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

Gene ID: 1102, updated on 13-Mar-2020

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
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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_001268.4NP_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
    O95199
    Related
    ENSP00000345144.3, ENST00000344532.7
    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_001352424.2NP_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_001352425.2NP_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_001352426.2NP_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_001352427.2NP_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_001352428.2NP_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_001352429.2NP_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_147985.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL157813

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 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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