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    RCBTB2 RCC1 and BTB domain containing protein 2 [ Homo sapiens (human) ]

    Gene ID: 1102, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RCBTB2provided by HGNC
    Official Full Name
    RCC1 and BTB domain containing protein 2provided by HGNC
    Primary source
    HGNC:HGNC:1914
    See related
    Ensembl:ENSG00000136161 MIM:603524; AllianceGenome:HGNC:1914
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RLG; CHC1L
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.8), ovary (RPKM 6.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RCBTB2 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (48488963..48535895, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (47709252..47756180, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (49063099..49110031, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RB transcriptional corepressor 1 Neighboring gene uncharacterized LOC112268118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:48985733-48986234 Neighboring gene lysophosphatidic acid receptor 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5334 Neighboring gene uncharacterized LOC124903173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7731 Neighboring gene uncharacterized LOC124903174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7734 Neighboring gene long intergenic non-protein coding RNA 1077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7736 Neighboring gene uncharacterized LOC105370202 Neighboring gene Sharpr-MPRA regulatory region 13035 Neighboring gene long intergenic non-protein coding RNA 462

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CHC1-L, a candidate gene for prostate carcinogenesis at 13q14.2, is frequently affected by loss of heterozygosity and underexpressed in human prostate cancer. Latil A, et al. Int J Cancer, 2002 Jun 10. PMID 12115502
    2. Extensive analysis of the 13q14 region in human prostate tumors: DNA analysis and quantitative expression of genes lying in the interval of deletion. Latil A, et al. Prostate, 2003 Sep 15. PMID 12886522
    3. A culture device demonstrates that hydrostatic pressure increases mRNA of RGS5 in neuroblastoma and CHC1-L in lymphocytic cells. Manome Y, et al. Cells Tissues Organs, 2003. PMID 14504426
    4. Low expression of ZHX2, but not RCBTB2 or RAN, is associated with poor outcome in multiple myeloma. Armellini A, et al. Br J Haematol, 2008 Apr. PMID 18353163
    5. Expression of RAN, ZHX-2, and CHC1L genes in multiple myeloma patients and in myeloma cell lines treated with HDAC and Dnmts inhibitors. Legartova S, et al. Neoplasma, 2010. PMID 20568903

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients.
      Title: Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. decreased expression in prostate cancer associated with the difference in frequency of variant isoforms between normal and neoplastic prostate tissues places it in a pivotal role or possibly adjacent to a gene with that role in prostate cancer evolution
      Title: CHC1-L, a candidate gene for prostate carcinogenesis at 13q14.2, is frequently affected by loss of heterozygosity and underexpressed in human prostate cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymph node development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spleen development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RCC1 and BTB domain-containing protein 2
    Names
    RCC1-like G exchanging factor RLG
    regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001268.4 → NP_001259.1  RCC1 and BTB domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001259.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2, 5, and 6 all encode the same isoform (2).
      Source sequence(s)
      AF060219, BC029052, BG772479
      Consensus CDS
      CCDS9411.1
      UniProtKB/Swiss-Prot
      B2RDW8, O95199
      UniProtKB/TrEMBL
      B3KMY7
      Related
      ENSP00000345144.3, ENST00000344532.8
      Conserved Domains (3) summary
      COG5184
      Location:67 → 340
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd18354
      Location:374 → 490
      BTB_POZ_RCBTB2_CHC1L; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)
      cd18529
      Location:487 → 551
      BACK_RCBTB2; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)

    2. NM_001286830.2 → NP_001273759.1  RCC1 and BTB domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001273759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB209543, AK301516, BC029052
      Consensus CDS
      CCDS73572.1
      UniProtKB/TrEMBL
      B3KMY7, B4DWG0
      Related
      ENSP00000389910.2, ENST00000430805.6
      Conserved Domains (3) summary
      smart00225
      Location:400 → 492
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:492 → 550
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:72 → 345
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    3. NM_001286831.2 → NP_001273760.1  RCC1 and BTB domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001273760.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 7 both encode the same isoform (3).
      Source sequence(s)
      AB209543, BC029052
      Consensus CDS
      CCDS73571.1
      UniProtKB/TrEMBL
      B3KMY7
      Related
      ENSP00000443904.2, ENST00000544904.3
      Conserved Domains (3) summary
      COG5184
      Location:43 → 316
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd18354
      Location:350 → 466
      BTB_POZ_RCBTB2_CHC1L; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)
      cd18529
      Location:463 → 527
      BACK_RCBTB2; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)

    4. NM_001286832.2 → NP_001273761.1  RCC1 and BTB domain-containing protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001273761.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, contains multiple differences in the 5' coding region, and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1. Variants 4, 8, and 9 all encode the same isoform (4).
      Source sequence(s)
      AB209543, AK304598, BC029052
      Consensus CDS
      CCDS73570.1
      UniProtKB/TrEMBL
      B4E372
      Related
      ENSP00000443862.1, ENST00000544492.5
      Conserved Domains (2) summary
      smart00225
      Location:121 → 213
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:213 → 271
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins

    5. NM_001352424.2 → NP_001339353.1  RCC1 and BTB domain-containing protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 2 and 6, encodes isoform 2.
      Source sequence(s)
      AL157813
      Consensus CDS
      CCDS9411.1
      UniProtKB/Swiss-Prot
      B2RDW8, O95199
      UniProtKB/TrEMBL
      B3KMY7
      Conserved Domains (3) summary
      COG5184
      Location:67 → 340
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd18354
      Location:374 → 490
      BTB_POZ_RCBTB2_CHC1L; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)
      cd18529
      Location:487 → 551
      BACK_RCBTB2; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)

    6. NM_001352425.2 → NP_001339354.1  RCC1 and BTB domain-containing protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2 and 5, encodes isoform 2.
      Source sequence(s)
      AL157813
      Consensus CDS
      CCDS9411.1
      UniProtKB/Swiss-Prot
      B2RDW8, O95199
      UniProtKB/TrEMBL
      B3KMY7
      Conserved Domains (3) summary
      COG5184
      Location:67 → 340
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd18354
      Location:374 → 490
      BTB_POZ_RCBTB2_CHC1L; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)
      cd18529
      Location:487 → 551
      BACK_RCBTB2; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)

    7. NM_001352426.2 → NP_001339355.1  RCC1 and BTB domain-containing protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 3, encodes isoform 3.
      Source sequence(s)
      AL157813
      Consensus CDS
      CCDS73571.1
      UniProtKB/TrEMBL
      B3KMY7
      Conserved Domains (3) summary
      COG5184
      Location:43 → 316
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd18354
      Location:350 → 466
      BTB_POZ_RCBTB2_CHC1L; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)
      cd18529
      Location:463 → 527
      BACK_RCBTB2; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 2 (RCBTB2)

    8. NM_001352427.2 → NP_001339356.1  RCC1 and BTB domain-containing protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 4 and 9, encodes isoform 4.
      Source sequence(s)
      AL157813
      Consensus CDS
      CCDS73570.1
      UniProtKB/TrEMBL
      B4E372
      Conserved Domains (2) summary
      smart00225
      Location:121 → 213
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:213 → 271
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins

    9. NM_001352428.2 → NP_001339357.1  RCC1 and BTB domain-containing protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 4 and 8, encodes isoform 4.
      Source sequence(s)
      AL157813
      Consensus CDS
      CCDS73570.1
      UniProtKB/TrEMBL
      B4E372
      Conserved Domains (2) summary
      smart00225
      Location:121 → 213
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:213 → 271
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins

    10. NM_001352429.2 → NP_001339358.1  RCC1 and BTB domain-containing protein 2 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AL157813
      UniProtKB/TrEMBL
      B3KMY7
      Conserved Domains (3) summary
      smart00225
      Location:399 → 491
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:491 → 549
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:71 → 344
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    11. NM_001352430.2 → NP_001339359.1  RCC1 and BTB domain-containing protein 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL157813
      UniProtKB/TrEMBL
      B4DPP7
      Conserved Domains (1) summary
      cl27697
      Location:67 → 262
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    12. NM_001352431.2 → NP_001339360.1  RCC1 and BTB domain-containing protein 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL157813
      UniProtKB/TrEMBL
      B4DPP7
      Conserved Domains (1) summary
      cl27697
      Location:62 → 257
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    RNA

    1. NR_147985.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL157813

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      48488963..48535895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534894.4 → XP_011533196.1  RCC1 and BTB domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011533196.1

      UniProtKB/TrEMBL
      B3KMY7, B4DWG0
      Conserved Domains (3) summary
      smart00225
      Location:400 → 492
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:492 → 550
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:72 → 345
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    2. XM_047430067.1 → XP_047286023.1  RCC1 and BTB domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KMY7

    3. XM_047430069.1 → XP_047286025.1  RCC1 and BTB domain-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      B4DPP7

    4. XM_047430068.1 → XP_047286024.1  RCC1 and BTB domain-containing protein 2 isoform X3

    RNA

    1. XR_007063658.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      47709252..47756180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374056.1 → XP_054230031.1  RCC1 and BTB domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B3KMY7, B4DWG0

    2. XM_054374055.1 → XP_054230030.1  RCC1 and BTB domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KMY7

    3. XM_054374058.1 → XP_054230033.1  RCC1 and BTB domain-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      B4DPP7

    4. XM_054374057.1 → XP_054230032.1  RCC1 and BTB domain-containing protein 2 isoform X3

    RNA

    1. XR_008488728.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95199.1 GenPept UniProtKB/Swiss-Prot:O95199

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