Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | migraine with aura | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35115687 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | migraine with aura | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35115687 | |
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7527372 | PMID:8666403 | PMID:8889549 | PMID:9266672 | PMID:12477932 | PMID:15489334 | PMID:16344560 | PMID:17207965 | PMID:19060904 | PMID:19240061 | PMID:20379614 | PMID:21516116 |
PMID:21824479 | PMID:21940522 | PMID:22262177 | PMID:22479191 | PMID:22797727 | PMID:24556642 | PMID:25356737 | PMID:25416956 | PMID:26186194 | PMID:28514442 | PMID:30846004 | PMID:32040219 |
PMID:32296183 | PMID:33734003 | PMID:33961781 | PMID:35831314 | PMID:35914814 | PMID:36797372 |
MPPED2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mpped2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mpped2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mpped2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MPPED2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MPPED2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mpped2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MPPED2 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MPPED2 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mpped2 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in MPPED2
24 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 | copy number loss | See cases [RCV000052648] | Chr11:22550115..38199159 [GRCh38] Chr11:22571661..38220709 [GRCh37] Chr11:22528237..38177285 [NCBI36] Chr11:11p14.3-12 |
pathogenic |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 | copy number gain | See cases [RCV000053613] | Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
NM_001145399.1(MPPED2):c.241C>T (p.Leu81Phe) | single nucleotide variant | Malignant melanoma [RCV000069316] | Chr11:30536063 [GRCh38] Chr11:30557610 [GRCh37] Chr11:30514186 [NCBI36] Chr11:11p14.1 |
not provided |
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 | copy number loss | See cases [RCV000135295] | Chr11:26368962..35252976 [GRCh38] Chr11:26390509..35274523 [GRCh37] Chr11:26347085..35231099 [NCBI36] Chr11:11p14.2-13 |
pathogenic |
GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3 | copy number gain | See cases [RCV000134877] | Chr11:24595399..31096539 [GRCh38] Chr11:24616945..31118086 [GRCh37] Chr11:24573521..31074662 [NCBI36] Chr11:11p14.3-13 |
pathogenic |
GRCh38/hg38 11p14.1-13(chr11:30446855-31031357)x3 | copy number gain | See cases [RCV000137846] | Chr11:30446855..31031357 [GRCh38] Chr11:30468402..31052904 [GRCh37] Chr11:30424978..31009480 [NCBI36] Chr11:11p14.1-13 |
uncertain significance |
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 | copy number loss | See cases [RCV000142499] | Chr11:20079474..34463996 [GRCh38] Chr11:20101020..34485543 [GRCh37] Chr11:20057596..34442119 [NCBI36] Chr11:11p15.1-13 |
pathogenic |
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 | copy number loss | Aniridia 1 [RCV000420782] | Chr11:18536224..31923308 [GRCh37] Chr11:11p15.1-13 |
pathogenic |
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 | copy number loss | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400] | Chr11:21586131..33168232 [GRCh37] Chr11:11p15.1-13 |
pathogenic |
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 | copy number loss | See cases [RCV000445800] | Chr11:29238811..45494063 [GRCh37] Chr11:11p14.1-11.2 |
pathogenic |
GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1 | copy number loss | 11p partial monosomy syndrome [RCV000433834] | Chr11:29750813..32752091 [GRCh37] Chr11:11p14.1-13 |
pathogenic |
GRCh37/hg19 11p14.1-13(chr11:27895487-34494489)x1 | copy number loss | See cases [RCV000448524] | Chr11:27895487..34494489 [GRCh37] Chr11:11p14.1-13 |
pathogenic |
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 | copy number gain | See cases [RCV000448603] | Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12 |
pathogenic |
GRCh37/hg19 11p14.1-13(chr11:30461101-31067253)x3 | copy number gain | See cases [RCV000510483] | Chr11:30461101..31067253 [GRCh37] Chr11:11p14.1-13 |
uncertain significance |
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1 | copy number loss | See cases [RCV000512014] | Chr11:25771208..35614978 [GRCh37] Chr11:11p14.3-13 |
pathogenic |
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 | copy number gain | See cases [RCV000511561] | Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1 | copy number loss | See cases [RCV000511434] | Chr11:27588560..41770792 [GRCh37] Chr11:11p14.1-12 |
pathogenic|uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 | copy number gain | See cases [RCV000512477] | Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1 | copy number loss | not provided [RCV000683364] | Chr11:29883001..33865721 [GRCh37] Chr11:11p14.1-13 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 | copy number loss | not provided [RCV000737457] | Chr11:24469451..37524085 [GRCh37] Chr11:11p14.3-12 |
pathogenic |
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1 | copy number loss | not provided [RCV000737466] | Chr11:25196998..34196484 [GRCh37] Chr11:11p14.3-13 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p14.2-13(chr11:27154853-33302474)x1 | copy number loss | not provided [RCV000749997] | Chr11:27154853..33302474 [GRCh37] Chr11:11p14.2-13 |
pathogenic |
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 | copy number loss | not provided [RCV000849589] | Chr11:22079154..35597645 [GRCh37] Chr11:11p14.3-13 |
pathogenic |
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 | copy number gain | not provided [RCV001006372] | Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 | copy number gain | not provided [RCV001006387] | Chr11:11053978..34732891 [GRCh37] Chr11:11p15.3-13 |
pathogenic |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NC_000011.9:g.(?_30253450)_(32460464_?)del | deletion | not provided [RCV003113910] | Chr11:30253450..32460464 [GRCh37] Chr11:11p14.1-13 |
uncertain significance |
GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1 | copy number loss | not provided [RCV002265529] | Chr11:27547893..31656604 [GRCh37] Chr11:11p14.1-13 |
not provided |
NM_001584.3(MPPED2):c.617G>A (p.Gly206Asp) | single nucleotide variant | Inborn genetic diseases [RCV002738079] | Chr11:30417553 [GRCh38] Chr11:30439100 [GRCh37] Chr11:11p14.1 |
uncertain significance |
GRCh37/hg19 11p14.1-13(chr11:30461102-31063901)x3 | copy number gain | not provided [RCV003484834] | Chr11:30461102..31063901 [GRCh37] Chr11:11p14.1-13 |
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. |
D11S1145 |
|
|||||||||||||||||||||||||||||||||||
RH27776 |
|
|||||||||||||||||||||||||||||||||||
D11S3668 |
|
|||||||||||||||||||||||||||||||||||
SHGC-142084 |
|
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 | 1 | 102 | 663 | 5 | 5 | 3 | 160 | 46 | 193 | 622 | ||||||||
Low | 1709 | 1720 | 591 | 214 | 314 | 55 | 3118 | 1796 | 3430 | 271 | 1008 | 288 | 162 | 1 | 1063 | 2082 | 1 | 2 |
Below cutoff | 675 | 1066 | 452 | 393 | 1063 | 392 | 1224 | 388 | 136 | 90 | 238 | 660 | 8 | 141 | 706 | 3 |
RefSeq Acc Id: | ENST00000358117 ⟹ ENSP00000350833 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000448418 ⟹ ENSP00000388258 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000524636 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000524667 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000525519 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000526437 ⟹ ENSP00000432469 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000528686 ⟹ ENSP00000431805 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000529220 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001145399 ⟹ NP_001138871 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001377952 ⟹ NP_001364881 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001377953 ⟹ NP_001364882 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001377954 ⟹ NP_001364883 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001377955 ⟹ NP_001364884 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001377956 ⟹ NP_001364885 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001584 ⟹ NP_001575 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165336 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165337 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165338 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165339 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165340 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165341 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165342 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165343 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165344 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165345 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165346 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165347 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165348 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005253111 ⟹ XP_005253168 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005253114 ⟹ XP_005253171 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017018231 ⟹ XP_016873720 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024448676 ⟹ XP_024304444 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047427524 ⟹ XP_047283480 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047427525 ⟹ XP_047283481 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054369822 ⟹ XP_054225797 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054369823 ⟹ XP_054225798 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054369824 ⟹ XP_054225799 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054369825 ⟹ XP_054225800 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054369826 ⟹ XP_054225801 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054369827 ⟹ XP_054225802 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054369828 ⟹ XP_054225803 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007062496 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008488428 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_001138871 ⟸ NM_001145399 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001575 ⟸ NM_001584 |
- Peptide Label: | isoform 1 |
- UniProtKB: | E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot), Q15777 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005253168 ⟸ XM_005253111 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot), Q15777 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005253171 ⟸ XM_005253114 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016873720 ⟸ XM_017018231 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_024304444 ⟸ XM_024448676 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001364885 ⟸ NM_001377956 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001364881 ⟸ NM_001377952 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001364882 ⟸ NM_001377953 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001364883 ⟸ NM_001377954 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001364884 ⟸ NM_001377955 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | ENSP00000432469 ⟸ ENST00000526437 |
RefSeq Acc Id: | ENSP00000388258 ⟸ ENST00000448418 |
RefSeq Acc Id: | ENSP00000431805 ⟸ ENST00000528686 |
RefSeq Acc Id: | ENSP00000350833 ⟸ ENST00000358117 |
RefSeq Acc Id: | XP_047283481 ⟸ XM_047427525 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047283480 ⟸ XM_047427524 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054225798 ⟸ XM_054369823 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054225800 ⟸ XM_054369825 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054225797 ⟸ XM_054369822 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054225799 ⟸ XM_054369824 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15777 (UniProtKB/Swiss-Prot), E9PB10 (UniProtKB/Swiss-Prot), D3DQZ5 (UniProtKB/Swiss-Prot), Q59GE6 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054225801 ⟸ XM_054369826 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054225802 ⟸ XM_054369827 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054225803 ⟸ XM_054369828 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q15777-F1-model_v2 | AlphaFold | Q15777 | 1-294 | view protein structure |
RGD ID: | 6789112 | ||||||||
Promoter ID: | HG_KWN:12546 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Jurkat | ||||||||
Transcripts: | NM_001145399 | ||||||||
Position: |
|
RGD ID: | 7219919 | ||||||||
Promoter ID: | EPDNEW_H15705 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | MPPED2_2 | ||||||||
Description: | metallophosphoesterase domain containing 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15706 EPDNEW_H15711 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7219921 | ||||||||
Promoter ID: | EPDNEW_H15706 | ||||||||
Type: | initiation region | ||||||||
Name: | MPPED2_1 | ||||||||
Description: | metallophosphoesterase domain containing 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15705 EPDNEW_H15711 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:1180 | AgrOrtholog |
COSMIC | MPPED2 | COSMIC |
Ensembl Genes | ENSG00000066382 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000358117 | ENTREZGENE |
ENST00000358117.10 | UniProtKB/Swiss-Prot | |
ENST00000448418 | ENTREZGENE | |
ENST00000448418.6 | UniProtKB/Swiss-Prot | |
ENST00000526437.5 | UniProtKB/TrEMBL | |
ENST00000528686.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.60.21.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000066382 | GTEx |
HGNC ID | HGNC:1180 | ENTREZGENE |
Human Proteome Map | MPPED2 | Human Proteome Map |
InterPro | Calcineurin-like_Pesterase | UniProtKB/Swiss-Prot |
Calcineurin-like_PHP_ApaH | UniProtKB/Swiss-Prot | |
Metallo-depent_PP-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:744 | UniProtKB/Swiss-Prot |
NCBI Gene | 744 | ENTREZGENE |
OMIM | 600911 | OMIM |
PANTHER | METALLOPHOSPHOESTERASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
METALLOPHOSPHOESTERASE MPPED2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Metallophos | UniProtKB/Swiss-Prot |
PharmGKB | PA25499 | PharmGKB |
PIRSF | Pdiesterase_Brain_239 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF56300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | D3DQZ5 | ENTREZGENE |
E9PB10 | ENTREZGENE | |
E9PQW8_HUMAN | UniProtKB/TrEMBL | |
F2Z346_HUMAN | UniProtKB/TrEMBL | |
L8E791_HUMAN | UniProtKB/TrEMBL | |
MPPD2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q59GE6 | ENTREZGENE | |
UniProt Secondary | D3DQZ5 | UniProtKB/Swiss-Prot |
E9PB10 | UniProtKB/Swiss-Prot | |
Q59GE6 | UniProtKB/Swiss-Prot |