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The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and i... See more...
Aliases for NNAT Gene
External Ids for NNAT Gene
- HGNC: 7860
- Entrez Gene: 4826
- Ensembl: ENSG00000053438
- OMIM: 603106
- UniProtKB: Q16517
Previous GeneCards Identifiers for NNAT Gene
- GC20P035878
- GC20P035838
- GC20P036788
- GC20P036835
- GC20P035583
- GC20P036149
- GC20P032885
Summaries for NNAT Gene
-
The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]
GeneCards Summary for NNAT Gene
NNAT (Neuronatin) is a Protein Coding gene. Diseases associated with NNAT include Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 and Myopathy, Centronuclear, 6, With Fiber-Type Disproportion.
UniProtKB/Swiss-Prot Summary for NNAT Gene
-
May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels.
Additional gene information for NNAT Gene
- HGNC(7860)
- Entrez Gene(4826)
- Ensembl(ENSG00000053438)
- OMIM(603106)
- UniProtKB(Q16517)
- Open Targets Platform(ENSG00000053438)
- Monarch Initiative
- Search for NNAT at DataMed
- Search for NNAT at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NNAT Gene
Genomics for NNAT Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NNAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NNAT on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NNAT
- Top Transcription factor binding sites by QIAGEN in the NNAT gene promoter:
-
- C/EBPalpha
- CREB
- deltaCREB
- E2F
- E2F-1
Genomic Locations for NNAT Gene
Genomic Locations for NNAT Gene
- chr20:37,521,206-37,523,690
- (GRCh38/hg38)
- Size:
- 2,485 bases
- Orientation:
- Plus strand
- chr20:36,149,607-36,152,092
- (GRCh37/hg19)
- Size:
- 2,486 bases
- Orientation:
- Plus strand
Genomic View for NNAT Gene
Genes around NNAT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.23 by HGNC
- 20q11.23 by Entrez Gene
- 20q11.23 by Ensembl
NNAT 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 NNAT Gene
Proteins for NNAT Gene
-
Protein details for NNAT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16517-NNAT_HUMAN
- Recommended name:
- Neuronatin
- Protein Accession:
- Q16517
- B2R558
- E1P5V6
- Q16596
- Q5U0N3
Protein attributes for NNAT Gene
- Size:
- 81 amino acids
- Molecular mass:
- 9237 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for NNAT Gene
Other Protein References for NNAT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for NNAT
- Novus Biologicals Antibodies for NNAT
-
Abcam antibodies for NNAT
- Invitrogen Antibodies for NNAT (AFLGC-NNAT)
-
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Protein Products
-
OriGene Purified Proteins for NNAT
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-
Abcam proteins for NNAT
No data available for DME Specific Peptides for NNAT Gene
Domains & Families for NNAT Gene
Gene Families for NNAT Gene
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for NNAT Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NNAT Gene
- GenScript: Design optimal peptide antigens:
-
- Neuronatin (NNAT_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q16517- Family:
-
- Belongs to the neuronatin family.
Function for NNAT Gene
Molecular function for NNAT Gene
- UniProtKB/Swiss-Prot Function:
- May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels.
Phenotypes From GWAS Catalog for NNAT Gene
Phenotypes for NNAT Gene
- MGI mutant phenotypes for NNAT:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for NNAT:
Animal Models for NNAT Gene
- MGI Knock Outs for NNAT:
-
- Nnat Nnat<tm1Lex>
Animal Model Products
-
Taconic Biosciences Mouse Models for NNAT
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NNAT - Select products 50% OFF >
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-
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-
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miRNA for NNAT Gene
- miRTarBase miRNAs that target NNAT
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for NNAT - Select products 50% OFF >
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-
- MG200149
- MG223604
- MR200149
- MR200149L1
- MR200149L2
- MR200149L3
- MR200149L4
- MR223604
- MR223604L3
- MR223604L4
- MR227703
- MR227979
- MR228008
- RC200328
- RC200328L1
- RC200328L2
- RC200328L3
- RC200328L4
- RC224696
- RC224696L1
- RC224696L2
- RC224696L3
- RC224696L4
- RG200328
- RG224696
- RR200241
- RR200241L3
- RR200241L4
- RR200242
- RR200242L3
- RR200242L4
- RR215715
- MR200149L1V
- MR200149L2V
- MR200149L3V
- MR200149L4V
- MR223604L3V
- MR223604L4V
- RC200328L1V
- RC200328L2V
- RC200328L3V
- RC200328L4V
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- RC224696L3V
- RC224696L4V
- RR200241L3V
- RR200241L4V
- RR200242L3V
- RR200242L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NNAT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NNAT
Cell Line Products
-
Horizon Cell Lines for NNAT
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NNAT Gene
Localization for NNAT Gene
| Compartment | Confidence |
|---|---|
| extracellular | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for NNAT Gene
Pathways & Interactions for NNAT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007420 | brain development | IEA,IBA | 21873635 |
| GO:0009249 | protein lipoylation | TAS | 8813377 |
| GO:0030182 | neuron differentiation | IEA | -- |
| GO:0032024 | positive regulation of insulin secretion | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for NNAT Gene
Transcripts for NNAT Gene
mRNA/cDNA for NNAT Gene
- 3 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000346199 1222 nts (view in UCSC)
- ENST00000647955 998 nts (view in UCSC)
- ENST00000649309 895 nts (view in UCSC)
- ENST00000649451 1259 nts (view in UCSC)
- ENST00000649697 526 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NNAT - Select products 50% OFF >
- * NNAT CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NNAT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NNAT
-
Santa Cruz Biotechnology (SCBT) CRISPR for NNAT
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NNAT
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NNAT
Clone Products
- Applied Biological Materials (abm): Clones for NNAT - Select products 50% OFF >
- * NNAT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG200149
- MG223604
- MR200149
- MR200149L1
- MR200149L2
- MR200149L3
- MR200149L4
- MR223604
- MR223604L3
- MR223604L4
- MR227703
- MR227979
- MR228008
- RC200328
- RC200328L1
- RC200328L2
- RC200328L3
- RC200328L4
- RC224696
- RC224696L1
- RC224696L2
- RC224696L3
- RC224696L4
- RG200328
- RG224696
- RR200241
- RR200241L3
- RR200241L4
- RR200242
- RR200242L3
- RR200242L4
- RR215715
- MR200149L1V
- MR200149L2V
- MR200149L3V
- MR200149L4V
- MR223604L3V
- MR223604L4V
- RC200328L1V
- RC200328L2V
- RC200328L3V
- RC200328L4V
- RC224696L1V
- RC224696L2V
- RC224696L3V
- RC224696L4V
- RR200241L3V
- RR200241L4V
- RR200242L3V
- RR200242L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NNAT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NNAT
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||
| SP2: | - | - | |||||||||||
| SP3: | - |
Relevant External Links for NNAT Gene
- GeneLoc Exon Structure for
- NNAT
Expression for NNAT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
- Inner Cell Mass (Early Embryonic Tissues)
- Epiblast (Early Embryonic Tissues)
-
Limb (Muscoskeletal System)
- Limb Bud Mesenchyme Cells Limb Bud
- Mesenchymal Condensate Cells Zeugopod
- Limb Bud
-
Eye (Sensory Organs)
- Cholinergic Amacrine Cells Inner Nuclear Layer
- Retina
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Adipose (Muscoskeletal System)
-
Neurons
- Cholinergic Amacrine Cells Inner Nuclear Layer
-
Gonad
- Primordial Germ Cell Precursors Epiblast
-
Ovary (Reproductive System)
- Granulosa Cells Primary Follicle
-
Mesoderm (Gastrulation Derivatives)
- Limb Bud Mesenchyme Cells Limb Bud
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
mRNA differential expression in normal tissues according to GTEx for NNAT Gene
This gene is overexpressed in Pituitary (x16.5), Brain - Nucleus accumbens (basal ganglia) (x8.4), Brain - Caudate (basal ganglia) (x4.8), and Brain - Putamen (basal ganglia) (x4.6).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NNAT
SOURCE GeneReport for Unigene cluster for NNAT Gene:
Hs.504703Evidence on tissue expression from TISSUES for NNAT Gene
- Nervous system(4.9)
- Eye(4.6)
- Liver(2.3)
- Skin(2.2)
- Muscle(2.2)
- Kidney(2.2)
- Blood(2.1)
- Heart(2.1)
- Pancreas(2.1)
- Adrenal gland(2.1)
- Intestine(2.1)
Primer Products
-
OriGene qPCR primer pairs for NNAT
-
OriGene qPCR primer pairs and template standards for NNAT
Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NNAT Gene
Orthologs for NNAT Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NNAT 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NNAT 31 |
|
OneToOne | |
| LOC609195 30 |
|
||||
| Mouse (Mus musculus) |
Mammalia | Nnat 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nnat 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | NNAT 30 31 |
|
OneToOne |
- Species where no ortholog for NNAT was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 NNAT Gene
- ENSEMBL:
- Gene Tree for NNAT (if available)
- TreeFam:
- Gene Tree for NNAT (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NNAT: view image
Paralogs for NNAT Gene
No data available for Paralogs for NNAT Gene
Variants for NNAT Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1055206 | CNV | loss | 25217958 |
| nsv585962 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.03;
0.71% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NNAT Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- NNAT
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NNAT Gene
Disorders for NNAT Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| megalencephalic leukoencephalopathy with subcortical cysts 1 |
|
|
| myopathy, centronuclear, 6, with fiber-type disproportion |
|
|
| myoclonic epilepsy of lafora |
|
|
| transient neonatal diabetes mellitus |
|
|
| silver-russell syndrome 1 |
|
|
Search NNAT in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NNAT
No data available for UniProtKB/Swiss-Prot and Genatlas for NNAT Gene
Publications for NNAT Gene
- Structure and organization of the human neuronatin gene. (PMID: 8660979) Dou D … Joseph R (Genomics 1996) 2 3 4 23
- cDNA cloning and mRNA expression analysis of the human neuronatin. High level expression in human pituitary gland and pituitary adenomas. (PMID: 9356927) Usui H … Kumanishi T (Journal of molecular neuroscience : MN 1997) 3 4 23
- Cloning of human neuronatin gene and its localization to chromosome-20q 11.2-12: the deduced protein is a novel "proteolipid'. (PMID: 8813377) Dou D … Joseph R (Brain research 1996) 3 4 23
- Neuronatin is a stress-responsive protein of rod photoreceptors. (PMID: 27109921) Shinde V … Gorbatyuk M (Neuroscience 2016) 2 3
- Loss of neuronatin expression is associated with promoter hypermethylation in pituitary adenoma. (PMID: 19218280) Revill K … Farrell WE (Endocrine-related cancer 2009) 3 23
ExternalLinks
Products for NNAT Gene
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- OriGene qPCR primer pairs for NNAT
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- OriGene CRISPR knockouts for NNAT
- MG200149
- MG223604
- MR200149
- MR200149L1
- MR200149L2
- MR200149L3
- MR200149L4
- MR223604
- MR223604L3
- MR223604L4
- MR227703
- MR227979
- MR228008
- RC200328
- RC200328L1
- RC200328L2
- RC200328L3
- RC200328L4
- RC224696
- RC224696L1
- RC224696L2
- RC224696L3
- RC224696L4
- RG200328
- RG224696
- RR200241
- RR200241L3
- RR200241L4
- RR200242
- RR200242L3
- RR200242L4
- RR215715
- MR200149L1V
- MR200149L2V
- MR200149L3V
- MR200149L4V
- MR223604L3V
- MR223604L4V
- RC200328L1V
- RC200328L2V
- RC200328L3V
- RC200328L4V
- RC224696L1V
- RC224696L2V
- RC224696L3V
- RC224696L4V
- RR200241L3V
- RR200241L4V
- RR200242L3V
- RR200242L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NNAT
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- Browse Antibodies
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- Taconic Biosciences Mouse Models for NNAT
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- Genetically Engineered Models Available Immediately
- Humanized Mice
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- antibodies-online: Show 3 available NNAT Antibodies ranked by validation data
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- antibodies-online: Show 8 available NNAT Proteins ranked by validation data
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- Biorbyt antibodies for NNAT
Sources for NNAT Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
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