RPF2 (ribosome production factor 2 homolog) - Rat Genome Database
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Gene: RPF2 (ribosome production factor 2 homolog) Homo sapiens
Analyze
Symbol: RPF2
Name: ribosome production factor 2 homolog
RGD ID: 1315787
HGNC Page HGNC
Description: Exhibits 5S rRNA binding activity. Involved in protein localization to nucleolus; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Localizes to nucleolus and nucleoplasm; INTERACTS WITH 17beta-estradiol; 2-hydroxypropanoic acid; 3-isobutyl-1-methyl-7H-xanthine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bA397G5.4; brix domain containing 1; brix domain-containing protein 1; BXDC1; FLJ21087; homolog of Rpf2; ribosomal processing factor 2 homolog; ribosome biogenesis protein RPF2 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RPF2P1   RPF2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6110,982,015 - 111,028,263 (+)EnsemblGRCh38hg38GRCh38
GRCh386110,982,038 - 111,028,263 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376111,303,274 - 111,347,299 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366111,409,984 - 111,453,487 (+)NCBINCBI36hg18NCBI36
Celera6112,049,860 - 112,093,367 (+)NCBI
Cytogenetic Map6q21NCBI
HuRef6108,874,129 - 108,917,809 (+)NCBIHuRef
CHM1_16111,566,290 - 111,612,540 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IDA)
nucleolus  (IBA,IDA,IEA)
nucleoplasm  (IDA)

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12048200   PMID:12429849   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15635413   PMID:17207965   PMID:17353931   PMID:18029348   PMID:19170763   PMID:19490893   PMID:19615732  
PMID:21832049   PMID:21873635   PMID:22199357   PMID:22268729   PMID:22586326   PMID:22658674   PMID:22681889   PMID:24120868   PMID:24457600   PMID:24515614   PMID:24639526   PMID:24711643  
PMID:25665578   PMID:25693804   PMID:25948554   PMID:26186194   PMID:26344197   PMID:26638075   PMID:26949251   PMID:27049334   PMID:27432908   PMID:28380382   PMID:28514442   PMID:28611215  
PMID:29298432   PMID:29395067   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29802200   PMID:30021884   PMID:30033366   PMID:30196744   PMID:30209976   PMID:30404004   PMID:30463901  
PMID:30833792   PMID:30940648   PMID:30948266   PMID:31048545   PMID:31180492   PMID:31343991   PMID:31527615   PMID:31586073   PMID:31796584   PMID:31980649   PMID:32296183   PMID:32877691  


Genomics

Comparative Map Data
RPF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6110,982,015 - 111,028,263 (+)EnsemblGRCh38hg38GRCh38
GRCh386110,982,038 - 111,028,263 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376111,303,274 - 111,347,299 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366111,409,984 - 111,453,487 (+)NCBINCBI36hg18NCBI36
Celera6112,049,860 - 112,093,367 (+)NCBI
Cytogenetic Map6q21NCBI
HuRef6108,874,129 - 108,917,809 (+)NCBIHuRef
CHM1_16111,566,290 - 111,612,540 (+)NCBICHM1_1
Rpf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391040,099,242 - 40,123,035 (-)NCBIGRCm39mm39
GRCm381040,223,246 - 40,247,039 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1040,223,246 - 40,247,036 (-)EnsemblGRCm38mm10GRCm38
MGSCv371039,943,052 - 39,966,845 (-)NCBIGRCm37mm9NCBIm37
MGSCv361039,906,567 - 39,936,447 (-)NCBImm8
Celera1041,110,053 - 41,133,833 (-)NCBICelera
Cytogenetic Map10B1NCBI
Rpf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02045,321,381 - 45,342,865 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2045,321,405 - 45,342,948 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02047,041,336 - 47,062,600 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42044,388,637 - 44,410,093 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12044,411,626 - 44,433,112 (-)NCBI
Celera2044,336,784 - 44,358,198 (-)NCBICelera
Cytogenetic Map20q12NCBI
Rpf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541135,627,127 - 35,663,903 (+)NCBIChiLan1.0ChiLan1.0
RPF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16112,862,627 - 112,908,059 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6112,862,627 - 112,908,061 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06108,781,082 - 108,827,783 (+)NCBIMhudiblu_PPA_v0panPan3
RPF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1267,490,780 - 67,557,609 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11267,516,991 - 67,566,287 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rpf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365646,734,872 - 6,765,370 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl176,917,185 - 77,131,431 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1176,917,114 - 76,959,227 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2186,305,739 - 86,345,805 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPF2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11362,856,730 - 62,890,934 (-)NCBI
Rpf2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249161,932,773 - 1,967,935 (+)NCBI

Position Markers
D6S1698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376111,315,859 - 111,316,017UniSTSGRCh37
Build 366111,422,552 - 111,422,710RGDNCBI36
Celera6112,062,428 - 112,062,590RGD
Cytogenetic Map6q21UniSTS
HuRef6108,886,694 - 108,886,856UniSTS
Marshfield Genetic Map6118.08RGD
Marshfield Genetic Map6118.08UniSTS
Genethon Genetic Map6118.1UniSTS
deCODE Assembly Map6115.39UniSTS
Whitehead-YAC Contig Map6 UniSTS
RH123544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376111,304,006 - 111,304,336UniSTSGRCh37
Build 366111,410,699 - 111,411,029RGDNCBI36
Celera6112,050,575 - 112,050,905RGD
Cytogenetic Map6q21UniSTS
HuRef6108,874,844 - 108,875,174UniSTS
D18S21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37188,562,482 - 8,562,642UniSTSGRCh37
Build 36188,552,482 - 8,552,642RGDNCBI36
Celera188,446,822 - 8,446,982RGD
HuRef188,526,855 - 8,527,015UniSTS
REN58984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,340,783 - 34,341,032UniSTSGRCh37
Build 362033,804,197 - 33,804,446RGDNCBI36
Celera2031,089,075 - 31,089,324RGD
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6q21UniSTS
HuRef2031,118,524 - 31,118,773UniSTS
REN58985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,341,014 - 34,341,268UniSTSGRCh37
Build 362033,804,428 - 33,804,682RGDNCBI36
Celera2031,089,306 - 31,089,560RGD
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6q21UniSTS
HuRef2031,118,755 - 31,119,009UniSTS
REN58986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,341,267 - 34,341,491UniSTSGRCh37
Build 362033,804,681 - 33,804,905RGDNCBI36
Celera2031,089,559 - 31,089,783RGD
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6q21UniSTS
HuRef2031,119,008 - 31,119,232UniSTS
D22S1584  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map10q24.2UniSTS
L17709  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3q27UniSTS
D18S21  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q21UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5p13-p12UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic MapXp11.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1546
Count of miRNA genes:759
Interacting mature miRNAs:876
Transcripts:ENST00000368864, ENST00000425871, ENST00000441448, ENST00000607388
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1500 1329 1173 312 840 260 3515 1361 1106 290 1384 1323 66 1075 2239 3
Low 938 1597 552 311 1047 204 841 835 2620 128 72 288 109 1 129 549 1 1
Below cutoff 62 1 62 1 6 1 3 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000368864   ⟹   ENSP00000357857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6110,982,015 - 111,024,327 (+)Ensembl
RefSeq Acc Id: ENST00000425871   ⟹   ENSP00000414026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6110,982,316 - 111,024,327 (+)Ensembl
RefSeq Acc Id: ENST00000441448   ⟹   ENSP00000402338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6110,982,038 - 111,028,263 (+)Ensembl
RefSeq Acc Id: ENST00000607388   ⟹   ENSP00000476081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6110,982,050 - 111,028,263 (+)Ensembl
RefSeq Acc Id: NM_001289111   ⟹   NP_001276040
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,982,038 - 111,028,263 (+)NCBI
HuRef6108,874,058 - 108,920,481 (+)NCBI
CHM1_16111,566,290 - 111,612,540 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032194   ⟹   NP_115570
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,982,038 - 111,028,263 (+)NCBI
GRCh376111,303,274 - 111,347,299 (+)NCBI
Build 366111,409,984 - 111,453,487 (+)NCBI Archive
Celera6112,049,860 - 112,093,367 (+)RGD
HuRef6108,874,058 - 108,920,481 (+)NCBI
CHM1_16111,566,290 - 111,612,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011354   ⟹   XP_016866843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,996,346 - 111,028,263 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115570   ⟸   NM_032194
- Peptide Label: isoform 1
- UniProtKB: Q9H7B2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276040   ⟸   NM_001289111
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_016866843   ⟸   XM_017011354
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000414026   ⟸   ENST00000425871
RefSeq Acc Id: ENSP00000402338   ⟸   ENST00000441448
RefSeq Acc Id: ENSP00000357857   ⟸   ENST00000368864
RefSeq Acc Id: ENSP00000476081   ⟸   ENST00000607388
Protein Domains
Brix

Promoters
RGD ID:7208899
Promoter ID:EPDNEW_H10195
Type:initiation region
Name:RPF2_1
Description:ribosome production factor 2 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,982,038 - 110,982,098EPDNEW
RGD ID:6803825
Promoter ID:HG_KWN:54650
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000041813,   OTTHUMT00000041814,   OTTHUMT00000041815,   UC003PUO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366111,409,186 - 111,409,997 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q21(chr6:110020558-111200711)x3 copy number gain See cases [RCV000141546] Chr6:110020558..111200711 [GRCh38]
Chr6:110341761..111521914 [GRCh37]
Chr6:110448454..111628607 [NCBI36]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
GRCh37/hg19 6q21(chr6:109564793-112223595)x1 copy number loss See cases [RCV000447293] Chr6:109564793..112223595 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1		 pathogenic
GRCh37/hg19 6q21(chr6:110419878-111698827)x1 copy number loss not provided [RCV000682707] Chr6:110419878..111698827 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NM_032194.3(RPF2):c.178G>A (p.Gly60Ser) single nucleotide variant not provided [RCV000956403] Chr6:110989049 [GRCh38]
Chr6:111310252 [GRCh37]
Chr6:6q21		 benign
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1		 pathogenic
GRCh37/hg19 6q21(chr6:109564694-112232351)x1 copy number loss not provided [RCV001007557] Chr6:109564694..112232351 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20870 AgrOrtholog
COSMIC RPF2 COSMIC
Ensembl Genes ENSG00000197498 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000357857 UniProtKB/TrEMBL
  ENSP00000402338 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000414026 UniProtKB/TrEMBL
  ENSP00000476081 UniProtKB/TrEMBL
Ensembl Transcript ENST00000368864 UniProtKB/TrEMBL
  ENST00000425871 UniProtKB/TrEMBL
  ENST00000441448 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000607388 UniProtKB/TrEMBL
GTEx ENSG00000197498 GTEx
HGNC ID HGNC:20870 ENTREZGENE
Human Proteome Map RPF2 Human Proteome Map
InterPro Brix UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rpf2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84154 UniProtKB/Swiss-Prot
NCBI Gene 84154 ENTREZGENE
OMIM 618471 OMIM
PANTHER PTHR12728 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Brix UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165618192 PharmGKB
PROSITE BRIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Brix UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.372265 ENTREZGENE
UniProt Q5VXM9_HUMAN UniProtKB/TrEMBL
  Q5VXN0_HUMAN UniProtKB/TrEMBL
  Q9H7B2 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KQN5_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5VXN1 UniProtKB/Swiss-Prot
  Q8N4A1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-28 RPF2  ribosome production factor 2 homolog    ribosome production factor 2 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-07-27 RPF2  ribosome production factor 2 homolog (S. cerevisiae)  BXDC1  brix domain containing 1  Symbol and/or name change 5135510 APPROVED