Aliases for SLC25A38 Gene
Aliases for SLC25A38 Gene
External Ids for SLC25A38 Gene
- HGNC: 26054
- Entrez Gene: 54977
- Ensembl: ENSG00000144659
- OMIM: 610819
- UniProtKB: Q96DW6
Previous GeneCards Identifiers for SLC25A38 Gene
- GC03P039400
- GC03P039433
Summaries for SLC25A38 Gene
-
This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
GeneCards Summary for SLC25A38 Gene
SLC25A38 (Solute Carrier Family 25 Member 38) is a Protein Coding gene. Diseases associated with SLC25A38 include Anemia, Sideroblastic, 2, Pyridoxine-Refractory and Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia.
UniProtKB/Swiss-Prot for SLC25A38 Gene
-
Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane.
Additional gene information for SLC25A38 Gene
- Monarch Initiative
- Search for SLC25A38 at DataMed
- Search for SLC25A38 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A38 Gene
Genomics for SLC25A38 Gene
GeneHancer (GH) Regulatory Elements for SLC25A38 Gene
Regulatory Element Products
Genomic Locations for SLC25A38 Gene
- chr3:39,383,324-39,397,351
- (GRCh38/hg38)
- Size:
- 14,028 bases
- Orientation:
- Plus strand
- chr3:39,424,815-39,438,842
- (GRCh37/hg19)
Genomic View for SLC25A38 Gene
- Cytogenetic band:
-
- 3p22.1 by Ensembl
- 3p22.1 by Entrez Gene
- 3p22.1 by HGNC


RefSeq DNA sequence for SLC25A38 Gene
Proteins for SLC25A38 Gene
-
Protein details for SLC25A38 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96DW6-S2538_HUMAN
- Recommended name:
- Solute carrier family 25 member 38
- Protein Accession:
- Q96DW6
- Q9NWX2
Protein attributes for SLC25A38 Gene
- Size:
- 304 amino acids
- Molecular mass:
- 33566 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC25A38 Gene
Post-translational modifications for SLC25A38 Gene
Other Protein References for SLC25A38 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLC25A38
-
Abcam antibodies for SLC25A38
- Invitrogen Antibodies for SLC25A38
- GeneTex SLC25A38 antibody for SLC25A38
Protein Products
-
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- antibodies-online: Search results for 4 available SLC25A38 Proteins ranked by validation data
- Compare Top SLC25A38 Proteins
-
Quality Products:
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-
Abcam proteins for SLC25A38
Assay Products
No data available for DME Specific Peptides for SLC25A38 Gene
Domains & Families for SLC25A38 Gene
Gene Families for SLC25A38 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC25A38 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC25A38 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96DW6UniProtKB/Swiss-Prot:
S2538_HUMAN :- Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily.
- Family:
-
- Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily.
Function for SLC25A38 Gene
Molecular function for SLC25A38 Gene
- UniProtKB/Swiss-Prot Function:
- Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015187 | glycine transmembrane transporter activity | IBA | -- |
Phenotypes for SLC25A38 Gene
- MGI mutant phenotypes for SLC25A38:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SLC25A38:
Animal Models for SLC25A38 Gene
- MGI Knock Outs for SLC25A38:
-
- Slc25a38 tm1a(EUCOMM)Wtsi
Animal Model Products
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-
-
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-
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miRNA for SLC25A38 Gene
- miRTarBase miRNAs that target SLC25A38
miRNA Products
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Inhibitory RNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
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- 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
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-
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SLC25A38 Gene
Localization for SLC25A38 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC25A38 Gene
- Mitochondrion inner membrane; Multi-pass membrane protein.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | IBA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A38 Gene
Pathways & Interactions for SLC25A38 Gene
Interacting Proteins for SLC25A38 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006783 | heme biosynthetic process | TAS | 19412178 |
GO:0006810 | transport | IEA | -- |
GO:0006839 | mitochondrial transport | IBA | -- |
GO:0030218 | erythrocyte differentiation | IMP | 19412178 |
GO:0036233 | glycine import | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SLC25A38 Gene
Transcripts for SLC25A38 Gene
mRNA/cDNA for SLC25A38 Gene
- (5) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (272) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC25A38 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC25A38
- genomics-online: gRNA clones - Search results for 122 available SLC25A38 gene related products
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- Applied Biological Materials CRISPR for SLC25A38
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A38
- GenScript: Design CRISPR guide RNA sequences for SLC25A38
miRNA Products
- Search ViGene Biosciences for SLC25A38
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLC25A38
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ViGene Biosciences ready-to-package AAV shRNAs for SLC25A38 gene
Clone Products
-
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC25A38
-
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
- Applied Biological Materials Clones for SLC25A38
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - |
Expression for SLC25A38 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A38 Gene
NURSA nuclear receptor signaling pathways regulating expression of SLC25A38 Gene:
SLC25A38SOURCE GeneReport for Unigene cluster for SLC25A38 Gene:
Hs.369615mRNA Expression by UniProt/SwissProt for SLC25A38 Gene:
Q96DW6-S2538_HUMANEvidence on tissue expression from TISSUES for SLC25A38 Gene
- Skin(4.1)
- Nervous system(4)
- Bone marrow(2.3)
- Intestine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A38 Gene
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- liver
- blood
- red blood cell
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SLC25A38
-
OriGene qPCR primer pairs and template standards for SLC25A38
- genomics-online: primer clones - Search results for 122 available SLC25A38 gene related products
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No data available for mRNA differential expression in normal tissues for SLC25A38 Gene
Orthologs for SLC25A38 Gene
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SLC25A38 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | SLC25A38 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | SLC25A38 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Slc25a38 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Slc25a38 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | SLC25A38 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | SLC25A38 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SLC25A38 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | SLC25A38 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | slc25a38 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | slc25a38b 33 34 |
|
||
slc25a38a 34 |
|
OneToMany | |||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YDL119C 33 |
|
||
-- 34 |
|
OneToOne | |||
HEM25 36 |
|
|
|||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E08911g 33 |
|
||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGR383W 33 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU02973 33 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC823.10c 33 |
|
- Species where no ortholog for SLC25A38 was found in the sources mined by GeneCards:
-
- 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)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- 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 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 SLC25A38 Gene
(2) SIMAP similar genes for SLC25A38 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for SLC25A38 Gene
No data available for Paralogs for SLC25A38 Gene
Variants for SLC25A38 Gene
SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113251543 | uncertain-significance, Refractory anemia with ringed sideroblasts (clinical), Hereditary sideroblastic anemia | 39,396,824(+) | C/T | 3_prime_UTR_variant | |
rs114422738 | likely-benign, Hereditary sideroblastic anemia, Refractory anemia with ringed sideroblasts (clinical) | 39,383,422(+) | A/C | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
rs121918330 | pathogenic, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | 39,391,513(+) | C/T | coding_sequence_variant, stop_gained | |
rs121918331 | pathogenic, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950] | 39,391,956(+) | G/A/C | coding_sequence_variant, missense_variant | |
rs121918332 | pathogenic, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | 39,394,574(+) | A/T | coding_sequence_variant, intron_variant, stop_gained |
Additional Variant Information for SLC25A38 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC25A38 Gene
Disorders for SLC25A38 Gene

(6) MalaCards diseases for SLC25A38 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
anemia, sideroblastic, 2, pyridoxine-refractory |
|
|
pyridoxine-refractory autosomal recessive sideroblastic anemia |
|
|
autosomal recessive sideroblastic anemia |
|
|
anemia, sideroblastic, 3, pyridoxine-refractory |
|
|
sideroblastic anemia |
|
|
UniProtKB/Swiss-Prot
S2538_HUMAN- Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950]: A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. {ECO:0000269 PubMed:19412178}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC25A38
No data available for Genatlas for SLC25A38 Gene
Publications for SLC25A38 Gene
- Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4 58
- Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. (PMID: 19412178) Guernsey DL … Samuels ME (Nature genetics 2009) 3 4 58
- Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology. (PMID: 26813789) Zhang C … Zhang YW (Journal of cell science 2016) 3 58
- Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia. (PMID: 27476175) Lunetti P … Capobianco L (The Journal of biological chemistry 2016) 3 58
- Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. (PMID: 26821380) Fernández-Murray JP … McMaster CR (PLoS genetics 2016) 3 58
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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
- antibodies-online: Search results for 22 available SLC25A38 Antibodies ranked by validation data
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Sources for SLC25A38 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