Aliases for SIGLEC12 Gene
Aliases for SIGLEC12 Gene
External Ids for SIGLEC12 Gene
- HGNC: 15482
- Entrez Gene: 89858
- Ensembl: ENSG00000254521
- OMIM: 606094
- UniProtKB: Q96PQ1
Previous HGNC Symbols for SIGLEC12 Gene
- SIGLECL1
Previous GeneCards Identifiers for SIGLEC12 Gene
- GC19M056687
- GC19M051913
- GC19M051994
Summaries for SIGLEC12 Gene
-
Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for SIGLEC12 Gene
SIGLEC12 (Sialic Acid Binding Ig Like Lectin 12 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with SIGLEC12 include Mucocele Of Salivary Gland and Non-Invasive Bladder Papillary Urothelial Neoplasm. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Innate Immune System. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SIGLEC7.
UniProtKB/Swiss-Prot for SIGLEC12 Gene
-
Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.
Additional gene information for SIGLEC12 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIGLEC12 Gene
Genomics for SIGLEC12 Gene
GeneHancer (GH) Regulatory Elements for SIGLEC12 Gene
Promoters and enhancers for SIGLEC12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SIGLEC12 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SIGLEC12 Gene
Genomic Locations for SIGLEC12 Gene
- chr19:51,491,227-51,501,789
- (GRCh38/hg38)
- Size:
- 10,563 bases
- Orientation:
- Minus strand
- chr19:51,994,611-52,005,043
- (GRCh37/hg19)
Genomic View for SIGLEC12 Gene
Genes around SIGLEC12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.41 by Entrez Gene
- 19q13.41 by HGNC
- 19q13.41 by Ensembl
SIGLEC12 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 SIGLEC12 Gene
Proteins for SIGLEC12 Gene
-
Protein details for SIGLEC12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96PQ1-SIG12_HUMAN
- Recommended name:
- Sialic acid-binding Ig-like lectin 12
- Protein Accession:
- Q96PQ1
- Q8IYH7
Protein attributes for SIGLEC12 Gene
- Size:
- 595 amino acids
- Molecular mass:
- 64984 Da
- Quaternary structure:
- No Data Available
Protein Expression for SIGLEC12 Gene
Post-translational modifications for SIGLEC12 Gene
Other Protein References for SIGLEC12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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Protein Products
-
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Assay Products
No data available for DME Specific Peptides for SIGLEC12 Gene
Domains & Families for SIGLEC12 Gene
Gene Families for SIGLEC12 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for SIGLEC12 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SIGLEC12 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96PQ1UniProtKB/Swiss-Prot:
SIG12_HUMAN :- Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
- Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
- Domain:
-
- Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
- Family:
-
- Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Function for SIGLEC12 Gene
Molecular function for SIGLEC12 Gene
- UniProtKB/Swiss-Prot Function:
- Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.
Phenotypes From GWAS Catalog for SIGLEC12 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030246 | carbohydrate binding | IEA | -- |
Phenotypes for SIGLEC12 Gene
Animal Model Products
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-
CRISPR Products
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miRNA for SIGLEC12 Gene
- miRTarBase miRNAs that target SIGLEC12
-
- hsa-mir-3911 (MIRT531178)
- hsa-mir-4697-5p (MIRT531179)
- hsa-mir-4488 (MIRT531180)
- hsa-mir-1237-5p (MIRT531181)
- hsa-mir-6816-5p (MIRT531182)
- hsa-mir-3196 (MIRT531183)
- hsa-mir-3180-3p (MIRT531184)
- hsa-mir-3180 (MIRT531185)
- hsa-mir-6787-5p (MIRT531186)
- hsa-mir-663a (MIRT531187)
- hsa-mir-1908-5p (MIRT531188)
- hsa-mir-122-5p (MIRT531189)
- hsa-mir-4749-5p (MIRT531190)
- hsa-mir-4706 (MIRT531191)
- hsa-mir-574-5p (MIRT531192)
- hsa-mir-6089 (MIRT531193)
- hsa-mir-6889-5p (MIRT531194)
- hsa-mir-6777-5p (MIRT531195)
miRNA Products
Inhibitory RNA Products
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- Overview of 53 available SIGLEC12 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SIGLEC12
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-
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- 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
- Addgene plasmids for SIGLEC12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SIGLEC12
- Applied Biological Materials Clones for SIGLEC12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for SIGLEC12 (Siglec-12)
Cell Line Products
-
Horizon Cell Lines for SIGLEC12
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SIGLEC12 Gene
Localization for SIGLEC12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SIGLEC12 Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 1 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIGLEC12 Gene
Pathways & Interactions for SIGLEC12 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | ||
Pathways by source for SIGLEC12 Gene
3 Reactome pathways for SIGLEC12 Gene
Interacting Proteins for SIGLEC12 Gene
GPS-Prot Interaction Network for SIGLEC12
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | IEA | -- |
No data available for SIGNOR curated interactions for SIGLEC12 Gene
Transcripts for SIGLEC12 Gene
mRNA/cDNA for SIGLEC12 Gene
- (9) Selected AceView cDNA sequences:
- (5) Additional mRNA sequences :
- (4) REFSEQ mRNAs :
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000291707 2121 bps (uc002pwx.3)
- ENST00000596742 1791 bps (uc061bxt.1)
- ENST00000598614 1434 bps (uc002pww.3)
Unigene Clusters for SIGLEC12 Gene
- Sialic acid binding Ig-like lectin 12 (gene/pseudogene):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SIGLEC12
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- genomics-online: gRNA clones - Search results for 53 available SIGLEC12 gene related products
- Overview of 53 available SIGLEC12 gene related products
- Applied Biological Materials CRISPR for SIGLEC12
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SIGLEC12
- GenScript: Design CRISPR guide RNA sequences for SIGLEC12
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SIGLEC12
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- Overview of 53 available SIGLEC12 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SIGLEC12
- VectorBuilder custom plasmid, inducible vectors for SIGLEC12
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SIGLEC12
-
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
- Addgene plasmids for SIGLEC12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SIGLEC12
- Applied Biological Materials Clones for SIGLEC12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for SIGLEC12 (Siglec-12)
Expression for SIGLEC12 Gene
mRNA differential expression in normal tissues according to GTEx for SIGLEC12 Gene
This gene is overexpressed in Spleen (x28.0) and Whole Blood (x5.9).
This gene is overexpressed in Urinary Bladder (58.2) and CD4 Tcells (10.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SIGLEC12 Gene
NURSA nuclear receptor signaling pathways regulating expression of SIGLEC12 Gene:
SIGLEC12SOURCE GeneReport for Unigene cluster for SIGLEC12 Gene:
Hs.249741mRNA Expression by UniProt/SwissProt for SIGLEC12 Gene:
Q96PQ1-SIG12_HUMAN
Tissue specificity:
Isoform Short is highly expressed in spleen, small intestine and adrenal gland; it is lower expressed in thyroid, placenta, brain, stomach, bone marrow, spinal chord and breast. Isoform Long is highly expressed in spleen, small intestine and bone marrow; it is lower expressed in thyroid, placenta, thymus, trachea, stomach, lung, adrenal gland, fetal brain and testis.
Evidence on tissue expression from TISSUES for SIGLEC12 Gene
- Blood(4.3)
- Bone marrow(4.2)
Primer Products
-
OriGene qPCR primer pairs for SIGLEC12
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- Overview of 53 available SIGLEC12 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIGLEC12 Gene
Orthologs for SIGLEC12 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | -- 34 |
|
ManyToMany | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Siglece 34 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
ManyToMany |
- Species where no ortholog for SIGLEC12 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)
- chicken (Gallus gallus)
- 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)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for SIGLEC12 Gene
- ENSEMBL:
- Gene Tree for SIGLEC12 (if available)
- TreeFam:
- Gene Tree for SIGLEC12 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SIGLEC12: view image
Paralogs for SIGLEC12 Gene
Paralogs for SIGLEC12 Gene
(8) SIMAP similar genes for SIGLEC12 Gene using alignment to 2 proteins:
- SIG12_HUMAN
- M0QYF3_HUMAN
Pseudogenes.org Pseudogenes for SIGLEC12 Gene
Variants for SIGLEC12 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs66949844 | benign, not specified | 51,501,538(-) | CCC/CCCC | coding_sequence_variant, frameshift, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs1000022309 | -- | 51,499,615(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1000159951 | -- | 51,492,717(-) | T/G | genic_downstream_transcript_variant, intron_variant | |
| rs1000461322 | -- | 51,502,703(-) | C/T | upstream_transcript_variant | |
| rs1000622458 | -- | 51,491,334(-) | A/C | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758767 | CNV | gain+loss | 17122850 |
| esv33175 | CNV | gain | 17666407 |
| nsv1140251 | OTHER | inversion | 24896259 |
| nsv469584 | CNV | loss | 16826518 |
Residual Variation Intolerance Score:
97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.53;
91.15% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SIGLEC12 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIGLEC12 Gene
Disorders for SIGLEC12 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mucocele of salivary gland |
|
|
| non-invasive bladder papillary urothelial neoplasm |
|
|
| salivary gland disease |
|
|
| bile duct cysts |
|
|
| gastric tubular adenocarcinoma |
|
|
Search SIGLEC12 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SIGLEC12
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for SIGLEC12 Gene
Publications for SIGLEC12 Gene
- Cloning and molecular characterization of two splice variants of a new putative member of the Siglec-3-like subgroup of Siglecs. (PMID: 11409877) Foussias G … Diamandis EP (Biochemical and biophysical research communications 2001) 2 3 4 22 58
- SIGLEC12, a human-specific segregating (pseudo)gene, encodes a signaling molecule expressed in prostate carcinomas. (PMID: 21555517) Mitra N … Varki A (The Journal of biological chemistry 2011) 2 3 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
Products for SIGLEC12 Gene
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- VectorBuilder custom plasmid, inducible vectors for SIGLEC12
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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
- Addgene plasmids for SIGLEC12
- antibodies-online: Search results for 51 available SIGLEC12 Antibodies ranked by validation data
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- Quality Products:
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- antibodies-online: Search results for 15 available SIGLEC12 Proteins ranked by validation data
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- Quality Products:
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- Horizon Cell Lines for SIGLEC12
- genomics-online: cdna clones - Search results for 53 available SIGLEC12 gene related products
- Overview of 53 available SIGLEC12 gene related products
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- genomics-online: gRNA clones - Search results for 53 available SIGLEC12 gene related products
- Overview of 53 available SIGLEC12 gene related products
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Sources for SIGLEC12 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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
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