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Aliases for RCBTB2 Gene

Aliases for RCBTB2 Gene

  • RCC1 And BTB Domain Containing Protein 2 2 3 5
  • Regulator Of Chromosome Condensation (RCC1) And BTB (POZ) Domain Containing Protein 2 2 3
  • Chromosome Condensation 1-Like 2 4
  • CHC1L 3 4
  • RLG 3 4
  • Regulator Of Chromosome Condensation And BTB Domain-Containing Protein 2 4
  • RCC1 And BTB Domain-Containing Protein 2 3
  • RCC1-Like G Exchanging Factor RLG 3
  • RCC1-Like G Exchanging Factor 4
  • CHC1-L 4

External Ids for RCBTB2 Gene

Previous HGNC Symbols for RCBTB2 Gene

  • CHC1L

Previous GeneCards Identifiers for RCBTB2 Gene

  • GC13M047962
  • GC13M049063
  • GC13M029855

Summaries for RCBTB2 Gene

Entrez Gene Summary for RCBTB2 Gene

  • This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

GeneCards Summary for RCBTB2 Gene

RCBTB2 (RCC1 And BTB Domain Containing Protein 2) is a Protein Coding gene. Diseases associated with RCBTB2 include Pleomorphic Lipoma. Gene Ontology (GO) annotations related to this gene include Ran guanyl-nucleotide exchange factor activity. An important paralog of this gene is RCBTB1.

Gene Wiki entry for RCBTB2 Gene

Additional gene information for RCBTB2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCBTB2 Gene

Genomics for RCBTB2 Gene

GeneHancer (GH) Regulatory Elements for RCBTB2 Gene

Promoters and enhancers for RCBTB2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J048530 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 657.7 +0.6 584 3.7 HDGF MLX ZFP64 ARID4B DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF766 RCBTB2 GC13P048533 GC13P048532 ENSG00000274929 PPP1R26P1 LINC00462 SETDB2 RB1 LPAR6
GH13J048535 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.7 -2.7 -2659 0.1 RCBTB2 GC13P048533 LOC105370201 RB1
GH13J048498 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +33.0 32973 3.1 HLF ZSCAN4 MAX CEBPB FOS MAFK EMSY MYC RCBTB2 RB1 FNDC3A LPAR6 PCNPP5 GC13P048483 ENSG00000274929
GH13J048567 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.5 -37.7 -37745 8 ELF3 SOX13 PKNOX1 FOXA2 SAP130 CEBPG RAD21 RARA ZKSCAN1 YY1 LOC105370201 RB1 RCBTB2 FNDC3A LPAR6 RB1-DT CYSLTR2 LINC01077 GC13P048533
GH13J048577 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.6 -45.4 -45404 2.9 PKNOX1 STAT5A BMI1 BATF IRF4 YY1 ZNF143 ATF7 ETV6 BCLAF1 LINC00462 RB1 RCBTB2 LPAR6 FNDC3A ITM2B LINC01077 GC13P048533
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCBTB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RCBTB2 gene promoter:
  • HFH-3
  • FOXI1
  • Evi-1
  • E2F-1
  • E2F
  • C/EBPalpha
  • ER-alpha
  • ZID
  • IRF-1
  • PPAR-alpha

Genomic Locations for RCBTB2 Gene

Genomic Locations for RCBTB2 Gene
44,298 bases
Minus strand
44,275 bases
Minus strand

Genomic View for RCBTB2 Gene

Genes around RCBTB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCBTB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCBTB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCBTB2 Gene

Proteins for RCBTB2 Gene

  • Protein details for RCBTB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    RCC1 and BTB domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • B2RDW8

    Protein attributes for RCBTB2 Gene

    551 amino acids
    Molecular mass:
    60315 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RCBTB2 Gene


neXtProt entry for RCBTB2 Gene

Post-translational modifications for RCBTB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RCBTB2 Gene

Domains & Families for RCBTB2 Gene

Gene Families for RCBTB2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RCBTB2 Gene

Graphical View of Domain Structure for InterPro Entry



  • The BTB domain might play a role in targeting to acrosomal vesicles.
  • The BTB domain might play a role in targeting to acrosomal vesicles.
genes like me logo Genes that share domains with RCBTB2: view

Function for RCBTB2 Gene

Phenotypes From GWAS Catalog for RCBTB2 Gene

Gene Ontology (GO) - Molecular Function for RCBTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005087 Ran guanyl-nucleotide exchange factor activity TAS 9806834
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RCBTB2: view

Phenotypes for RCBTB2 Gene

genes like me logo Genes that share phenotypes with RCBTB2: view

Animal Model Products

miRNA for RCBTB2 Gene

miRTarBase miRNAs that target RCBTB2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RCBTB2 Gene

Localization for RCBTB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCBTB2 Gene

Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Mainly found in the acrosomal cap region. {ECO:0000250 UniProtKB:Q99LJ7}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RCBTB2 gene
Compartment Confidence
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCBTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with RCBTB2: view

Pathways & Interactions for RCBTB2 Gene

SuperPathways for RCBTB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RCBTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with RCBTB2: view

No data available for Pathways by source and SIGNOR curated interactions for RCBTB2 Gene

Drugs & Compounds for RCBTB2 Gene

No Compound Related Data Available

Transcripts for RCBTB2 Gene

mRNA/cDNA for RCBTB2 Gene

(22) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RCBTB2 Gene

Regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RCBTB2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13 ^
SP1: - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - -
SP9: - -
SP10: -
SP11: - - - - - - - -
SP13: - - - - - - - - - - - - - - - -

ExUns: 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
SP1: - - - - -
SP2: - - - - -
SP16: - - -
SP17: -

Relevant External Links for RCBTB2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RCBTB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RCBTB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RCBTB2 Gene

This gene is overexpressed in Frontal cortex (48.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RCBTB2 Gene

Protein tissue co-expression partners for RCBTB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RCBTB2 Gene:


SOURCE GeneReport for Unigene cluster for RCBTB2 Gene:


Evidence on tissue expression from TISSUES for RCBTB2 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with RCBTB2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCBTB2 Gene

Orthologs for RCBTB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RCBTB2 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia RCBTB2 34
  • 95 (a)
(Pan troglodytes)
Mammalia RCBTB2 34 33
  • 94.73 (n)
(Bos Taurus)
Mammalia RCBTB2 34 33
  • 90.45 (n)
(Ornithorhynchus anatinus)
Mammalia RCBTB2 34
  • 90 (a)
(Mus musculus)
Mammalia Rcbtb2 16 34 33
  • 89.37 (n)
(Rattus norvegicus)
Mammalia Rcbtb2 33
  • 88.8 (n)
(Monodelphis domestica)
Mammalia RCBTB2 34
  • 86 (a)
(Gallus gallus)
Aves RCBTB2 34 33
  • 81.88 (n)
(Anolis carolinensis)
Reptilia RCBTB2 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rcbtb2 33
  • 73.83 (n)
Str.15041 33
African clawed frog
(Xenopus laevis)
Amphibia chc1l-A-prov 33
(Danio rerio)
Actinopterygii rcbtb2 34 33
  • 69.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta ca 34
  • 6 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRM1 34
  • 18 (a)
FMP25 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9432 34
  • 48 (a)
Species where no ortholog for RCBTB2 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RCBTB2 Gene

Gene Tree for RCBTB2 (if available)
Gene Tree for RCBTB2 (if available)
Evolutionary constrained regions (ECRs) for RCBTB2: view image

Paralogs for RCBTB2 Gene

Paralogs for RCBTB2 Gene

(2) SIMAP similar genes for RCBTB2 Gene using alignment to 4 proteins:

  • B4E372_HUMAN Pseudogenes for RCBTB2 Gene

genes like me logo Genes that share paralogs with RCBTB2: view

Variants for RCBTB2 Gene

Sequence variations from dbSNP and Humsavar for RCBTB2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000097334 -- 48,517,780(-) C/G intron_variant
rs1000186103 -- 48,532,984(-) C/A/T intron_variant
rs1000197989 -- 48,536,216(-) G/A upstream_transcript_variant
rs1000239366 -- 48,504,839(-) G/C intron_variant
rs1000251667 -- 48,534,773(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RCBTB2 Gene

Variant ID Type Subtype PubMed ID
esv2520493 CNV deletion 19546169
esv3352426 CNV insertion 20981092
esv3384312 CNV duplication 20981092
nsv832602 CNV loss 17160897
nsv832604 CNV loss 17160897

Variation tolerance for RCBTB2 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCBTB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCBTB2 Gene

Disorders for RCBTB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RCBTB2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pleomorphic lipoma
  • lipomatosis, multiple
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RCBTB2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RCBTB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCBTB2 Gene

Publications for RCBTB2 Gene

  1. cDNA cloning, gene characterization and 13q14.3 chromosomal assignment of CHC1-L, a chromosome condensation regulator-like guanine nucleotide exchange factor. (PMID: 9806834) Devilder MC … Moisan JP (Genomics 1998) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RCBTB2 Gene

Sources for RCBTB2 Gene

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