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

    Gene ID: 1102, updated on 12-Aug-2018

    Summary

    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; Vega:OTTHUMG00000016902
    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

    Genomic context

    See RCBTB2 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (48488963..48535997, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (49063099..49107341, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RB transcriptional corepressor 1 Neighboring gene uncharacterized LOC112268118 Neighboring gene lysophosphatidic acid receptor 6 Neighboring gene uncharacterized LOC105370201 Neighboring gene long intergenic non-protein coding RNA 462

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Ran guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    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_001268.3NP_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, DB497652
      Consensus CDS
      CCDS9411.1
      UniProtKB/Swiss-Prot
      O95199
      Related
      ENSP00000345144.3, OTTHUMP00000018399, ENST00000344532.7, OTTHUMT00000044888
      Conserved Domains (3) summary
      smart00225
      Location:395487
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:487545
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:67340
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    2. NM_001286830.1NP_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, BG772479, DB497652
      Consensus CDS
      CCDS73572.1
      UniProtKB/Swiss-Prot
      O95199
      UniProtKB/TrEMBL
      B4DWG0, Q59FB7
      Related
      ENSP00000389910.2, ENST00000430805.6
      Conserved Domains (3) summary
      smart00225
      Location:400492
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:492550
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:72345
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    3. NM_001286831.1NP_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, BG772479, DB497652
      Consensus CDS
      CCDS73571.1
      UniProtKB/Swiss-Prot
      O95199
      UniProtKB/TrEMBL
      Q59FB7
      Related
      ENSP00000443904.2, ENST00000544904.3
      Conserved Domains (3) summary
      smart00225
      Location:371463
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:463521
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    4. NM_001286832.1NP_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, BG772479, DB497652
      Consensus CDS
      CCDS73570.1
      UniProtKB/Swiss-Prot
      O95199
      UniProtKB/TrEMBL
      B4E372, Q59FB7
      Related
      ENSP00000443862.1, ENST00000544492.5
      Conserved Domains (2) summary
      smart00225
      Location:121213
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:213271
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
    5. NM_001352424.1NP_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
      Conserved Domains (3) summary
      smart00225
      Location:395487
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:487545
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:67340
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    6. NM_001352425.1NP_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
      Conserved Domains (3) summary
      smart00225
      Location:395487
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:487545
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:67340
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    7. NM_001352426.1NP_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
      Conserved Domains (3) summary
      smart00225
      Location:371463
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:463521
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    8. NM_001352427.1NP_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
      Conserved Domains (2) summary
      smart00225
      Location:121213
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:213271
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
    9. NM_001352428.1NP_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
      Conserved Domains (2) summary
      smart00225
      Location:121213
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:213271
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
    10. NM_001352429.1NP_001339358.1  RCC1 and BTB domain-containing protein 2 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AL157813
      Conserved Domains (3) summary
      smart00225
      Location:399491
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:491549
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:71344
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    11. NM_001352430.1NP_001339359.1  RCC1 and BTB domain-containing protein 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL157813
      Conserved Domains (1) summary
      cl27697
      Location:67262
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    12. NM_001352431.1NP_001339360.1  RCC1 and BTB domain-containing protein 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL157813
      Conserved Domains (1) summary
      cl27697
      Location:62257
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    RNA

    1. NR_147985.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL157813

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      48488963..48535997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020379.1XP_016875868.1  RCC1 and BTB domain-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      B4E372
      Conserved Domains (2) summary
      smart00225
      Location:121213
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:213271
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
    2. XM_017020369.1XP_016875858.1  RCC1 and BTB domain-containing protein 2 isoform X1

    3. XM_017020371.2XP_016875860.1  RCC1 and BTB domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B4DWG0
      Conserved Domains (3) summary
      smart00225
      Location:400492
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:492550
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:72345
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    4. XM_017020372.1XP_016875861.1  RCC1 and BTB domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B4DWG0
      Conserved Domains (3) summary
      smart00225
      Location:400492
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:492550
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:72345
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    5. XM_017020370.1XP_016875859.1  RCC1 and BTB domain-containing protein 2 isoform X1

    6. XM_011534894.3XP_011533196.1  RCC1 and BTB domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011533196.1

      UniProtKB/TrEMBL
      B4DWG0
      Conserved Domains (3) summary
      smart00225
      Location:400492
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:492550
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:72345
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    7. XM_017020375.1XP_016875864.1  RCC1 and BTB domain-containing protein 2 isoform X3

    8. XM_017020374.1XP_016875863.1  RCC1 and BTB domain-containing protein 2 isoform X3

    9. XM_017020377.1XP_016875866.1  RCC1 and BTB domain-containing protein 2 isoform X5

    10. XM_017020376.1XP_016875865.1  RCC1 and BTB domain-containing protein 2 isoform X4

    RNA

    1. XR_941471.2 RNA Sequence

    2. XR_001749469.1 RNA Sequence

    3. XR_941470.2 RNA Sequence

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