Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | focal dermal hypoplasia | | ISO | PORCN (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17546030 and PMID:17546031 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | focal dermal hypoplasia | | ISO | PORCN (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17546030 and PMID:17546031 | |
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# | Reference Title | Reference Citation |
1. | Wntless in Wnt secretion: molecular, cellular and genetic aspects. | Das S, etal., Front Biol (Beijing). 2012 Dec 1;7(6):587-593. |
2. | Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. | Derry JM, etal., Nat Genet 1999 Jul;22(3):286-90. |
3. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
4. | A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation. | Means GD, etal., Genomics 2000 May 1;65(3):213-23. |
5. | MGDs mouse GO annotations | MGD data from the GO Consortium |
6. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
8. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
9. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
12. | The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family. | Tanaka K, etal., Eur J Biochem 2000 Jul;267(13):4300-11. |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11309666 | PMID:12466305 | PMID:12477932 | PMID:12520002 | PMID:12842094 | PMID:14610273 | PMID:15489334 | PMID:15782199 |
PMID:16141072 | PMID:16141073 | PMID:17141155 | PMID:18287559 | PMID:18799693 | PMID:19515997 | PMID:19521566 | PMID:20548051 | PMID:21267068 | PMID:21554866 | PMID:21768372 | PMID:21873635 |
PMID:22357957 | PMID:22412863 | PMID:22632720 | PMID:22888000 | PMID:23760955 | PMID:24223895 | PMID:24277854 | PMID:24527386 | PMID:24619415 | PMID:24798332 | PMID:24821987 | PMID:24952961 |
PMID:25451153 | PMID:26089398 | PMID:26273529 | PMID:26776514 | PMID:27083283 | PMID:27492485 | PMID:27734833 | PMID:27965056 | PMID:28655768 | PMID:29036275 | PMID:29066530 | PMID:29559533 |
PMID:29720649 | PMID:30146480 | PMID:30692207 | PMID:31462532 | PMID:31585741 | PMID:32394892 | PMID:32721381 | PMID:32907846 | PMID:34108937 | PMID:34321999 | PMID:34547456 | PMID:37028407 |
PMID:37553620 |
Porcn (Mus musculus - house mouse) |
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PORCN (Homo sapiens - human) |
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Porcn (Rattus norvegicus - Norway rat) |
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Porcn (Chinchilla lanigera - long-tailed chinchilla) |
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PORCN (Pan paniscus - bonobo/pygmy chimpanzee) |
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PORCN (Canis lupus familiaris - dog) |
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Porcn (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PORCN (Sus scrofa - pig) |
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PORCN (Chlorocebus sabaeus - green monkey) |
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Porcn (Heterocephalus glaber - naked mole-rat) |
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Variants in Porcn
201 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
BB265815 |
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Ppn-pending |
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AW045557 |
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Porcn |
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RefSeq Transcripts | NM_001308474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_016913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_023638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_145907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_145908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_131893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006527644 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030251383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036162014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036162015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036162016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_003953014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004940352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004940353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_878030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB036746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB036747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB036748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB036749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI839581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK191516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL663032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC032284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF462782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ556448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU707440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000077595 ⟹ ENSMUSP00000076790 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000082320 ⟹ ENSMUSP00000080937 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000089402 ⟹ ENSMUSP00000086824 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000089403 ⟹ ENSMUSP00000086825 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000122943 ⟹ ENSMUSP00000138626 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000139744 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000154695 ⟹ ENSMUSP00000138661 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001308474 ⟹ NP_001295403 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_016913 ⟹ NP_058609 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_023638 ⟹ NP_076127 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_145907 ⟹ NP_665914 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_145908 ⟹ NP_665915 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_131893 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006527644 ⟹ XP_006527707 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030251383 ⟹ XP_030107243 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036162014 ⟹ XP_036017907 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036162015 ⟹ XP_036017908 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036162016 ⟹ XP_036017909 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003953014 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004940352 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004940353 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_878030 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001295403 | (Get FASTA) | NCBI Sequence Viewer |
NP_058609 | (Get FASTA) | NCBI Sequence Viewer | |
NP_076127 | (Get FASTA) | NCBI Sequence Viewer | |
NP_665914 | (Get FASTA) | NCBI Sequence Viewer | |
NP_665915 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006527707 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030107243 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036017907 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036017908 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036017909 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH27292 | (Get FASTA) | NCBI Sequence Viewer |
AAH32284 | (Get FASTA) | NCBI Sequence Viewer | |
BAA89467 | (Get FASTA) | NCBI Sequence Viewer | |
BAA89468 | (Get FASTA) | NCBI Sequence Viewer | |
BAA89469 | (Get FASTA) | NCBI Sequence Viewer | |
BAA89470 | (Get FASTA) | NCBI Sequence Viewer | |
BAB26914 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33964 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33965 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33966 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33967 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33968 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33969 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33970 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33971 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000076790 | ||
ENSMUSP00000076790.6 | |||
ENSMUSP00000080937 | |||
ENSMUSP00000080937.6 | |||
ENSMUSP00000086824 | |||
ENSMUSP00000086824.4 | |||
ENSMUSP00000086825 | |||
ENSMUSP00000086825.4 | |||
ENSMUSP00000138626.2 | |||
ENSMUSP00000138661.2 | |||
GenBank Protein | Q9JJJ7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_076127 ⟸ NM_023638 |
- Peptide Label: | isoform D |
- UniProtKB: | Q9JJJ9 (UniProtKB/Swiss-Prot), Q9JJJ8 (UniProtKB/Swiss-Prot), Q9CWT0 (UniProtKB/Swiss-Prot), A2AC33 (UniProtKB/Swiss-Prot), A2AC32 (UniProtKB/Swiss-Prot), A2AC30 (UniProtKB/Swiss-Prot), Q9JJK0 (UniProtKB/Swiss-Prot), Q9JJJ7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_665915 ⟸ NM_145908 |
- Peptide Label: | isoform B |
- UniProtKB: | Q9JJJ7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_665914 ⟸ NM_145907 |
- Peptide Label: | isoform C |
- UniProtKB: | Q9JJJ7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_058609 ⟸ NM_016913 |
- Peptide Label: | isoform A |
- UniProtKB: | Q9JJJ7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006527707 ⟸ XM_006527644 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001295403 ⟸ NM_001308474 |
- Peptide Label: | isoform E |
- UniProtKB: | Q9JJJ7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_030107243 ⟸ XM_030251383 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | ENSMUSP00000138661 ⟸ ENSMUST00000154695 |
RefSeq Acc Id: | ENSMUSP00000086824 ⟸ ENSMUST00000089402 |
RefSeq Acc Id: | ENSMUSP00000086825 ⟸ ENSMUST00000089403 |
RefSeq Acc Id: | ENSMUSP00000138626 ⟸ ENSMUST00000122943 |
RefSeq Acc Id: | ENSMUSP00000076790 ⟸ ENSMUST00000077595 |
RefSeq Acc Id: | ENSMUSP00000080937 ⟸ ENSMUST00000082320 |
RefSeq Acc Id: | XP_036017907 ⟸ XM_036162014 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_036017909 ⟸ XM_036162016 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_036017908 ⟸ XM_036162015 |
- Peptide Label: | isoform X4 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9JJJ7-F1-model_v2 | AlphaFold | Q9JJJ7 | 1-461 | view protein structure |
RGD ID: | 6846131 | ||||||||
Promoter ID: | MM_KWN:59487 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6 | ||||||||
Transcripts: | ENSMUST00000077595, ENSMUST00000082320, ENSMUST00000089402, ENSMUST00000089403, ENSMUST00000115602, OTTMUST00000043791, UC009SON.1 | ||||||||
Position: |
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RGD ID: | 13680044 | ||||||||
Promoter ID: | EPDNEW_M24171 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Porcn_1 | ||||||||
Description: | Mus musculus porcupine O-acyltransferase , transcript variante, mRNA. | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | MGI:1890212 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000031169 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000077595 | ENTREZGENE |
ENSMUST00000077595.12 | UniProtKB/Swiss-Prot | |
ENSMUST00000082320 | ENTREZGENE | |
ENSMUST00000082320.12 | UniProtKB/Swiss-Prot | |
ENSMUST00000089402 | ENTREZGENE | |
ENSMUST00000089402.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000089403 | ENTREZGENE | |
ENSMUST00000089403.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000122943 | ENTREZGENE | |
ENSMUST00000122943.2 | UniProtKB/TrEMBL | |
ENSMUST00000154695.8 | UniProtKB/TrEMBL | |
InterPro | MBOAT_fam | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | mmu:53627 | UniProtKB/Swiss-Prot |
MGD | MGI:1890212 | ENTREZGENE |
NCBI Gene | 53627 | ENTREZGENE |
PANTHER | PORCUPINE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN-SERINE O-PALMITOLEOYLTRANSFERASE PORCUPINE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | MBOAT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Porcn | PhenoGen |
UniProt | A2AC30 | ENTREZGENE |
A2AC32 | ENTREZGENE | |
A2AC33 | ENTREZGENE | |
PORCN_MOUSE | UniProtKB/Swiss-Prot | |
Q05CC9_MOUSE | UniProtKB/TrEMBL | |
Q9CWT0 | ENTREZGENE | |
Q9JJJ7 | ENTREZGENE | |
Q9JJJ8 | ENTREZGENE | |
Q9JJJ9 | ENTREZGENE | |
Q9JJK0 | ENTREZGENE | |
S4R2F8_MOUSE | UniProtKB/TrEMBL | |
S4R2I7_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | A2AC30 | UniProtKB/Swiss-Prot |
A2AC32 | UniProtKB/Swiss-Prot | |
A2AC33 | UniProtKB/Swiss-Prot | |
Q9CWT0 | UniProtKB/Swiss-Prot | |
Q9JJJ8 | UniProtKB/Swiss-Prot | |
Q9JJJ9 | UniProtKB/Swiss-Prot | |
Q9JJK0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2017-10-24 | Porcn | porcupine O-acyltransferase | porcupine homolog (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |