RSPO2 (R-spondin 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: RSPO2 (R-spondin 2) Homo sapiens
Analyze
Symbol: RSPO2
Name: R-spondin 2
RGD ID: 1603855
HGNC Page HGNC
Description: Exhibits signaling receptor binding activity. Involved in limb development and positive regulation of Wnt signaling pathway. Predicted to localize to extracellular region. Implicated in tetraamelia syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CRISTIN2; HHRRD; hRspo2; MGC35555; MGC43342; R-spondin 2 homolog; R-spondin-2; roof plate-specific spondin-2; TETAMS2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8107,899,316 - 108,083,642 (-)EnsemblGRCh38hg38GRCh38
GRCh388107,899,316 - 108,083,680 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378108,911,544 - 109,095,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368108,980,721 - 109,164,742 (-)NCBINCBI36hg18NCBI36
Celera8105,098,134 - 105,283,118 (-)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8104,233,209 - 104,418,017 (-)NCBIHuRef
CHM1_18108,951,793 - 109,136,161 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell surface  (IEA)
extracellular region  (IEA,NAS,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7829101   PMID:12477932   PMID:12975309   PMID:15469841   PMID:15489334   PMID:16344560   PMID:16357527   PMID:21160497   PMID:21732829   PMID:21873635   PMID:22076464   PMID:22127703  
PMID:22615920   PMID:22895193   PMID:23407710   PMID:23455924   PMID:24050775   PMID:24431302   PMID:24476626   PMID:24532711   PMID:24847761   PMID:24852883   PMID:25064007   PMID:25416956  
PMID:25504990   PMID:25769727   PMID:26052033   PMID:26269563   PMID:26416247   PMID:26635199   PMID:27374772   PMID:27571704   PMID:27572318   PMID:28219935   PMID:28600110   PMID:28651234  
PMID:28743298   PMID:29345973   PMID:29752411   PMID:29769720   PMID:30021884   PMID:30146491   PMID:30250044   PMID:30284717   PMID:30362605   PMID:30901310   PMID:30916365   PMID:30942431  
PMID:31097406   PMID:32296183   PMID:32305727   PMID:32432544   PMID:33320737  


Genomics

Comparative Map Data
RSPO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8107,899,316 - 108,083,642 (-)EnsemblGRCh38hg38GRCh38
GRCh388107,899,316 - 108,083,680 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378108,911,544 - 109,095,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368108,980,721 - 109,164,742 (-)NCBINCBI36hg18NCBI36
Celera8105,098,134 - 105,283,118 (-)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8104,233,209 - 104,418,017 (-)NCBIHuRef
CHM1_18108,951,793 - 109,136,161 (-)NCBICHM1_1
Rspo2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391542,884,184 - 43,034,990 (-)NCBIGRCm39mm39
GRCm39 Ensembl1542,884,190 - 43,034,222 (-)Ensembl
GRCm381543,020,788 - 43,171,594 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1543,020,794 - 43,170,826 (-)EnsemblGRCm38mm10GRCm38
MGSCv371542,852,341 - 43,002,364 (-)NCBIGRCm37mm9NCBIm37
MGSCv361542,850,869 - 43,000,892 (-)NCBImm8
Celera1543,503,080 - 43,653,511 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1516.73NCBI
Rspo2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2774,096,378 - 74,239,398 (-)NCBI
Rnor_6.0 Ensembl781,924,050 - 82,059,789 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0781,919,911 - 82,059,659 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0781,937,691 - 82,077,651 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4778,826,526 - 78,912,786 (-)NCBIRGSC3.4rn4RGSC3.4
Celera771,160,894 - 71,246,191 (-)NCBICelera
Cytogenetic Map7q31NCBI
Rspo2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541730,643,554 - 30,704,497 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541730,643,554 - 30,704,497 (-)NCBIChiLan1.0ChiLan1.0
RSPO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18106,685,116 - 106,870,494 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8106,685,116 - 106,870,494 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08104,535,751 - 104,721,463 (-)NCBIMhudiblu_PPA_v0panPan3
RSPO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1138,610,227 - 8,755,727 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl138,611,952 - 8,754,859 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha138,550,551 - 8,728,117 (-)NCBI
ROS_Cfam_1.0138,873,544 - 9,022,401 (-)NCBI
UMICH_Zoey_3.1138,627,417 - 8,772,877 (-)NCBI
UNSW_CanFamBas_1.0138,745,404 - 8,896,677 (-)NCBI
UU_Cfam_GSD_1.0138,823,008 - 8,971,462 (-)NCBI
Rspo2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530329,254,327 - 29,390,001 (+)NCBI
SpeTri2.0NW_00493647036,680,716 - 36,815,347 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RSPO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl429,414,806 - 29,579,674 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1429,415,774 - 29,577,890 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2431,802,835 - 31,967,808 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RSPO2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18102,632,060 - 102,804,181 (-)NCBI
ChlSab1.1 Ensembl8102,632,060 - 102,801,911 (-)Ensembl
Rspo2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476323,067,682 - 23,182,945 (-)NCBI

Position Markers
G63521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,078,516 - 109,078,833UniSTSGRCh37
Build 368109,147,692 - 109,148,009RGDNCBI36
Celera8105,265,726 - 105,266,042RGD
Cytogenetic Map8q23.1UniSTS
HuRef8104,400,622 - 104,400,938UniSTS
WI-13991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378108,911,554 - 108,911,704UniSTSGRCh37
Build 368108,980,730 - 108,980,880RGDNCBI36
Celera8105,098,144 - 105,098,294RGD
Cytogenetic Map8q23.1UniSTS
HuRef8104,233,219 - 104,233,369UniSTS
GeneMap99-GB4 RH Map8445.99UniSTS
Whitehead-RH Map8589.1UniSTS
SHGC-34805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,085,301 - 109,085,450UniSTSGRCh37
Build 368109,154,477 - 109,154,626RGDNCBI36
Celera8105,272,506 - 105,272,655RGD
Cytogenetic Map8q23.1UniSTS
HuRef8104,407,405 - 104,407,554UniSTS
GeneMap99-GB4 RH Map8445.68UniSTS
Whitehead-RH Map8589.0UniSTS
G32159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,091,966 - 109,092,121UniSTSGRCh37
Build 368109,161,142 - 109,161,297RGDNCBI36
Celera8105,279,171 - 105,279,326RGD
Cytogenetic Map8q23.1UniSTS
HuRef8104,414,068 - 104,414,224UniSTS
RH45057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,094,906 - 109,095,512UniSTSGRCh37
Celera8105,282,111 - 105,282,717UniSTS
Cytogenetic Map8q23.1UniSTS
HuRef8104,417,010 - 104,417,616UniSTS
GeneMap99-GB4 RH Map8445.79UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4378
Count of miRNA genes:915
Interacting mature miRNAs:1077
Transcripts:ENST00000276659, ENST00000378439, ENST00000517781, ENST00000517939, ENST00000520026, ENST00000521502, ENST00000521757, ENST00000521956, ENST00000522333
Prediction methods:Microtar, 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
High
Medium 511 12 24 2 25 2 11 187 402 1 52 107 11 1
Low 1601 747 263 22 176 24 794 651 2175 33 734 551 2 1 95 587 2
Below cutoff 194 1775 1017 407 683 324 2733 971 1104 93 436 533 83 873 1769

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_065170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX937227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI496604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI496605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA400238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276659   ⟹   ENSP00000276659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,899,316 - 108,083,620 (-)Ensembl
RefSeq Acc Id: ENST00000517781   ⟹   ENSP00000427937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,899,316 - 108,083,203 (-)Ensembl
RefSeq Acc Id: ENST00000517939   ⟹   ENSP00000428940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,899,316 - 108,081,956 (-)Ensembl
RefSeq Acc Id: ENST00000520026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,960,748 - 107,997,254 (-)Ensembl
RefSeq Acc Id: ENST00000521502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,901,102 - 108,073,089 (-)Ensembl
RefSeq Acc Id: ENST00000521757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,958,228 - 107,989,555 (-)Ensembl
RefSeq Acc Id: ENST00000521956   ⟹   ENSP00000430010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,960,737 - 108,082,836 (-)Ensembl
RefSeq Acc Id: ENST00000522333   ⟹   ENSP00000430973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,989,109 - 108,083,642 (-)Ensembl
RefSeq Acc Id: ENST00000666252   ⟹   ENSP00000499279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8107,899,353 - 108,082,886 (-)Ensembl
RefSeq Acc Id: NM_001282863   ⟹   NP_001269792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,899,316 - 108,083,620 (-)NCBI
HuRef8104,233,209 - 104,418,017 (-)NCBI
CHM1_18108,951,793 - 109,135,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317942   ⟹   NP_001304871
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,899,316 - 108,081,956 (-)NCBI
CHM1_18108,951,793 - 109,134,415 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178565   ⟹   NP_848660
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,899,316 - 108,083,620 (-)NCBI
GRCh378108,911,544 - 109,095,913 (-)RGD
GRCh378108,911,544 - 109,095,913 (-)NCBI
Build 368108,980,721 - 109,164,742 (-)NCBI Archive
Celera8105,098,134 - 105,283,118 (-)RGD
HuRef8104,233,209 - 104,418,017 (-)RGD
CHM1_18108,951,793 - 109,136,161 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517018   ⟹   XP_011515320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,899,316 - 108,083,680 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517019   ⟹   XP_011515321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,899,316 - 108,083,680 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013395   ⟹   XP_016868884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,899,316 - 108,083,680 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_848660   ⟸   NM_178565
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6UXX9 (UniProtKB/Swiss-Prot),   B3KVP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269792   ⟸   NM_001282863
- Peptide Label: isoform 2 precursor
- UniProtKB: Q6UXX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515321   ⟸   XM_011517019
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515320   ⟸   XM_011517018
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001304871   ⟸   NM_001317942
- Peptide Label: isoform 3
- UniProtKB: Q6UXX9 (UniProtKB/Swiss-Prot),   B3KVP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868884   ⟸   XM_017013395
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000427937   ⟸   ENST00000517781
RefSeq Acc Id: ENSP00000428940   ⟸   ENST00000517939
RefSeq Acc Id: ENSP00000499279   ⟸   ENST00000666252
RefSeq Acc Id: ENSP00000430010   ⟸   ENST00000521956
RefSeq Acc Id: ENSP00000430973   ⟸   ENST00000522333
RefSeq Acc Id: ENSP00000276659   ⟸   ENST00000276659
Protein Domains
TSP type-1

Promoters
RGD ID:7213983
Promoter ID:EPDNEW_H12737
Type:initiation region
Name:RSPO2_1
Description:R-spondin 2
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
GRCh388108,083,617 - 108,083,677EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_178565.4(RSPO2):c.380A>T (p.Glu127Val) single nucleotide variant Malignant melanoma [RCV000061723] Chr8:107960721 [GRCh38]
Chr8:108972949 [GRCh37]
Chr8:109042125 [NCBI36]
Chr8:8q23.1
not provided
NM_001282863.1(RSPO2):c.425-15989C>A single nucleotide variant Lung cancer [RCV000106781] Chr8:107917179 [GRCh38]
Chr8:108929407 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_001282863.1(RSPO2):c.94+30008T>A single nucleotide variant Lung cancer [RCV000106783] Chr8:108052537 [GRCh38]
Chr8:109064765 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_001282863.1(RSPO2):c.94+3690G>T single nucleotide variant Lung cancer [RCV000106784] Chr8:108078855 [GRCh38]
Chr8:109091083 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_178565.5(RSPO2):c.125del (p.Gly42fs) deletion Tetraamelia syndrome 2 [RCV000656658] Chr8:107989214 [GRCh38]
Chr8:109001442 [GRCh37]
Chr8:8q23.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_178565.5(RSPO2):c.409G>T (p.Glu137Ter) single nucleotide variant Tetraamelia syndrome 2 [RCV000656659] Chr8:107960692 [GRCh38]
Chr8:108972920 [GRCh37]
Chr8:8q23.1
pathogenic|likely pathogenic
NM_178565.5(RSPO2):c.205C>T (p.Arg69Cys) single nucleotide variant Humerofemoral hypoplasia with radiotibial ray deficiency [RCV000656660] Chr8:107989134 [GRCh38]
Chr8:109001362 [GRCh37]
Chr8:8q23.1
pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:108646365-108942281)x3 copy number gain not provided [RCV000849759] Chr8:108646365..108942281 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q23.1(chr8:109005377-109197390)x1 copy number loss not provided [RCV000846927] Chr8:109005377..109197390 [GRCh37]
Chr8:8q23.1
pathogenic
GRCh37/hg19 8q23.1(chr8:109027316-109787856)x3 copy number gain not provided [RCV000849255] Chr8:109027316..109787856 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
NM_178565.5(RSPO2):c.588C>T (p.Cys196=) single nucleotide variant not provided [RCV000889472] Chr8:107958108 [GRCh38]
Chr8:108970336 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
NM_178565.5(RSPO2):c.455_457dup (p.Trp153Ter) duplication Tetraamelia syndrome 2 [RCV001293005] Chr8:107958238..107958239 [GRCh38]
Chr8:108970466..108970467 [GRCh37]
Chr8:8q23.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28583 AgrOrtholog
COSMIC RSPO2 COSMIC
Ensembl Genes ENSG00000147655 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276659 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428940 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430010 UniProtKB/TrEMBL
  ENSP00000430973 UniProtKB/TrEMBL
  ENSP00000499279 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276659 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517781 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517939 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521956 UniProtKB/TrEMBL
  ENST00000522333 UniProtKB/TrEMBL
  ENST00000666252 UniProtKB/TrEMBL
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147655 GTEx
HGNC ID HGNC:28583 ENTREZGENE
Human Proteome Map RSPO2 Human Proteome Map
InterPro Furin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RSPO2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rspo_Fu-CRD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:340419 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 340419 ENTREZGENE
OMIM 610575 OMIM
  618021 OMIM
  618022 OMIM
PANTHER PTHR46987:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Furin-like_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670968 PharmGKB
PROSITE TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9I4_HUMAN UniProtKB/TrEMBL
  A0A590UJ52_HUMAN UniProtKB/TrEMBL
  B3KVP3 ENTREZGENE, UniProtKB/TrEMBL
  E5RGU9_HUMAN UniProtKB/TrEMBL
  E5RH25_HUMAN UniProtKB/TrEMBL
  Q6UXX9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KVP0 UniProtKB/Swiss-Prot
  Q4G0U4 UniProtKB/Swiss-Prot
  Q8N6X6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 RSPO2  R-spondin 2  RSPO2  R-spondin 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 RSPO2  R-spondin 2  RSPO2  R-spondin 2 homolog (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED