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

Gene ID: 1102, updated on 2-Nov-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
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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 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)

Genotypes

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

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

  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
    B4DWG0

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

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

  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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