Aliases for HIC1 Gene
Aliases for HIC1 Gene
External Ids for HIC1 Gene
- HGNC: 4909
- Entrez Gene: 3090
- Ensembl: ENSG00000177374
- OMIM: 603825
- UniProtKB: Q14526
Previous GeneCards Identifiers for HIC1 Gene
- GC17P002266
- GC17P002300
- GC17P001910
- GC17P002166
- GC17P001906
- GC17P001905
- GC17P001958
- GC17P001964
- GC17P001967
- GC17P001973
Summaries for HIC1 Gene
-
This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]
GeneCards Summary for HIC1 Gene
HIC1 (HIC ZBTB Transcriptional Repressor 1) is a Protein Coding gene. Diseases associated with HIC1 include Miller-Dieker Lissencephaly Syndrome and Medulloblastoma. Among its related pathways are E2F transcription factor network and Direct p53 effectors. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and histone deacetylase binding. An important paralog of this gene is HIC2.
UniProtKB/Swiss-Prot for HIC1 Gene
-
Transcriptional repressor. Recognizes and binds to the consensus sequence 5-[CG]NG[CG]GGGCA[CA]CC-3. May act as a tumor suppressor. May be involved in development of head, face, limbs and ventral body wall. Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1. The regulation of SIRT1 transcription in response to nutrient deprivation seems to involve CTBP1. In cooperation with MTA1 (indicative for an association with the NuRD complex) represses transcription from CCND1/cyclin-D1 and CDKN1C/p57Kip2 specifically in quiescent cells. Involved in regulation of the Wnt signaling pathway probably by association with TCF7L2 and preventing TCF7L2 and CTNNB1 association with promoters of TCF-responsive genes. Seems to repress transcription from E2F1 and ATOH1 which involves ARID1A, indicative for the participation of a distinct SWI/SNF-type chromatin-remodeling complex. Probably represses transcription from ACKR3, FGFBP1 and EFNA1.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIC1 Gene
Genomics for HIC1 Gene
Regulatory Elements for HIC1 Gene
- Transcription factor binding sites by QIAGEN in the HIC1 gene promoter:
Regulatory Element Products
Genomic Location for HIC1 Gene
- Chromosome:
- 17
- Start:
- 2,054,154 bp from pter
- End:
- 2,063,241 bp from pter
- Size:
- 9,088 bases
- Orientation:
- Plus strand
Genomic View for HIC1 Gene
- Cytogenetic band:
-
- 17p13.3 by Ensembl
- 17p13.3 by Entrez Gene
- 17p13.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HIC1 Gene
Proteins for HIC1 Gene
-
Protein details for HIC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14526-HIC1_HUMAN
- Recommended name:
- Hypermethylated in cancer 1 protein
- Protein Accession:
- Q14526
- D3DTI4
Protein attributes for HIC1 Gene
- Size:
- 733 amino acids
- Molecular mass:
- 76508 Da
- Quaternary structure:
-
- Self-associates. Interacts with HIC2. Interacts with CTBP1 and CTBP2. Interacts with TCF7L2 and ARID1A. Interacts with MTA1 and MBD3; indicative for an association with the NuRD complex.
- Miscellaneous:
-
- The HIC1 gene is frequently found epigenetically silenced or deleted in different types of solid tumors.
Protein Expression for HIC1 Gene
Post-translational modifications for HIC1 Gene
- Acetylated on several residues, including Lys-333. Lys-333 is deacetylated by SIRT1.
- Sumoylated on Lys-333 by a PIAS family member, which enhances interaction with MTA1, positively regulates transcriptional repression activity and is enhanced by HDAC4.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for HIC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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- Invitrogen Antibodies for HIC1
- antibodies-online Antibodies for HIC1: See all 71
- GeneTex HIC1 antibody for HIC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HIC1
Protein Products
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OriGene Purified Proteins for HIC1
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- antibodies-online Proteins for HIC1: See all 5
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Assay Products
- antibodies-online Kits for HIC1: See all 3
No data available for DME Specific Peptides for HIC1 Gene
Domains & Families for HIC1 Gene
Gene Families for HIC1 Gene
Protein Domains for HIC1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIC1 Gene
Graphical View of Domain Structure for InterPro Entry
Q14526UniProtKB/Swiss-Prot:
HIC1_HUMAN :- The BTB domain inhibits the binding to a single consensus binding site, but mediates cooperative binding to multiple binding sites.
- Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
- Domain:
-
- The BTB domain inhibits the binding to a single consensus binding site, but mediates cooperative binding to multiple binding sites.
- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
Function for HIC1 Gene
Molecular function for HIC1 Gene
- GENATLAS Biochemistry:
- zinc finger transcription factor gene,ubiquitously expressed in mesenchyme of the sclerotomes,lateral body wall,limb and craniofacial region,hypermethylated and underexpressed in tumor,deleted in the Miller-Dieker syndrome,putatively involved in the pathogenesis as suggested by the developmental defects observed in Hic1 deficient mice
- UniProtKB/Swiss-Prot Function:
- Transcriptional repressor. Recognizes and binds to the consensus sequence 5-[CG]NG[CG]GGGCA[CA]CC-3. May act as a tumor suppressor. May be involved in development of head, face, limbs and ventral body wall. Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1. The regulation of SIRT1 transcription in response to nutrient deprivation seems to involve CTBP1. In cooperation with MTA1 (indicative for an association with the NuRD complex) represses transcription from CCND1/cyclin-D1 and CDKN1C/p57Kip2 specifically in quiescent cells. Involved in regulation of the Wnt signaling pathway probably by association with TCF7L2 and preventing TCF7L2 and CTNNB1 association with promoters of TCF-responsive genes. Seems to repress transcription from E2F1 and ATOH1 which involves ARID1A, indicative for the participation of a distinct SWI/SNF-type chromatin-remodeling complex. Probably represses transcription from ACKR3, FGFBP1 and EFNA1.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | TAS | 7585125 |
| GO:0005515 | protein binding | IPI | 12052894 |
| GO:0042826 | histone deacetylase binding | IDA | 12052894 |
Phenotypes for HIC1 Gene
- MGI mutant phenotypes for HIC1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for HIC1:
Animal Model Products
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CRISPR Products
-
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-
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miRNA for HIC1 Gene
- miRTarBase miRNAs that target HIC1
-
- hsa-mir-335-5p (MIRT017725)
- hsa-mir-3175 (MIRT286061)
- hsa-mir-6777-5p (MIRT286071)
- hsa-mir-6889-5p (MIRT286073)
- hsa-mir-4749-5p (MIRT487220)
- hsa-mir-4706 (MIRT487221)
- hsa-mir-18a-3p (MIRT487222)
- hsa-mir-324-3p (MIRT487223)
- hsa-mir-1913 (MIRT487224)
- hsa-mir-4781-5p (MIRT487226)
- hsa-mir-19b-3p (MIRT727500)
- hsa-mir-19a-3p (MIRT727501)
miRNA Products
- Search ViGene Biosciences for HIC1
Inhibitory RNA Products
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-
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Cell Line Products
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-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HIC1 Gene
Localization for HIC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIC1 Gene
- Nucleus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISS | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for HIC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Direct p53 effectors | ||
| 2 | E2F transcription factor network | ||
Pathways by source for HIC1 Gene
2 BioSystems pathways for HIC1 Gene
Interacting Proteins for HIC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | ISS | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | TAS | 7585125 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | IDA | 16269335 |
No data available for SIGNOR curated interactions for HIC1 Gene
Transcripts for HIC1 Gene
mRNA/cDNA for HIC1 Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (23) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIC1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIC1
-
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miRNA Products
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Inhibitory RNA Products
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-
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Flow Cytometry Products
Expression for HIC1 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
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIC1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HIC1 Gene:
HIC1SOURCE GeneReport for Unigene cluster for HIC1 Gene:
Hs.72956mRNA Expression by UniProt/SwissProt for HIC1 Gene:
Q14526-HIC1_HUMANEvidence on tissue expression from TISSUES for HIC1 Gene
- Liver(4.2)
- Nervous system(4.1)
- Lung(3.2)
- Pancreas(2.9)
- Intestine(2.8)
- Eye(2.4)
- Thyroid gland(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HIC1 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- chin
- cranial nerve
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- pharynx
- skull
- tooth
- bronchus
- heart
- lung
- trachea
- abdominal wall
- biliary tract
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
- pelvis
- placenta
- testicle
- uterus
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for HIC1
No data available for mRNA differential expression in normal tissues for HIC1 Gene
Orthologs for HIC1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIC1 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HIC1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HIC1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100912068 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hic1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HIC1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HIC1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HIC1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hic1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hic1 34 35 |
|
- Species where no ortholog for HIC1 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)
- 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)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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 HIC1 Gene
(29) SIMAP similar genes for HIC1 Gene using alignment to 7 proteins:
Variants for HIC1 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000073456 | -- | 2,059,894(+) | CAAAC(A/G)GGACA | downstream-variant-500B, utr-variant-3-prime | |
| rs1000699005 | -- | 2,055,477(+) | GAGAG(C/G)CGAGG | intron-variant, upstream-variant-2KB | |
| rs1000831836 | -- | 2,053,382(+) | TAGAA(A/G)AACTC | upstream-variant-2KB | |
| rs1001134941 | -- | 2,053,477(+) | GGCCG(C/T)AGCAC | upstream-variant-2KB | |
| rs1001281747 | -- | 2,057,841(+) | GGAGA(A/C)CGGTA | reference, missense |
Relevant External Links for HIC1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIC1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIC1 Gene
Disorders for HIC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| miller-dieker lissencephaly syndrome |
|
|
| medulloblastoma |
|
|
| spinal cord ependymoma |
|
|
Relevant External Links for HIC1
No data available for UniProtKB/Swiss-Prot and Genatlas for HIC1 Gene
Publications for HIC1 Gene
- Scavenger chemokine (CXC motif) receptor 7 (CXCR7) is a direct target gene of HIC1 (hypermethylated in cancer 1). (PMID: 19525223) Van Rechem C. … Leprince D. (J. Biol. Chem. 2009) 3 4 22 64
- An acetylation/deacetylation-SUMOylation switch through a phylogenetically conserved psiKXEP motif in the tumor suppressor HIC1 regulates transcriptional repression activity. (PMID: 17283066) Stankovic-Valentin N. … Leprince D. (Mol. Cell. Biol. 2007) 3 4 22 64
- HIC1 attenuates Wnt signaling by recruitment of TCF-4 and beta- catenin to the nuclear bodies. (PMID: 16724116) Valenta T. … Korinek V. (EMBO J. 2006) 3 4 22 64
- A L225A substitution in the human tumour suppressor HIC1 abolishes its interaction with the corepressor CtBP. (PMID: 16762039) Stankovic-Valentin N. … Leprince D. (FEBS J. 2006) 3 4 22 64
- The tumor suppressor gene HIC1 (hypermethylated in cancer 1) is a sequence-specific transcriptional repressor: definition of its consensus binding sequence and analysis of its DNA binding and repressive properties. (PMID: 15231840) Pinte S. … Leprince D. (J. Biol. Chem. 2004) 3 4 22 64
Products for HIC1 Gene
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- antibodies-online Antibodies for HIC1: See all 71
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIC1 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




