Aliases for SPATA18 Gene
Aliases for SPATA18 Gene
External Ids for SPATA18 Gene
- HGNC: 29579
- Entrez Gene: 132671
- Ensembl: ENSG00000163071
- OMIM: 612814
- UniProtKB: Q8TC71
Previous GeneCards Identifiers for SPATA18 Gene
- GC04P052759
- GC04P052612
- GC04P052917
- GC04P048859
Summaries for SPATA18 Gene
-
This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GeneCards Summary for SPATA18 Gene
SPATA18 (Spermatogenesis Associated 18) is a Protein Coding gene.
UniProtKB/Swiss-Prot for SPATA18 Gene
-
Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA18 Gene
Genomics for SPATA18 Gene
Regulatory Elements for SPATA18 Gene
Enhancers for SPATA18 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH04G051858 | 0.7 | ENCODE | 10.1 | -191.9 | -191922 | 1.4 | MAX ZNF384 ZBTB40 RAD21 YY1 ZNF316 NCOR1 HNF4G MAFK REST | SPATA18 DUTP7 PIR46111 |
| GH04G052882 | 0.5 | ENCODE | 4.5 | +832.2 | 832210 | 1.6 | ZFHX2 TARDBP KDM1A CHD7 EGR2 | DANCR SPATA18 GC04M052884 PIR51358 |
| GH04G052051 | 0.9 | ENCODE | 0.7 | +0.7 | 663 | 1.8 | TBP PKNOX1 ATF1 ARID4B SIN3A DMAP1 BMI1 DNMT3B ZNF48 ZNF121 | SGCB SPATA18 GC04P052290 |
| GH04G052059 | 0.8 | ENCODE | 0.4 | +8.2 | 8229 | 0.1 | INSM2 FEZF1 GLIS2 OVOL3 ZEB2 TSHZ1 ZNF843 PRDM6 SMARCA4 GLIS1 | SGCB SPATA18 GC04P052290 |
| GH04G052076 | 0.4 | Ensembl | 0.3 | +25.6 | 25570 | 0.2 | HDAC2 SMARCA4 | SPATA18 GC04P052290 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SPATA18 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SPATA18 gene promoter:
Regulatory Element Products
Genomic Location for SPATA18 Gene
- Chromosome:
- 4
- Start:
- 52,051,331 bp from pter
- End:
- 52,097,305 bp from pter
- Size:
- 45,975 bases
- Orientation:
- Plus strand
Genomic View for SPATA18 Gene
Genes around SPATA18 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q12 by Ensembl
- 4q12 by Entrez Gene
- 4q12 by HGNC
SPATA18 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SPATA18 Gene
Proteins for SPATA18 Gene
-
Protein details for SPATA18 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TC71-MIEAP_HUMAN
- Recommended name:
- Mitochondria-eating protein
- Protein Accession:
- Q8TC71
- B4E2R0
- E5RLK1
- Q8IY48
- Q8N7D7
Protein attributes for SPATA18 Gene
- Size:
- 538 amino acids
- Molecular mass:
- 61109 Da
- Quaternary structure:
-
- Interacts (via coiled-coil domains) with BNIP3L (via BH3 domain). Interacts (via coiled-coil domains) with BNIP3 (via BH3 domain).
- SequenceCaution:
-
- Sequence=BAC05356.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SPATA18 Gene
Post-translational modifications for SPATA18 Gene
Other Protein References for SPATA18 Gene
Antibody Products
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-
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Protein Products
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Assay Products
- antibodies-online Kits for SPATA18: See all 6
No data available for DME Specific Peptides for SPATA18 Gene
Domains & Families for SPATA18 Gene
Suggested Antigen Peptide Sequences for SPATA18 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8TC71- Family:
-
- Belongs to the MIEAP family.
No data available for Gene Families for SPATA18 Gene
Function for SPATA18 Gene
Molecular function for SPATA18 Gene
- UniProtKB/Swiss-Prot Function:
- Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix.
- UniProtKB/Swiss-Prot Induction:
- By p53/TP53 and p63/TP63. Directly activated by p53/TP53.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 21264221 |
Phenotypes for SPATA18 Gene
- GenomeRNAi human phenotypes for SPATA18:
Animal Model Products
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ViGene Biosciences lentiviral particle packaged cDNA for SPATA18 gene
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CRISPR Products
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Santa Cruz Biotechnology (SCBT) CRISPR for SPATA18
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miRNA for SPATA18 Gene
- miRTarBase miRNAs that target SPATA18
-
- hsa-mir-335-5p (MIRT017774)
- hsa-mir-510-3p (MIRT545163)
- hsa-mir-203a-3p (MIRT545164)
- hsa-mir-7977 (MIRT545165)
- hsa-mir-4726-3p (MIRT545166)
- hsa-mir-6764-5p (MIRT545167)
- hsa-mir-1915-3p (MIRT545168)
- hsa-mir-6840-3p (MIRT545169)
- hsa-mir-665 (MIRT545170)
- hsa-mir-4768-3p (MIRT545171)
- hsa-mir-3938 (MIRT545172)
- hsa-mir-6888-5p (MIRT545174)
miRNA Products
- Search ViGene Biosciences for SPATA18
Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for SPATA18
-
ViGene Biosciences adenoviral particle packaged cDNA for SPATA18 gene
-
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-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA18 Gene
Localization for SPATA18 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPATA18 Gene
- Cytoplasm. Mitochondrion outer membrane. Note=Localizes to the cytoplasm under normal conditions (PubMed:21264228). Relocalizes to mitochondrion outer membrane following cellular stress. Colocalizes with BNIP3 and BNIP3L at the mitochondrion outer membrane (PubMed:22292033). {ECO:0000269 PubMed:21264228, ECO:0000269 PubMed:22292033}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA,IEA | 21264221 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005741 | mitochondrial outer membrane | IEA,IDA | 21264221 |
| GO:0016020 | membrane | IEA | -- |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | 21264228 |
Pathways & Interactions for SPATA18 Gene
No Data Available
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006974 | cellular response to DNA damage stimulus | IDA | 21264221 |
| GO:0033554 | cellular response to stress | IEA | -- |
| GO:0035694 | mitochondrial protein catabolic process | IMP | 21264221 |
| GO:0035695 | mitophagy by induced vacuole formation | IMP | 21264228 |
No data available for Pathways by source and SIGNOR curated interactions for SPATA18 Gene
Transcripts for SPATA18 Gene
mRNA/cDNA for SPATA18 Gene
- (11) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (71) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SPATA18 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SPATA18
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPATA18
- GenScript: Design CRISPR guide RNA sequences for SPATA18
miRNA Products
- Search ViGene Biosciences for SPATA18
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for SPATA18
- Browse OriGene Inhibitory RNA Products For SPATA18
-
ViGene Biosciences ready-to-package AAV shRNAs for SPATA18 gene
Clone Products
-
OriGene ORF clones in human for SPATA18
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SPATA18
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPATA18
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
Expression for SPATA18 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for SPATA18 Gene
This gene is overexpressed in Testis (x11.8).
This gene is overexpressed in Nasal epithelium (63.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA18 Gene
NURSA nuclear receptor signaling pathways regulating expression of SPATA18 Gene:
SPATA18SOURCE GeneReport for Unigene cluster for SPATA18 Gene:
Hs.527090Primer Products
-
OriGene qPCR primer pairs for SPATA18
-
OriGene qPCR primer pairs and template standards for SPATA18
No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA18 Gene
Orthologs for SPATA18 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPATA18 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SPATA18 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SPATA18 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Spata18 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Spata18 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SPATA18 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SPATA18 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SPATA18 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SPATA18 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | spata18 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | spata18 34 35 |
|
||
| Dr.13864 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4160 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3999 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1722 34 |
|
- Species where no ortholog for SPATA18 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SPATA18 Gene
No data available for Paralogs for SPATA18 Gene
Variants for SPATA18 Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs193921037 | Uncertain significance | 52,077,011(+) | AGACC(A/C/G)TTCAG | nc-transcript-variant, reference, missense | |
| rs1000032921 | -- | 52,083,732(+) | GAGTA(A/G)GATCC | intron-variant | |
| rs10000556 | -- | 52,085,278(+) | TATTA(G/T)AGATC | intron-variant | |
| rs1000083111 | -- | 52,085,093(+) | ATAAG(A/T)CTACA | intron-variant | |
| rs1000092787 | -- | 52,063,955(+) | CAGCA(C/T)CAGTA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2984e59 | CNV | tandem duplication | 20981092 |
| esv1364839 | CNV | insertion | 17803354 |
| esv3354585 | CNV | duplication | 20981092 |
| esv7897 | CNV | gain | 19470904 |
| nsv1143088 | CNV | tandem duplication | 24896259 |
| nsv594201 | CNV | loss | 21841781 |
| nsv829932 | CNV | gain | 17160897 |
| nsv829933 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
92.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.35;
53.76% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SPATA18 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SPATA18
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA18 Gene
Disorders for SPATA18 Gene
Relevant External Links for SPATA18
No disorders were found for SPATA18 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPATA18 Gene
Publications for SPATA18 Gene
- SPATA18, a spermatogenesis-associated gene, is a novel transcriptional target of p53 and p63. (PMID: 21300779) Bornstein C. … Rotter V. (Mol. Cell. Biol. 2011) 2 3 4 64
- BNIP3 and NIX mediate Mieap-induced accumulation of lysosomal proteins within mitochondria. (PMID: 22292033) Nakamura Y. … Arakawa H. (PLoS ONE 2012) 3 4 64
- Possible existence of lysosome-like organella within mitochondria and its role in mitochondrial quality control. (PMID: 21264221) Miyamoto Y. … Arakawa H. (PLoS ONE 2011) 3 4 64
- Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria. (PMID: 21264228) Kitamura N. … Arakawa H. (PLoS ONE 2011) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
Products for SPATA18 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for SPATA18 gene
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- Custom Antibody ServicesProSci Antibodies for SPATA18
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- Horizon Cell Lines for SPATA18
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPATA18
- VectorBuilder custom plasmid, inducible vectors for SPATA18
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPATA18
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for SPATA18 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
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