Aliases for WDR62 Gene
Aliases for WDR62 Gene
External Ids for WDR62 Gene
- HGNC: 24502
- Entrez Gene: 284403
- Ensembl: ENSG00000075702
- OMIM: 613583
- UniProtKB: O43379
Previous HGNC Symbols for WDR62 Gene
- C19orf14
- MCPH2
Previous GeneCards Identifiers for WDR62 Gene
- GC19P041240
- GC19P036545
- GC19P033051
Summaries for WDR62 Gene
-
This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
GeneCards Summary for WDR62 Gene
WDR62 (WD Repeat Domain 62) is a Protein Coding gene. Diseases associated with WDR62 include Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations and Autosomal Recessive Primary Microcephaly. An important paralog of this gene is MAPKBP1.
UniProtKB/Swiss-Prot for WDR62 Gene
-
Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR62 Gene
Genomics for WDR62 Gene
Regulatory Elements for WDR62 Gene
Enhancers for WDR62 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around WDR62 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for WDR62 Gene
- Chromosome:
- 19
- Start:
- 36,054,881 bp from pter
- End:
- 36,105,111 bp from pter
- Size:
- 50,231 bases
- Orientation:
- Plus strand
Genomic View for WDR62 Gene
Genes around WDR62 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.12 by Ensembl
- 19q13.12 by Entrez Gene
- 19q13.12 by HGNC
WDR62 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 WDR62 Gene
Proteins for WDR62 Gene
-
Protein details for WDR62 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43379-WDR62_HUMAN
- Recommended name:
- WD repeat-containing protein 62
- Protein Accession:
- O43379
- Q63HP9
- Q659D7
- Q8NBF7
- Q96AD9
Protein attributes for WDR62 Gene
- Size:
- 1518 amino acids
- Molecular mass:
- 165954 Da
- Quaternary structure:
-
- Interacts with CDK5RAP2, CEP152, CEP63 and KIAA0753 (PubMed:26297806). CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:26297806).
- SequenceCaution:
-
- Sequence=AAC27979.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH17261.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for WDR62 Gene
Selected DME Specific Peptides for WDR62 Gene
- O43379:
-
- QCLVKSP
- LPPSPLE
Post-translational modifications for WDR62 Gene
Other Protein References for WDR62 Gene
Antibody Products
- Novus Biologicals Antibodies for WDR62
- Invitrogen Antibodies for WDR62
- antibodies-online Antibodies for WDR62: See all 6
- Search GeneTex for Antibodies for WDR62
-
Santa Cruz Biotechnology (SCBT) Antibodies for WDR62
Protein Products
-
OriGene Purified Proteins for WDR62
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- Novus Biologicals proteins for WDR62
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Assay Products
Domains & Families for WDR62 Gene
Gene Families for WDR62 Gene
Protein Domains for WDR62 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for WDR62 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for WDR62 Gene
Function for WDR62 Gene
Molecular function for WDR62 Gene
- UniProtKB/Swiss-Prot Function:
- Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).
Enzyme Numbers (IUBMB) for WDR62 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for WDR62 Gene
- MGI mutant phenotypes for WDR62:
- inferred from 2 alleles
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for WDR62 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for WDR62 gene
- Search ViGene Biosciences for WDR62
CRISPR Products
-
OriGene CRISPR knockouts for WDR62
-
Santa Cruz Biotechnology (SCBT) CRISPR for WDR62
- GenScript: Design CRISPR guide RNA sequences for WDR62
miRNA for WDR62 Gene
- miRTarBase miRNAs that target WDR62
miRNA Products
- Search ViGene Biosciences for WDR62
Inhibitory RNA Products
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-
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Cell Line Products
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Horizon Cell Lines for WDR62
-
ViGene Biosciences adenoviral particle packaged cDNA for WDR62 gene
-
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-
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Flow Cytometry Products
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for WDR62 Gene
Localization for WDR62 Gene
Subcellular locations from UniProtKB/Swiss-Prot for WDR62 Gene
- Nucleus. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis. Colocalizes with CDK5RAP2, CEP152 and WDR62 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. {ECO:0000269 PubMed:20890278, ECO:0000269 PubMed:26297806}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IDA | 20890278 |
| GO:0005634 | nucleus | IDA,IEA | 20729831 |
| GO:0005682 | U5 snRNP | IBA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | IDA | 26297806 |
Pathways & Interactions for WDR62 Gene
No Data Available
Interacting Proteins for WDR62 Gene
Selected Interacting proteins:
ENSP00000384792
O43379-WDR62_HUMAN
for WDR62 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007052 | mitotic spindle organization | IMP | 24388750 |
| GO:0007099 | centriole replication | IMP | 26297806 |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0008380 | RNA splicing | IBA | -- |
| GO:0021987 | cerebral cortex development | IMP | 20729831 |
No data available for Pathways by source and SIGNOR curated interactions for WDR62 Gene
Transcripts for WDR62 Gene
mRNA/cDNA for WDR62 Gene
- (12) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (102) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for WDR62 Gene
- WD repeat domain 62:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for WDR62
-
Santa Cruz Biotechnology (SCBT) CRISPR for WDR62
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miRNA Products
- Search ViGene Biosciences for WDR62
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for WDR62
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-
ViGene Biosciences ready-to-package AAV shRNAs for WDR62 gene
Clone Products
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - |
| ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||
| SP8: |
Expression for WDR62 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
- Neural Tube (Nervous System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for WDR62 Gene
This gene is overexpressed in Testis (x24.5), Heart - Left Ventricle (x4.5), and Muscle - Skeletal (x4.0).
This gene is overexpressed in Testis (34.0), Ovary (21.4), and Plasma (13.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR62 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of WDR62 Gene:
WDR62SOURCE GeneReport for Unigene cluster for WDR62 Gene:
Hs.116244mRNA Expression by UniProt/SwissProt for WDR62 Gene:
O43379-WDR62_HUMAN
Tissue specificity:
Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells.
Evidence on tissue expression from TISSUES for WDR62 Gene
- Muscle(4.1)
- Nervous system(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR62 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
Pelvis:
- pelvis
- ureter
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for WDR62
Orthologs for WDR62 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | WDR62 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | WDR62 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | WDR62 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Wdr62 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Wdr62 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | WDR62 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | WDR62 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | WDR62 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | wdr62 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | wdr62 34 |
|
||
| WDR62 35 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7337 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | H24G06.1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for WDR62 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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)
Paralogs for WDR62 Gene
(3) SIMAP similar genes for WDR62 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for WDR62 Gene
Variants for WDR62 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs147875659 | other, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] | 36,084,678(+) | TGGAC(A/G)AGCTG | nc-transcript-variant, reference, missense | |
| rs267607176 | Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] | 36,067,415(+) | GTTCT(C/G)GTTCT | nc-transcript-variant, reference, missense | |
| rs387907082 | Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] | 36,081,512(+) | CATTC(A/G)CTTCT | nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| rs387907083 | Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] | 36,083,222(+) | CAGGC(A/G)ACCGA | intron-variant, nc-transcript-variant, reference, missense | |
| rs387907084 | Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] | 36,058,795(+) | AGAAG(A/G)TGCTT | nc-transcript-variant, reference, missense |
Residual Variation Intolerance Score:
45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.65;
65.70% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for WDR62 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR62 Gene
Disorders for WDR62 Gene
(12) MalaCards diseases for WDR62 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
|
|
| autosomal recessive primary microcephaly |
|
|
| microcephaly, cortical malformations, and mental retardation |
|
|
| primary autosomal recessive microcephaly type 2 |
|
|
| second-degree atrioventricular block |
|
|
Search WDR62 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
WDR62_HUMAN- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]: A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures. {ECO:0000269 PubMed:20729831, ECO:0000269 PubMed:20890278, ECO:0000269 PubMed:20890279, ECO:0000269 PubMed:21496009}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for WDR62
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- WDR62
No data available for Genatlas for WDR62 Gene
Publications for WDR62 Gene
- Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. (PMID: 21496009) Bhat V. … Kumar A. (Clin. Genet. 2011) 2 3 4 64
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. (PMID: 20729831) Bilguvar K. … Gunel M. (Nature 2010) 2 3 4 64
- Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (PMID: 20890278) Yu T.W. … Walsh C.A. (Nat. Genet. 2010) 2 3 4 64
- Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A. … Reiter J.F. (Elife 2015) 3 4 64
- A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation. (PMID: 19910486) Wasserman T. … Aronheim A. (Mol. Biol. Cell 2010) 2 3 64
Products for WDR62 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for WDR62 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for WDR62
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- VectorBuilder custom plasmid, inducible vectors for WDR62
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- Mammalian expression: PiggyBac
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- 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 WDR62 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
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
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