swiss-Prot | |
Q5VUX3 | ENTREZGENE | |
S4R320_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B0YJ66 | UniProtKB/Swiss-Prot |
B4DGX2 | UniProtKB/Swiss-Prot | |
D3DRV1 | UniProtKB/Swiss-Prot | |
P53807 | UniProtKB/Swiss-Prot | |
Q5VUX3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-19 | PIP4K2A | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | PIP4K2A | phosphatidylinositol-5-phosphate 4-kinase, type II, alpha | Symbol and/or name change | 5135510 | APPROVED |