Aliases for KMT5B Gene
Aliases for KMT5B Gene
- Lysine Methyltransferase 5B 2 3 5
- Lysine (K)-Specific Methyltransferase 5B 2 3
- Suppressor Of Variegation 4-20 Homolog 1 3 4
- Lysine-Specific Methyltransferase 5B 3 4
- Lysine N-Methyltransferase 5B 3 4
- Su(Var)4-20 Homolog 1 3 4
- Suv4-20h1 3 4
- SUV420H1 3 4
- Suppressor Of Variegation 4-20 Homolog 1 (Drosophila) 2
External Ids for KMT5B Gene
- HGNC: 24283
- Entrez Gene: 51111
- Ensembl: ENSG00000110066
- OMIM: 610881
- UniProtKB: Q4FZB7
Previous HGNC Symbols for KMT5B Gene
- SUV420H1
Summaries for KMT5B Gene
-
This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
GeneCards Summary for KMT5B Gene
KMT5B (Lysine Methyltransferase 5B) is a Protein Coding gene. Diseases associated with KMT5B include Mental Retardation, Autosomal Dominant 51 and Type 1 Diabetes Mellitus 4. Among its related pathways are PKMTs methylate histone lysines and Glucocorticoid receptor regulatory network. An important paralog of this gene is KMT5C.
UniProtKB/Swiss-Prot for KMT5B Gene
-
Histone methyltransferase that specifically trimethylates Lys-20 of histone H4. H4 Lys-20 trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT5B Gene
Genomics for KMT5B Gene
GeneHancer (GH) Regulatory Elements for KMT5B Gene
Regulatory Element Products
Genomic Locations for KMT5B Gene
- chr11:68,154,863-68,213,828
- (GRCh38/hg38)
- Size:
- 58,966 bases
- Orientation:
- Minus strand
- chr11:67,922,330-67,981,295
- (GRCh37/hg19)
Genomic View for KMT5B Gene
- Cytogenetic band:
-
- 11q13.2 by Ensembl
- 11q13.2 by Entrez Gene
- 11q13.2 by HGNC


RefSeq DNA sequence for KMT5B Gene
Proteins for KMT5B Gene
-
Protein details for KMT5B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q4FZB7-KMT5B_HUMAN
- Recommended name:
- Histone-lysine N-methyltransferase KMT5B
- Protein Accession:
- Q4FZB7
- B7WNX7
- Q3SX56
- Q4V775
- Q6P150
- Q96E44
- Q9BUL0
- Q9H022
- Q9H2K3
- Q9NXV3
- Q9Y393
Protein attributes for KMT5B Gene
- Size:
- 885 amino acids
- Molecular mass:
- 99187 Da
- Quaternary structure:
-
- Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 (By similarity). Interacts (via C-terminus) with FRG1.
- SequenceCaution:
-
- Sequence=AAD34080.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG36937.1; Type=Frameshift; Positions=233, 249, 254, 272; Evidence={ECO:0000305}; Sequence=AAH98121.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI04484.1; Type=Frameshift; Positions=396; Evidence={ECO:0000305}; Sequence=BAA90905.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Post-translational modifications for KMT5B Gene
Other Protein References for KMT5B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam antibodies for KMT5B
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-
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-
Abcam proteins for KMT5B
Assay Products
No data available for DME Specific Peptides for KMT5B Gene
Domains & Families for KMT5B Gene
Gene Families for KMT5B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for KMT5B Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KMT5B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q4FZB7UniProtKB/Swiss-Prot:
KMT5B_HUMAN :- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.
- Family:
-
- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.
Function for KMT5B Gene
Molecular function for KMT5B Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
- UniProtKB/Swiss-Prot Function:
- Histone methyltransferase that specifically trimethylates Lys-20 of histone H4. H4 Lys-20 trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3.
- UniProtKB/Swiss-Prot Induction:
- Strongly down-regulated in breast cancer cells.
Enzyme Numbers (IUBMB) for KMT5B Gene
Phenotypes From GWAS Catalog for KMT5B Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008168 | methyltransferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0018024 | histone-lysine N-methyltransferase activity | TAS | -- |
GO:0042799 | histone methyltransferase activity (H4-K20 specific) | IEA | -- |
Phenotypes for KMT5B Gene
- MGI mutant phenotypes for KMT5B:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for KMT5B:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased p24 protein expression
- Increased G1 DNA content
- Decreased Salmonella enterica Typhimurium invasion
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Increased circadian period length
- Downregulation of Wnt pathway after Wnt3A stimulation
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miRNA for KMT5B Gene
- miRTarBase miRNAs that target KMT5B
-
- hsa-mir-590-3p (MIRT016220)
- hsa-mir-130b-3p (MIRT020188)
- hsa-mir-93-5p (MIRT028080)
- hsa-mir-32-5p (MIRT028330)
- hsa-mir-27a-3p (MIRT028707)
- hsa-mir-19b-3p (MIRT031143)
- hsa-mir-21-3p (MIRT038965)
- hsa-mir-128-3p (MIRT045876)
- hsa-mir-5585-3p (MIRT534002)
- hsa-mir-502-5p (MIRT534003)
- hsa-mir-889-3p (MIRT534004)
- hsa-mir-4796-3p (MIRT534005)
- hsa-mir-548ah-5p (MIRT534006)
- hsa-mir-3609 (MIRT534007)
- hsa-mir-20a-5p (MIRT534008)
- hsa-mir-106b-5p (MIRT534009)
- hsa-mir-526b-3p (MIRT534010)
- hsa-mir-17-5p (MIRT534011)
- hsa-mir-519d-3p (MIRT534012)
- hsa-mir-20b-5p (MIRT534013)
- hsa-mir-106a-5p (MIRT534014)
- hsa-mir-92b-3p (MIRT726406)
- hsa-mir-92a-3p (MIRT726407)
miRNA Products
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available SUV420H1 gene related products
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-
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No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT5B Gene
Localization for KMT5B Gene
Subcellular locations from UniProtKB/Swiss-Prot for KMT5B Gene
- Nucleus. Chromosome. Note=Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity). {ECO:0000250}.
- Nucleus (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000780 | condensed nuclear chromosome, centromeric region | IEA | -- |
GO:0005634 | nucleus | IDA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
Pathways & Interactions for KMT5B Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | PKMTs methylate histone lysines | ||
3 | Lysine degradation | ||
4 | Glucocorticoid receptor regulatory network |
Pathways by source for KMT5B Gene
2 BioSystems pathways for KMT5B Gene
3 Reactome pathways for KMT5B Gene
1 KEGG pathway for KMT5B Gene
Interacting Proteins for KMT5B Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006351 | transcription, DNA-templated | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007517 | muscle organ development | IEA | -- |
GO:0016569 | covalent chromatin modification | IEA | -- |
GO:0016571 | histone methylation | IEA | -- |
No data available for SIGNOR curated interactions for KMT5B Gene
Drugs & Compounds for KMT5B Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
s-adenosylhomocysteine | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
29908-03-0 |
|
Transcripts for KMT5B Gene
mRNA/cDNA for KMT5B Gene
- (17) REFSEQ mRNAs :
- (362) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for KMT5B
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-
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Inhibitory RNA 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
- genomics-online: cdna clones - Search results for available SUV420H1 gene related products
- orf clones - Search results for available SUV420H1 gene related products
- Applied Biological Materials Clones for KMT5B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for KMT5B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
NURSA nuclear receptor signaling pathways regulating expression of KMT5B Gene:
KMT5BEvidence on tissue expression from TISSUES for KMT5B Gene
- Intestine(4.3)
- Nervous system(3.4)
Primer Products
-
OriGene qPCR primer pairs for KMT5B
-
OriGene qPCR primer pairs and template standards for KMT5B
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No data available for mRNA expression in normal human tissues , 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 KMT5B Gene
Orthologs for KMT5B Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SUV420H1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | SUV420H1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | SUV420H1 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Suv420h1 33 |
|
||
mouse (Mus musculus) |
Mammalia | Suv420h1 33 34 |
|
||
Kmt5b 16 |
|
||||
platypus (Ornithorhynchus anatinus) |
Mammalia | SUV420H1 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | SUV420H1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SUV420H1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | SUV420H1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | suv420h1 33 |
|
||
Str.16943 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1754 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | suv420h1 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Hmt4-20 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | set-4 33 34 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9369 34 |
|
OneToMany |
- Species where no ortholog for KMT5B 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)
Paralogs for KMT5B Gene
Variants for KMT5B Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057518998 | uncertain-significance, Language retardation | 68,171,062(-) | CCC/CC | 5_prime_UTR_variant, coding_sequence_variant, frameshift | |
rs878853164 | likely-pathogenic, not provided | 68,157,849(-) | C/A | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
rs1000011031 | -- | 68,211,383(-) | A/G | genic_upstream_transcript_variant, intron_variant | |
rs1000115536 | -- | 68,201,111(-) | T/C | genic_upstream_transcript_variant, intron_variant | |
rs1000130543 | -- | 68,164,596(-) | AGAGAGAG/AGAGAG | genic_downstream_transcript_variant, intron_variant |
Additional Variant Information for KMT5B Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT5B Gene
Disorders for KMT5B Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal dominant 51 |
|
|
type 1 diabetes mellitus 4 |
|
|
immunodeficiency with hyper-igm, type 2 |
|
|
Additional Disease Information for KMT5B
No data available for UniProtKB/Swiss-Prot and Genatlas for KMT5B Gene
Publications for KMT5B Gene
- The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13. (PMID: 11401438) Twells RC … Hess JF (Genomics 2001) 2 3 4 58
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
- FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis. (PMID: 23720823) Neguembor MV … Gabellini D (Journal of molecular cell biology 2013) 3 4 58
- Loss of DNA methylation and histone H4 lysine 20 trimethylation in human breast cancer cells is associated with aberrant expression of DNA methyltransferase 1, Suv4-20h2 histone methyltransferase and methyl-binding proteins. (PMID: 16322686) Tryndyak VP … Pogribny IP (Cancer biology & therapy 2006) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
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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
- antibodies-online: Search results for 50 available SUV420H1 Antibodies ranked by validation data
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Sources for KMT5B 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
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew