Aliases for HHLA2 Gene
Aliases for HHLA2 Gene
External Ids for HHLA2 Gene
- HGNC: 4905
- Entrez Gene: 11148
- Ensembl: ENSG00000114455
- OMIM: 604371
- UniProtKB: Q9UM44
Previous GeneCards Identifiers for HHLA2 Gene
- GC03P104824
- GC03U900035
- GC03P109351
- GC03P109342
- GC03P109498
- GC03P108015
- GC03P105394
Summaries for HHLA2 Gene
-
This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
GeneCards Summary for HHLA2 Gene
HHLA2 (HERV-H LTR-Associating 2) is a Protein Coding gene. Among its related pathways are T Cell Co-Signaling Pathway: Ligand-Receptor Interactions. An important paralog of this gene is CD276.
UniProtKB/Swiss-Prot for HHLA2 Gene
-
Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHLA2 Gene
Genomics for HHLA2 Gene
Regulatory Elements for HHLA2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH03G108219 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 12.7 | -74.3 | -74265 | 5.8 | HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 | HHLA2 IFT57 CD47 GC03M108125 |
| GH03G107985 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 9.7 | -306.4 | -306440 | 9.3 | PKNOX1 NFIB BMI1 ZBTB40 RAD21 RFX5 GATA2 HSF1 RCOR1 FOS | HHLA2 LINC00636 CD47 ENSG00000279277 |
| GH03G108052 | 0.9 | ENCODE dbSUPER | 10.4 | -243.1 | -243076 | 1.0 | CTCF HDGF PKNOX1 NFIB SIN3A MNT DPF2 RAD21 ATF2 MTA3 | HHLA2 ENSG00000279277 GC03M108067 |
| GH03G108406 | 0.9 | ENCODE | 9.7 | +110.3 | 110294 | 0.2 | PKNOX1 FOXA2 ARNT ARID4B FEZF1 YY1 TCF12 GATA2 ZNF143 MXD4 | MYH15 HHLA2 GC03M108377 GC03M108465 |
| GH03G108250 | 0.6 | ENCODE | 10.3 | -45.4 | -45385 | 2.1 | NFIA NFIB ZNF195 FOXA1 NFIC ZNF544 ZNF350 FOS | KIAA1524 HHLA2 IFT57 CD47 |
Regulatory Element Products
Genomic Location for HHLA2 Gene
- Chromosome:
- 3
- Start:
- 108,296,485 bp from pter
- End:
- 108,388,971 bp from pter
- Size:
- 92,487 bases
- Orientation:
- Plus strand
Genomic View for HHLA2 Gene
- Cytogenetic band:
-
- 3q13.13 by Ensembl
- 3q13.13 by Entrez Gene
- 3q13.13 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HHLA2 Gene
Proteins for HHLA2 Gene
-
Protein details for HHLA2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UM44-HHLA2_HUMAN
- Recommended name:
- HERV-H LTR-associating protein 2
- Protein Accession:
- Q9UM44
- B4DKN2
- D3DN60
- Q9NWQ6
Protein attributes for HHLA2 Gene
- Size:
- 414 amino acids
- Molecular mass:
- 46850 Da
- Quaternary structure:
-
- Interacts with TMIGD2.
- SequenceCaution:
-
- Sequence=BAA91323.1; Type=Erroneous termination; Positions=221; Note=Translated as Trp.; Evidence={ECO:0000305};
Protein Expression for HHLA2 Gene
Post-translational modifications for HHLA2 Gene
- Glycosylation at isoforms=90, posLast=103103, and posLast=318318
Other Protein References for HHLA2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for HHLA2 (B7-H7/HHLA2)
-
Custom Antibody ServicesOriGene Antibodies for HHLA2
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-
Abcam antibodies for HHLA2
- Invitrogen Antibodies for HHLA2
- GeneTex HHLA2 antibody for HHLA2
Protein Products
- R&D Systems Proteins and Enzymes for HHLA2 (B7-H7/HHLA2)
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- Sino Biological Recombinant Proteins for HHLA2
- Search GeneTex for Proteins for HHLA2
-
Abcam proteins for HHLA2
Assay Products
No data available for DME Specific Peptides for HHLA2 Gene
Domains & Families for HHLA2 Gene
Gene Families for HHLA2 Gene
Protein Domains for HHLA2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HHLA2 Gene
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HHLA2 Gene
Function for HHLA2 Gene
Molecular function for HHLA2 Gene
- UniProtKB/Swiss-Prot Function:
- Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated in antigen-presenting cells in response to inflammation. Induced in dendritic cells in response to IFNG, poly(I:C) or heat-killed Listeria monocytogenes (at protein level).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 23784006 |
Phenotypes for HHLA2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HHLA2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HHLA2 gene
- Search ViGene Biosciences for HHLA2
CRISPR Products
-
OriGene CRISPR knockouts for HHLA2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HHLA2
- GenScript: Design CRISPR guide RNA sequences for HHLA2
miRNA for HHLA2 Gene
- miRTarBase miRNAs that target HHLA2
-
- hsa-mir-4276 (MIRT446266)
- hsa-mir-1257 (MIRT446267)
- hsa-mir-431-5p (MIRT446268)
- hsa-mir-4697-3p (MIRT446269)
- hsa-mir-219b-5p (MIRT446270)
- hsa-mir-4635 (MIRT446271)
- hsa-mir-5190 (MIRT446272)
- hsa-mir-654-3p (MIRT446273)
- hsa-mir-548l (MIRT446274)
- hsa-mir-548n (MIRT446275)
- hsa-mir-524-5p (MIRT713849)
- hsa-mir-520d-5p (MIRT713850)
- hsa-mir-6892-5p (MIRT713851)
- hsa-mir-1248 (MIRT713852)
- hsa-mir-548b-3p (MIRT713853)
- hsa-mir-3133 (MIRT713854)
miRNA Products
- Search ViGene Biosciences for HHLA2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HHLA2
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-
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Clone Products
- Sino Biological Human cDNA Clone for HHLA2
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Cell Line Products
-
Horizon Cell Lines for HHLA2
-
ViGene Biosciences adenoviral particle packaged cDNA for HHLA2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HHLA2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HHLA2 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HHLA2 Gene
Localization for HHLA2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HHLA2 Gene
- Membrane; Single-pass type I membrane protein.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005575 | cellular_component | ND | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for HHLA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | T Cell Co-Signaling Pathway: Ligand-Receptor Interactions | ||
Pathways by source for HHLA2 Gene
1 R&D Systems pathway for HHLA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001819 | positive regulation of cytokine production | IDA | 23784006 |
| GO:0031295 | T cell costimulation | IDA | 23784006 |
| GO:0042104 | positive regulation of activated T cell proliferation | IDA | 23784006 |
No data available for SIGNOR curated interactions for HHLA2 Gene
Transcripts for HHLA2 Gene
mRNA/cDNA for HHLA2 Gene
- (11) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (29) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HHLA2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HHLA2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HHLA2
- GenScript: Design CRISPR guide RNA sequences for HHLA2
miRNA Products
- Search ViGene Biosciences for HHLA2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HHLA2
- Browse OriGene Inhibitory RNA Products For HHLA2
-
ViGene Biosciences ready-to-package AAV shRNAs for HHLA2 gene
Clone Products
- Sino Biological Human cDNA Clone for HHLA2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||
| SP5: |
Expression for HHLA2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for HHLA2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HHLA2 Gene
NURSA nuclear receptor signaling pathways regulating expression of HHLA2 Gene:
HHLA2SOURCE GeneReport for Unigene cluster for HHLA2 Gene:
Hs.252351mRNA Expression by UniProt/SwissProt for HHLA2 Gene:
Q9UM44-HHLA2_HUMANEvidence on tissue expression from TISSUES for HHLA2 Gene
- Intestine(4.2)
- Kidney(4.2)
- Gall bladder(2)
Primer Products
-
OriGene qPCR primer pairs for HHLA2
-
OriGene qPCR primer pairs and template standards for HHLA2
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HHLA2 Gene
Orthologs for HHLA2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HHLA2 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HHLA2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | HHLA2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HHLA2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HHLA2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hhla2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | HHLA2 (3 of 4) 35 |
|
OneToMany | |
| HHLA2 (1 of 4) 35 |
|
OneToMany | |||
| HHLA2 (2 of 4) 35 |
|
OneToMany | |||
| HHLA2 (4 of 4) 35 |
|
OneToMany |
- Species where no ortholog for HHLA2 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)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- dog (Canis familiaris)
- 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)
- mouse (Mus musculus)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HHLA2 Gene
(1) SIMAP similar genes for HHLA2 Gene using alignment to 8 proteins:
Variants for HHLA2 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000020648 | -- | 108,307,755(+) | CTAAA(C/T)TACAG | intron-variant | |
| rs1000086970 | -- | 108,346,005(+) | TGAAT(C/T)TGTGG | intron-variant | |
| rs1000109916 | -- | 108,377,105(+) | TTATA(A/G)TGGTC | intron-variant, utr-variant-3-prime | |
| rs1000134351 | -- | 108,298,952(+) | CTTCT(C/T)CATGG | intron-variant | |
| rs1000193117 | -- | 108,360,216(+) | AACAC(A/G)TTTCT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3309192 | CNV | mobile element insertion | 20981092 |
| esv3328600 | CNV | duplication | 20981092 |
| esv3427359 | CNV | insertion | 20981092 |
| nsv1002984 | CNV | loss | 25217958 |
| nsv1011158 | CNV | gain | 25217958 |
| nsv526190 | CNV | gain | 19592680 |
| nsv829656 | CNV | loss | 17160897 |
| nsv829657 | CNV | gain | 17160897 |
| nsv967048 | CNV | duplication | 23825009 |
Relevant External Links for HHLA2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HHLA2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHLA2 Gene
Disorders for HHLA2 Gene
Relevant External Links for HHLA2
No disorders were found for HHLA2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HHLA2 Gene
Publications for HHLA2 Gene
- Endogenous retroviruses provide the primary polyadenylation signal for two new human genes (HHLA2 and HHLA3). (PMID: 10444326) Mager D.L. … Freeman J.D. (Genomics 1999) 2 3 4 22 64
- B7-H5 costimulates human T cells via CD28H. (PMID: 23784006) Zhu Y. … Chen L. (Nat Commun 2013) 2 3 4 64
- Evolution of the B7 family: co-evolution of B7H6 and NKp30, identification of a new B7 family member, B7H7, and of B7's historical relationship with the MHC. (PMID: 22488247) Flajnik M.F. … Ohta Y. (Immunogenetics 2012) 2 3 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for HHLA2 Gene
- R&D Systems Antibodies for HHLA2 (B7-H7/HHLA2)
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- Custom Antibody ServicesOriGene Antibodies for HHLA2
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- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HHLA2
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- OriGene qPCR primer pairs and template standards for HHLA2
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- GenScript: Design CRISPR guide RNA sequences for HHLA2
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- Sino Biological Antibodies
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- Novus Biologicals Antibodies for HHLA2
- Novus Biologicals proteins and lysates for HHLA2
- Novus Biologicals
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- Abcam antibodies for HHLA2
- Abcam proteins for HHLA2
- Search for Assays for HHLA2 at Abcam
- Find your target
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- ViGene Biosciences adenoviral particle packaged cDNA for HHLA2 gene
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- Horizon Cell Lines for HHLA2
- Cyagen custom Knockout/knockin (KOKI) mouse models for HHLA2
- VectorBuilder custom plasmid, inducible vectors for HHLA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HHLA2
- 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
Sources for HHLA2 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
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




