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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Frmpd4 | Mouse | non-syndromic X-linked intellectual disability 104 | | ISO | FRMPD4 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Frmpd4 | Mouse | non-syndromic X-linked intellectual disability 104 | | ISO | FRMPD4 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12693553 | PMID:14610273 | PMID:16141072 | PMID:16141073 | PMID:19118189 | PMID:21267068 |
PMID:21677750 | PMID:21873635 | PMID:22074847 | PMID:22561452 | PMID:22627790 | PMID:29267967 | PMID:30523785 | PMID:31235685 | PMID:35930666 | PMID:36417873 | PMID:36604605 | PMID:37816598 |
PMID:38355793 |
Frmpd4 (Mus musculus - house mouse) |
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FRMPD4 (Homo sapiens - human) |
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Frmpd4 (Rattus norvegicus - Norway rat) |
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Frmpd4 (Chinchilla lanigera - long-tailed chinchilla) |
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FRMPD4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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FRMPD4 (Canis lupus familiaris - dog) |
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Frmpd4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FRMPD4 (Sus scrofa - pig) |
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FRMPD4 (Chlorocebus sabaeus - green monkey) |
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Frmpd4 (Heterocephalus glaber - naked mole-rat) |
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Variants in Frmpd4
29402 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 |
02.MHAa50e2.seq |
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MTH763 |
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DXMit29 |
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DXMit30 |
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DXMit71.1 |
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DXMit71 |
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20.MMHAP25FLG2.seq |
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RH144489 |
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UniSTS:238112 |
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px-16h2 |
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px-40b2 |
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px-56a12 |
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px-63e8 |
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px-28c8 |
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px-56a9 |
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Ensembl Acc Id: | ENSMUST00000112145 ⟹ ENSMUSP00000107773 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000112146 ⟹ ENSMUSP00000107774 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000112147 ⟹ ENSMUSP00000107775 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000112149 ⟹ ENSMUSP00000107777 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000238211 ⟹ ENSMUSP00000158917 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000238709 ⟹ ENSMUSP00000158713 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000239138 ⟹ ENSMUSP00000159190 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001033330 ⟹ NP_001028502 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001290427 ⟹ NP_001277356 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001290428 ⟹ NP_001277357 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001359072 ⟹ NP_001346001 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001368936 ⟹ NP_001355865 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001369234 ⟹ NP_001356163 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006528885 ⟹ XP_006528948 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006528888 ⟹ XP_006528951 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006528889 ⟹ XP_006528952 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247832 ⟹ XP_011246134 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247833 ⟹ XP_011246135 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247834 ⟹ XP_011246136 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036161994 ⟹ XP_036017887 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_001028502 ⟸ NM_001033330 |
- Peptide Label: | isoform a |
- UniProtKB: | Q80U41 (UniProtKB/Swiss-Prot), Q3UHI9 (UniProtKB/Swiss-Prot), Q3UHE4 (UniProtKB/Swiss-Prot), B9EIG4 (UniProtKB/Swiss-Prot), A2AFR3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006528948 ⟸ XM_006528885 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A571BG68 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006528951 ⟸ XM_006528888 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006528952 ⟸ XM_006528889 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | NP_001277356 ⟸ NM_001290427 |
- Peptide Label: | isoform a |
- UniProtKB: | Q80U41 (UniProtKB/Swiss-Prot), Q3UHI9 (UniProtKB/Swiss-Prot), Q3UHE4 (UniProtKB/Swiss-Prot), B9EIG4 (UniProtKB/Swiss-Prot), A2AFR3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001277357 ⟸ NM_001290428 |
- Peptide Label: | isoform b |
- UniProtKB: | Q80U41 (UniProtKB/Swiss-Prot), Q3UHI9 (UniProtKB/Swiss-Prot), Q3UHE4 (UniProtKB/Swiss-Prot), B9EIG4 (UniProtKB/Swiss-Prot), A2AFR3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011246136 ⟸ XM_011247834 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011246135 ⟸ XM_011247833 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011246134 ⟸ XM_011247832 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | NP_001356163 ⟸ NM_001369234 |
- Peptide Label: | isoform d |
- UniProtKB: | A0A571BG68 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001346001 ⟸ NM_001359072 |
- Peptide Label: | isoform c |
- UniProtKB: | Q80U41 (UniProtKB/Swiss-Prot), Q3UHI9 (UniProtKB/Swiss-Prot), Q3UHE4 (UniProtKB/Swiss-Prot), B9EIG4 (UniProtKB/Swiss-Prot), A2AFR3 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001355865 ⟸ NM_001368936 |
- Peptide Label: | isoform 5 |
- UniProtKB: | A0A589MR22 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSMUSP00000159190 ⟸ ENSMUST00000239138 |
Ensembl Acc Id: | ENSMUSP00000107773 ⟸ ENSMUST00000112145 |
Ensembl Acc Id: | ENSMUSP00000107775 ⟸ ENSMUST00000112147 |
Ensembl Acc Id: | ENSMUSP00000107774 ⟸ ENSMUST00000112146 |
Ensembl Acc Id: | ENSMUSP00000107777 ⟸ ENSMUST00000112149 |
Ensembl Acc Id: | ENSMUSP00000158917 ⟸ ENSMUST00000238211 |
Ensembl Acc Id: | ENSMUSP00000158713 ⟸ ENSMUST00000238709 |
RefSeq Acc Id: | XP_036017887 ⟸ XM_036161994 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q80U41 (UniProtKB/Swiss-Prot), Q3UHI9 (UniProtKB/Swiss-Prot), Q3UHE4 (UniProtKB/Swiss-Prot), B9EIG4 (UniProtKB/Swiss-Prot), A2AFR3 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A2AFR3-F1-model_v2 | AlphaFold | A2AFR3 | 1-1320 | view protein structure |
RGD ID: | 6845724 | ||||||||
Promoter ID: | MM_KWN:62748 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | ENSMUST00000058979 | ||||||||
Position: |
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RGD ID: | 6845723 | ||||||||
Promoter ID: | MM_KWN:62753 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | ENSMUST00000112149 | ||||||||
Position: |
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RGD ID: | 13681860 | ||||||||
Promoter ID: | EPDNEW_M25079 | ||||||||
Type: | initiation region | ||||||||
Name: | Frmpd4_1 | ||||||||
Description: | Mus musculus FERM and PDZ domain containing 4 , transcript variant1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M25080 EPDNEW_M25081 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13681862 | ||||||||
Promoter ID: | EPDNEW_M25080 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Frmpd4_3 | ||||||||
Description: | Mus musculus FERM and PDZ domain containing 4 , transcript variant1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M25079 EPDNEW_M25081 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13681864 | ||||||||
Promoter ID: | EPDNEW_M25081 | ||||||||
Type: | single initiation site | ||||||||
Name: | Frmpd4_2 | ||||||||
Description: | Mus musculus FERM and PDZ domain containing 4 , transcript variant1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M25079 EPDNEW_M25080 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:3042378 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000049176 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000112145 | ENTREZGENE |
ENSMUST00000112145.3 | UniProtKB/Swiss-Prot | |
ENSMUST00000112146 | ENTREZGENE | |
ENSMUST00000112146.9 | UniProtKB/TrEMBL | |
ENSMUST00000112147.9 | UniProtKB/TrEMBL | |
ENSMUST00000112149.9 | UniProtKB/Swiss-Prot | |
ENSMUST00000238211 | ENTREZGENE | |
ENSMUST00000238211.2 | UniProtKB/Swiss-Prot | |
ENSMUST00000238709 | ENTREZGENE | |
ENSMUST00000238709.2 | UniProtKB/TrEMBL | |
ENSMUST00000239138.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.20.80.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.20.70.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
2.30.42.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | Band_41_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FAK1-like_FERM_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM/acyl-CoA-bd_prot_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM_central | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FRMPD1/3/4_FERM_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ubiquitin-like_domsf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WW_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WW_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:333605 | UniProtKB/Swiss-Prot |
MGD | MGI:3042378 | ENTREZGENE |
NCBI Gene | Frmpd4 | ENTREZGENE |
PANTHER | FERM AND PDZ DOMAIN-CONTAINING PROTEIN 4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FERM AND PDZ DOMAIN-CONTAINING PROTEIN FAMILY MEMBER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | FERM_C_FAK1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FERM_M | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Frmpd4 | PhenoGen |
PROSITE | FERM_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WW_DOMAIN_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | B41 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF47031 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF50156 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF51045 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF54236 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A571BG68 | ENTREZGENE, UniProtKB/TrEMBL |
A0A589MR22 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A589MR67_MOUSE | UniProtKB/TrEMBL | |
A2AFR3 | ENTREZGENE | |
B9EIG4 | ENTREZGENE | |
FRPD4_MOUSE | UniProtKB/Swiss-Prot | |
Q3UHE4 | ENTREZGENE | |
Q3UHI9 | ENTREZGENE | |
Q80U41 | ENTREZGENE | |
UniProt Secondary | B9EIG4 | UniProtKB/Swiss-Prot |
Q3UHE4 | UniProtKB/Swiss-Prot | |
Q3UHI9 | UniProtKB/Swiss-Prot | |
Q80U41 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2024-08-26 | Frmpd4 | FERM and PDZ domain containing 4 | Pdzk10 | PDZ domain containing 10 | Symbol and/or name updated | 27372883 | PROVISIONAL |
2024-08-21 | Pdzk10 | PDZ domain containing 10 | Frmpd4 | FERM and PDZ domain containing 4 | Symbol and/or name change | 5135510 | APPROVED |