Aliases for AFDN Gene
Aliases for AFDN Gene
External Ids for AFDN Gene
- HGNC: 7137
- Entrez Gene: 4301
- Ensembl: ENSG00000130396
- OMIM: 159559
- UniProtKB: P55196
Previous HGNC Symbols for AFDN Gene
- MLLT4
Summaries for AFDN Gene
-
This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
GeneCards Summary for AFDN Gene
AFDN (Afadin, Adherens Junction Formation Factor) is a Protein Coding gene. Diseases associated with AFDN include Central Nervous System Leukemia and Cleft Lip/Palate-Ectodermal Dysplasia Syndrome. Among its related pathways are Cytoskeletal Signaling and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. An important paralog of this gene is PPP1R9A.
UniProtKB/Swiss-Prot for AFDN Gene
-
Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFDN Gene
Genomics for AFDN Gene
GeneHancer (GH) Regulatory Elements for AFDN Gene
Promoters and enhancers for AFDN 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 AFDN on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for AFDN Gene
Genomic Locations for AFDN Gene
- chr6:167,826,922-167,972,023
- (GRCh38/hg38)
- Size:
- 145,102 bases
- Orientation:
- Plus strand
- chr6:168,227,602-168,372,703
- (GRCh37/hg19)
- Size:
- 145,102 bases
- Orientation:
- Plus strand
Genomic View for AFDN Gene
Genes around AFDN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q27 by Entrez Gene
- 6q27 by HGNC
- 6q27 by Ensembl
AFDN 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 AFDN Gene
Proteins for AFDN Gene
-
Protein details for AFDN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P55196-AFAD_HUMAN
- Recommended name:
- Afadin
- Protein Accession:
- P55196
- O75087
- O75088
- O75089
- Q59FP0
- Q5TIG6
- Q5TIG7
- Q9NSN7
- Q9NU92
Protein attributes for AFDN Gene
- Size:
- 1824 amino acids
- Molecular mass:
- 206804 Da
- Quaternary structure:
-
- Homodimer. Interacts with F-actin, nectin and NECTIN3. Essential for the association of nectin and E-cadherin. Isoform 1/s-afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in an indirect manner. Interacts with RIT1 and RIT2 (By similarity). Interacts with NRXN1 and BCR.
- SequenceCaution:
-
- Sequence=CAB82312.1; Type=Frameshift; Positions=1509, 1512, 1701; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for AFDN Gene
Post-translational modifications for AFDN Gene
Other Protein References for AFDN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for AFDN (Afadin/AF-6)
-
Custom Antibody ServicesOriGene Antibodies for AFDN
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-
Abcam antibodies for AFDN
- Invitrogen Antibodies for AFDN (AFLGC-AFDN)
- antibodies-online: Search results for 41 available MLLT4 Antibodies ranked by validation data
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Recommended
- 26 WB Antibodies (anti-human)
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- 1 IF Antibody (anti-human)
- 11 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 26 WB Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 11 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- GeneTex Afdn Antibody for AFDN
-
Boster Bio Antibodies for AFDN
Protein Products
-
OriGene Purified Proteins for AFDN
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- Search GeneTex for Proteins for AFDN
-
Abcam proteins for AFDN
Assay Products
No data available for DME Specific Peptides for AFDN Gene
Domains & Families for AFDN Gene
Gene Families for AFDN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for AFDN Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AFDN Gene
- GenScript: Design optimal peptide antigens:
-
- ALL1-fused gene from chromosome 6 protein (AFAD_HUMAN)
- Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q5JPV5_HUMAN)
- Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q5TIH0_HUMAN)
- Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q5TIH1_HUMAN)
- Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q96C95_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P55196UniProtKB/Swiss-Prot:
AFAD_HUMAN :- The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.
- Domain:
-
- The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.
Function for AFDN Gene
Molecular function for AFDN Gene
- UniProtKB/Swiss-Prot Function:
- Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 10225955 |
| GO:0008022 | protein C-terminus binding | TAS | 10856295 |
| GO:0017016 | Ras GTPase binding | IDA | 23885123 |
| GO:0045296 | cadherin binding | IDA | 25468996 |
| GO:0050839 | cell adhesion molecule binding | IEA,IBA | -- |
Phenotypes for AFDN Gene
- MGI mutant phenotypes for AFDN:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for AFDN:
-
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased ionizing radiation sensitivity
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for AFDN Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for AFDN
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-
Vectors and viruses for KO, Activation, Repression, and more
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miRNA for AFDN Gene
- miRTarBase miRNAs that target AFDN
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for AFDN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AFDN
- genomics-online: cdna clones - Search results for available MLLT4 gene related products
- orf clones - Search results for available MLLT4 gene related products
- Applied Biological Materials Clones for AFDN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AFDN
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AFDN Gene
Localization for AFDN Gene
Subcellular locations from UniProtKB/Swiss-Prot for AFDN Gene
- Cell junction, adherens junction. Note=Not found at cell-matrix AJs.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| extracellular | 1 |
- Cell Junctions (4)
- Plasma membrane (4)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0005911 | cell-cell junction | TAS,IEA | 10856295 |
Pathways & Interactions for AFDN Gene
Pathways by source for AFDN Gene
4 Reactome pathways for AFDN Gene
6 KEGG pathways for AFDN Gene
3 GeneGo (Thomson Reuters) pathways for AFDN Gene
6 R&D Systems pathways for AFDN Gene
- Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview
- Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways
5 Qiagen pathways for AFDN Gene
2 Cell Signaling Technology pathways for AFDN Gene
Interacting Proteins for AFDN Gene
Selected Interacting proteins:
P55196-AFAD_HUMAN
ENSP00000375956
for AFDN Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for AFDN
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | TAS,IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007267 | cell-cell signaling | TAS | 8242616 |
| GO:0021537 | telencephalon development | IEA | -- |
| GO:0021987 | cerebral cortex development | IEA | -- |
No data available for SIGNOR curated interactions for AFDN Gene
Drugs & Compounds for AFDN Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| (5R)-2-SULFANYL-5-[4-(TRIFLUOROMETHYL)BENZYL]-1,3-THIAZOL-4-ONE | Experimental | Pharma | Target | 0 |
Drug Products
Transcripts for AFDN Gene
mRNA/cDNA for AFDN Gene
- (20) REFSEQ mRNAs :
- (12) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000366806 5962 bps (uc021zik.2)
- ENST00000392112 7459 bps (uc021zij.1)
- ENST00000486649 423 bps (uc063syc.1)
- ENST00000511503 1257 bps (uc063syb.1)
- ENST00000515794 746 bps (uc063sya.1)
CRISPR Products
-
OriGene CRISPR knockouts for AFDN
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- genomics-online: gRNA clones - Search results for available MLLT4 gene related products
- Applied Biological Materials CRISPR for AFDN
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for AFDN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AFDN
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Clone Products
- Sino Biological Human cDNA Clone for AFDN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AFDN
- genomics-online: cdna clones - Search results for available MLLT4 gene related products
- orf clones - Search results for available MLLT4 gene related products
- Applied Biological Materials Clones for AFDN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for AFDN Gene
NURSA nuclear receptor signaling pathways regulating expression of AFDN Gene:
AFDNEvidence on tissue expression from TISSUES for AFDN Gene
- Nervous system(4.9)
- Liver(4.4)
- Kidney(2.6)
- Lung(2.6)
- Heart(2.2)
- Skin(2)
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs for AFDN
- genomics-online: primer clones - Search results for available MLLT4 gene related products
Gene Expression Assay Products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 AFDN Gene
Orthologs for AFDN Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MLLT4 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MLLT4 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Mllt4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Mllt4 34 33 |
|
OneToOne | |
| Afdn 16 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | MLLT4 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MLLT4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MLLT4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MLLT4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mllt4 33 |
|
||
| Str.20348 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22528 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mllt4 34 33 |
|
OneToMany | |
| MLLT4 (3 of 3) 34 |
|
OneToMany | |||
| MLLT4 (2 of 3) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | cno 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | afd-1 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for AFDN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
Evolution for AFDN Gene
- ENSEMBL:
- Gene Tree for AFDN (if available)
- TreeFam:
- Gene Tree for AFDN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AFDN: view image
Paralogs for AFDN Gene
Variants for AFDN Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519562 | uncertain-significance, not specified | 167,915,425(+) | ATC/TGA | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs35140809 | uncertain-significance, not specified | 167,896,967(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000041615 | -- | 167,906,587(+) | A/G | intron_variant | |
| rs1000044961 | -- | 167,924,402(+) | C/T | intron_variant | |
| rs1000055332 | -- | 167,921,245(+) | G/T | intron_variant |
Residual Variation Intolerance Score:
2.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.78;
58.16% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AFDN Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFDN Gene
Disorders for AFDN Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| central nervous system leukemia |
|
|
| cleft lip/palate-ectodermal dysplasia syndrome |
|
|
| acrodermatitis chronica atrophicans |
|
|
| leukemia, acute monocytic |
|
|
| leukemia, acute myeloid |
|
|
Search AFDN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AFAD_HUMAN- Note=A chromosomal aberration involving AFDN is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein.
Additional Disease Information for AFDN
No data available for Genatlas for AFDN Gene
Publications for AFDN Gene
- Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation. (PMID: 8242616) Prasad R … Kuriyama K (Cancer research 1993) 2 3 4 22 58
- Nectin and afadin: novel organizers of intercellular junctions. (PMID: 12456712) Takai Y … Nakanishi H (Journal of cell science 2003) 3 4 22 58
- Human nectin3/PRR3: a novel member of the PVR/PRR/nectin family that interacts with afadin. (PMID: 11024295) Reymond N … Lopez M (Gene 2000) 3 4 22 58
- Complete genomic structure DNA polymorphisms, and alternative splicing of the human AF-6 gene. (PMID: 9679199) Saito S … Nakamura Y (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 22 58
- Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. (PMID: 19176753) Severson EA … Parkos CA (Molecular biology of the cell 2009) 3 22 58
Products for AFDN Gene
- R&D Systems Antibodies for AFDN (Afadin/AF-6)
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- Invitrogen Antibodies for AFDN (AFLGC-AFDN)
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- antibodies-online: Search results for 41 available MLLT4 Antibodies ranked by validation data
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- Recommended
- 26 WB Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 11 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 26 WB Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 11 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Search results for available MLLT4 related products ranked by validation data
- antibodies-online: Search results for available MLLT4 related products ranked by validation data
- GeneTex Afdn Antibody for AFDN
- Search GeneTex for Proteins for AFDN
- Horizon Cell Lines for AFDN
- genomics-online: cdna clones - Search results for available MLLT4 gene related products
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AFDN
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- Boster Bio Antibodies for AFDN
- Browse Boster Bio ELISA Kits
Sources for AFDN 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
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