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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | SMPD4 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | SMPD4 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:16517606 | PMID:18505924 | PMID:27996060 | PMID:31142202 | PMID:31495489 |
Smpd4 (Rattus norvegicus - Norway rat) |
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SMPD4 (Homo sapiens - human) |
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Smpd4 (Mus musculus - house mouse) |
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Smpd4 (Chinchilla lanigera - long-tailed chinchilla) |
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SMPD4 (Canis lupus familiaris - dog) |
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Smpd4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SMPD4 (Sus scrofa - pig) |
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SMPD4 (Chlorocebus sabaeus - green monkey) |
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Smpd4 (Heterocephalus glaber - naked mole-rat) |
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Variants in Smpd4
105 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 |
RH134498 |
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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 | appendage | |
High | |||||||||||||
Medium | 3 | 34 | 44 | 31 | 16 | 31 | 66 | 29 | 41 | 11 | |||
Low | 9 | 13 | 10 | 3 | 10 | 8 | 11 | 8 | 6 | 8 | |||
Below cutoff |
RefSeq Transcripts | NM_001167806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008768878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039088264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039088265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039088266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
FQ211899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000043545 ⟹ ENSRNOP00000047410 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000102059 ⟹ ENSRNOP00000090299 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000102536 ⟹ ENSRNOP00000089916 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000104577 ⟹ ENSRNOP00000082466 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000107761 ⟹ ENSRNOP00000096822 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110966 ⟹ ENSRNOP00000096298 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000114247 ⟹ ENSRNOP00000080381 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001167806 ⟹ NP_001161278 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008768878 ⟹ XP_008767100 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039088264 ⟹ XP_038944192 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039088265 ⟹ XP_038944193 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039088266 ⟹ XP_038944194 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001161278 | (Get FASTA) | NCBI Sequence Viewer |
XP_008767100 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038944192 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038944193 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038944194 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL77898 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000047410 | ||
ENSRNOP00000047410.6 | |||
ENSRNOP00000080381 | |||
ENSRNOP00000080381.1 | |||
ENSRNOP00000082466.1 | |||
ENSRNOP00000089916 | |||
ENSRNOP00000089916.1 | |||
ENSRNOP00000090299.1 | |||
ENSRNOP00000096298.1 | |||
ENSRNOP00000096822 | |||
ENSRNOP00000096822.1 |
RefSeq Acc Id: | NP_001161278 ⟸ NM_001167806 |
- UniProtKB: | A6JSK9 (UniProtKB/TrEMBL), F1MAK9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008767100 ⟸ XM_008768878 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I6B4V4 (UniProtKB/TrEMBL), F1MAK9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000047410 ⟸ ENSRNOT00000043545 |
RefSeq Acc Id: | XP_038944193 ⟸ XM_039088265 |
- Peptide Label: | isoform X3 |
- UniProtKB: | F1MAK9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038944192 ⟸ XM_039088264 |
- Peptide Label: | isoform X2 |
- UniProtKB: | F1MAK9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038944194 ⟸ XM_039088266 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8I5ZPX8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000089916 ⟸ ENSRNOT00000102536 |
RefSeq Acc Id: | ENSRNOP00000080381 ⟸ ENSRNOT00000114247 |
RefSeq Acc Id: | ENSRNOP00000082466 ⟸ ENSRNOT00000104577 |
RefSeq Acc Id: | ENSRNOP00000096298 ⟸ ENSRNOT00000110966 |
RefSeq Acc Id: | ENSRNOP00000090299 ⟸ ENSRNOT00000102059 |
RefSeq Acc Id: | ENSRNOP00000096822 ⟸ ENSRNOT00000107761 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F1MAK9-F1-model_v2 | AlphaFold | F1MAK9 | 1-824 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13698322 | ||||||||
Promoter ID: | EPDNEW_R8846 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Smpd4_1 | ||||||||
Description: | sphingomyelin phosphodiesterase 4 | ||||||||
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 | RGD:1310674 | AgrOrtholog |
BioCyc Gene | G2FUF-20602 | BioCyc |
BioCyc Pathway | PWY3DJ-11281 [sphingomyelin metabolism] | BioCyc |
Ensembl Genes | ENSRNOG00000001875 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000043545 | ENTREZGENE |
ENSRNOT00000043545.6 | UniProtKB/TrEMBL | |
ENSRNOT00000102059.1 | UniProtKB/TrEMBL | |
ENSRNOT00000102536 | ENTREZGENE | |
ENSRNOT00000102536.1 | UniProtKB/TrEMBL | |
ENSRNOT00000104577.1 | UniProtKB/TrEMBL | |
ENSRNOT00000107761 | ENTREZGENE | |
ENSRNOT00000107761.1 | UniProtKB/TrEMBL | |
ENSRNOT00000110966.1 | UniProtKB/TrEMBL | |
ENSRNOT00000114247 | ENTREZGENE | |
ENSRNOT00000114247.1 | UniProtKB/TrEMBL | |
InterPro | Sphingomy_SMPD4 | UniProtKB/TrEMBL |
NCBI Gene | 303790 | ENTREZGENE |
PANTHER | PTHR12988 | UniProtKB/TrEMBL |
SPHINGOMYELIN PHOSPHODIESTERASE 4 | UniProtKB/TrEMBL | |
Pfam | mit_SMPDase | UniProtKB/TrEMBL |
PhenoGen | Smpd4 | PhenoGen |
RatGTEx | ENSRNOG00000001875 | RatGTEx |
UniProt | A0A8I5ZPX8 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZXZ7_RAT | UniProtKB/TrEMBL | |
A0A8I6ADG7_RAT | UniProtKB/TrEMBL | |
A0A8I6B4V4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6GIS3_RAT | UniProtKB/TrEMBL | |
A0A8I6GLJ2_RAT | UniProtKB/TrEMBL | |
A6JSK9 | ENTREZGENE, UniProtKB/TrEMBL | |
F1MAK9 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5U2Q9_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-03-16 | Smpd4 | sphingomyelin phosphodiesterase 4 | Smpd4 | sphingomyelin phosphodiesterase 4, neutral membrane | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-27 | Smpd4 | sphingomyelin phosphodiesterase 4 | RGD1310674 | similar to RIKEN cDNA 4122402O22 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-12-06 | RGD1310674 | similar to RIKEN cDNA 4122402O22 | RGD1310674_predicted | similar to RIKEN cDNA 4122402O22 (predicted) | Symbol and Name updated | 1559027 | APPROVED |
2005-01-20 | RGD1310674_predicted | similar to RIKEN cDNA 4122402O22 (predicted) | LOC303790_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
2005-01-12 | LOC303790_predicted | similar to RIKEN cDNA 4122402O22 (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |