CPLX2 (complexin 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CPLX2 (complexin 2) Homo sapiens
Analyze
Symbol: CPLX2
Name: complexin 2
RGD ID: 732283
HGNC Page HGNC
Description: Predicted to have syntaxin-1 binding activity. Predicted to be involved in positive regulation of synaptic plasticity; regulation of neurotransmitter secretion; and synaptic vesicle exocytosis. Predicted to localize to SNARE complex; neuronal cell body; and terminal bouton.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 921-L; complexin II; complexin-2; CPX II; CPX-2; CPX2; Hfb1; MGC138492; synaphin 1; synaphin-1
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 Ensembl5175,796,310 - 175,884,021 (+)EnsemblGRCh38hg38GRCh38
GRCh385175,796,533 - 175,884,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375175,223,536 - 175,311,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365175,156,216 - 175,243,629 (+)NCBINCBI36hg18NCBI36
Build 345175,156,215 - 175,243,629NCBI
Celera5171,262,673 - 171,350,105 (+)NCBI
Cytogenetic Map5q35.2NCBI
HuRef5170,322,487 - 170,409,702 (+)NCBIHuRef
CHM1_15174,656,299 - 174,743,770 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:605033   PMID:8824312   PMID:9853440   PMID:10051208   PMID:10430466   PMID:10449403   PMID:10777504   PMID:11483314   PMID:11576753   PMID:11751907   PMID:12058476   PMID:12082566  
PMID:12200427   PMID:12477932   PMID:12807877   PMID:14702039   PMID:15217342   PMID:15489334   PMID:15653259   PMID:15906159   PMID:16131404   PMID:16162394   PMID:16442780   PMID:18240322  
PMID:19851296   PMID:20198315   PMID:20379614   PMID:20819981   PMID:21832049   PMID:21873635   PMID:23251661   PMID:23527680   PMID:24951543   PMID:25297695   PMID:25564026   PMID:25692331  
PMID:27866231   PMID:28514442   PMID:29791485   PMID:32296183  


Genomics

Comparative Map Data
CPLX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5175,796,310 - 175,884,021 (+)EnsemblGRCh38hg38GRCh38
GRCh385175,796,533 - 175,884,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375175,223,536 - 175,311,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365175,156,216 - 175,243,629 (+)NCBINCBI36hg18NCBI36
Build 345175,156,215 - 175,243,629NCBI
Celera5171,262,673 - 171,350,105 (+)NCBI
Cytogenetic Map5q35.2NCBI
HuRef5170,322,487 - 170,409,702 (+)NCBIHuRef
CHM1_15174,656,299 - 174,743,770 (+)NCBICHM1_1
Cplx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391354,455,447 - 54,531,736 (+)NCBIGRCm39mm39
GRCm39 Ensembl1354,519,162 - 54,531,730 (+)Ensembl
GRCm381354,301,964 - 54,383,923 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1354,371,349 - 54,383,917 (+)EnsemblGRCm38mm10GRCm38
MGSCv371354,472,713 - 54,485,278 (+)NCBIGRCm37mm9NCBIm37
MGSCv361354,380,974 - 54,393,539 (+)NCBImm8
Celera1355,439,482 - 55,451,914 (+)NCBICelera
Cytogenetic Map13B1NCBI
Cplx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21710,219,577 - 10,292,835 (-)NCBI
Rnor_6.0 Ensembl1710,756,285 - 10,818,835 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01710,756,871 - 10,828,811 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01712,880,802 - 12,952,180 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41716,314,592 - 16,322,938 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11716,314,591 - 16,322,938 (-)NCBI
Celera1710,295,626 - 10,303,931 (-)NCBICelera
Cytogenetic Map17p14NCBI
Cplx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540828,308,517 - 28,388,742 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540828,308,807 - 28,388,650 (+)NCBIChiLan1.0ChiLan1.0
CPLX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15178,041,212 - 178,128,595 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5178,115,947 - 178,128,595 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05171,144,671 - 171,233,028 (+)NCBIMhudiblu_PPA_v0panPan3
CPLX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1437,203,003 - 37,275,938 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl437,206,082 - 37,275,954 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha437,150,959 - 37,235,213 (-)NCBI
ROS_Cfam_1.0437,569,467 - 37,653,831 (-)NCBI
UMICH_Zoey_3.1437,394,694 - 37,478,954 (-)NCBI
UNSW_CanFamBas_1.0437,582,684 - 37,667,026 (-)NCBI
UU_Cfam_GSD_1.0438,092,304 - 38,176,702 (-)NCBI
Cplx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213121,252,379 - 121,335,618 (+)NCBI
SpeTri2.0NW_004936597276,540 - 356,822 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPLX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl281,732,528 - 81,813,271 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1281,732,527 - 81,813,189 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CPLX2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12377,943,553 - 78,031,083 (+)NCBI
ChlSab1.1 Ensembl2378,025,798 - 78,027,094 (+)Ensembl
Cplx2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473314,085,085 - 14,170,711 (-)NCBI

Position Markers
SHGC-78708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,258,894 - 175,259,085UniSTSGRCh37
Build 365175,191,500 - 175,191,691RGDNCBI36
Celera5171,297,970 - 171,298,161RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,357,782 - 170,357,973UniSTS
TNG Radiation Hybrid Map566043.0UniSTS
D5S446E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,309,692 - 175,309,784UniSTSGRCh37
Build 365175,242,298 - 175,242,390RGDNCBI36
Celera5171,348,774 - 171,348,866RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,408,371 - 170,408,463UniSTS
D5S2279E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,269,010 - 175,269,125UniSTSGRCh37
Build 365175,201,616 - 175,201,731RGDNCBI36
Celera5171,308,090 - 171,308,205RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,367,892 - 170,368,007UniSTS
SHGC-173139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,267,657 - 175,267,996UniSTSGRCh37
Build 365175,200,263 - 175,200,602RGDNCBI36
Celera5171,306,735 - 171,307,074RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,366,537 - 170,366,876UniSTS
TNG Radiation Hybrid Map566046.0UniSTS
CPLX2_9184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,306,849 - 175,307,413UniSTSGRCh37
Build 365175,239,455 - 175,240,019RGDNCBI36
Celera5171,345,931 - 171,346,495RGD
HuRef5170,405,528 - 170,406,092UniSTS
D5S1615E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,309,639 - 175,309,774UniSTSGRCh37
Build 365175,242,245 - 175,242,380RGDNCBI36
Celera5171,348,721 - 171,348,856RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,408,318 - 170,408,453UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
RH18041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,307,000 - 175,307,231UniSTSGRCh37
Build 365175,239,606 - 175,239,837RGDNCBI36
Celera5171,346,082 - 171,346,313RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,405,679 - 170,405,910UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
SGC30041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,310,864 - 175,311,013UniSTSGRCh37
Build 365175,243,470 - 175,243,619RGDNCBI36
Celera5171,349,946 - 171,350,095RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,409,543 - 170,409,692UniSTS
GeneMap99-GB4 RH Map5642.9UniSTS
Whitehead-RH Map5538.3UniSTS
SGC31663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,307,056 - 175,307,232UniSTSGRCh37
Build 365175,239,662 - 175,239,838RGDNCBI36
Celera5171,346,138 - 171,346,314RGD
Cytogenetic Map5q35.2UniSTS
HuRef5170,405,735 - 170,405,911UniSTS
GeneMap99-GB4 RH Map5642.77UniSTS
Whitehead-RH Map5538.2UniSTS
UniSTS:484355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,305,708 - 175,307,075UniSTSGRCh37
Celera5171,344,790 - 171,346,157UniSTS
HuRef5170,404,387 - 170,405,754UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5014
Count of miRNA genes:1196
Interacting mature miRNAs:1545
Transcripts:ENST00000359546, ENST00000393745, ENST00000502265, ENST00000506642, ENST00000509837, ENST00000512824, ENST00000514150, ENST00000515025, ENST00000515094, ENST00000515502
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 1 23 1
Medium 34 332 25 25 2 11 2823 7 33 93 2
Low 1878 101 204 51 193 46 265 663 237 19 528 175 7 40 120 1
Below cutoff 450 2561 969 386 1069 240 3568 1340 555 138 740 1132 150 1 1030 2374 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001008220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL707430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY576870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI197868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN000499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN000500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359546   ⟹   ENSP00000352544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,796,310 - 175,884,020 (+)Ensembl
RefSeq Acc Id: ENST00000393745   ⟹   ENSP00000377346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,871,578 - 175,884,021 (+)Ensembl
RefSeq Acc Id: ENST00000502265   ⟹   ENSP00000424305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,872,810 - 175,879,873 (+)Ensembl
RefSeq Acc Id: ENST00000506642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,796,628 - 175,837,848 (+)Ensembl
RefSeq Acc Id: ENST00000509837   ⟹   ENSP00000421106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,861,628 - 175,879,973 (+)Ensembl
RefSeq Acc Id: ENST00000512824   ⟹   ENSP00000425973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,871,578 - 175,879,826 (+)Ensembl
RefSeq Acc Id: ENST00000514150   ⟹   ENSP00000423612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,871,676 - 175,879,998 (+)Ensembl
RefSeq Acc Id: ENST00000515025   ⟹   ENSP00000425284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,878,206 - 175,878,989 (+)Ensembl
RefSeq Acc Id: ENST00000515094   ⟹   ENSP00000421825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,878,206 - 175,880,053 (+)Ensembl
RefSeq Acc Id: ENST00000515502   ⟹   ENSP00000423564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5175,796,742 - 175,878,759 (+)Ensembl
RefSeq Acc Id: NM_001008220   ⟹   NP_001008221
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,871,578 - 175,884,021 (+)NCBI
GRCh375175,223,542 - 175,311,024 (+)NCBI
Build 365175,231,107 - 175,243,629 (+)NCBI Archive
HuRef5170,322,487 - 170,409,702 (+)ENTREZGENE
CHM1_15174,731,246 - 174,743,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006650   ⟹   NP_006641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,796,533 - 175,884,021 (+)NCBI
GRCh375175,223,542 - 175,311,024 (+)NCBI
Build 365175,156,216 - 175,243,629 (+)NCBI Archive
HuRef5170,322,487 - 170,409,702 (+)ENTREZGENE
CHM1_15174,656,299 - 174,743,770 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265798   ⟹   XP_005265855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,861,628 - 175,884,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265799   ⟹   XP_005265856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,796,539 - 175,884,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534419   ⟹   XP_011532721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,871,676 - 175,884,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008964   ⟹   XP_016864453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,872,755 - 175,884,021 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006641   ⟸   NM_006650
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001008221   ⟸   NM_001008220
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005265856   ⟸   XM_005265799
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005265855   ⟸   XM_005265798
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532721   ⟸   XM_011534419
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864453   ⟸   XM_017008964
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000424305   ⟸   ENST00000502265
RefSeq Acc Id: ENSP00000352544   ⟸   ENST00000359546
RefSeq Acc Id: ENSP00000421106   ⟸   ENST00000509837
RefSeq Acc Id: ENSP00000377346   ⟸   ENST00000393745
RefSeq Acc Id: ENSP00000425973   ⟸   ENST00000512824
RefSeq Acc Id: ENSP00000423612   ⟸   ENST00000514150
RefSeq Acc Id: ENSP00000421825   ⟸   ENST00000515094
RefSeq Acc Id: ENSP00000425284   ⟸   ENST00000515025
RefSeq Acc Id: ENSP00000423564   ⟸   ENST00000515502

Promoters
RGD ID:6803162
Promoter ID:HG_KWN:51839
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:ENST00000274615,   NM_001008220
Position:
Human AssemblyChrPosition (strand)Source
Build 365175,231,204 - 175,231,704 (+)MPROMDB
RGD ID:6871606
Promoter ID:EPDNEW_H8968
Type:initiation region
Name:CPLX2_3
Description:complexin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8969  EPDNEW_H8970  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,796,299 - 175,796,359EPDNEW
RGD ID:6871608
Promoter ID:EPDNEW_H8969
Type:initiation region
Name:CPLX2_2
Description:complexin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8968  EPDNEW_H8970  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,796,731 - 175,796,791EPDNEW
RGD ID:6871610
Promoter ID:EPDNEW_H8970
Type:initiation region
Name:CPLX2_1
Description:complexin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8968  EPDNEW_H8969  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,871,578 - 175,871,638EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
NM_001008220.1(CPLX2):c.305C>T (p.Pro102Leu) single nucleotide variant Malignant melanoma [RCV000066851] Chr5:175879945 [GRCh38]
Chr5:175306948 [GRCh37]
Chr5:175239554 [NCBI36]
Chr5:5q35.2
not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q35.2(chr5:175600686-175811463)x1 copy number loss See cases [RCV000134909] Chr5:175600686..175811463 [GRCh38]
Chr5:175027689..175238466 [GRCh37]
Chr5:174960295..175171072 [NCBI36]
Chr5:5q35.2
uncertain significance
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3 copy number gain See cases [RCV000142647] Chr5:173237772..176614618 [GRCh38]
Chr5:172664775..176041619 [GRCh37]
Chr5:172597381..175974225 [NCBI36]
Chr5:5q35.1-35.2
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2310 AgrOrtholog
COSMIC CPLX2 COSMIC
Ensembl Genes ENSG00000145920 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352544 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377346 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421106 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000421825 UniProtKB/Swiss-Prot
  ENSP00000423612 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000424305 UniProtKB/TrEMBL
  ENSP00000425284 UniProtKB/TrEMBL
  ENSP00000425973 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359546 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393745 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502265 UniProtKB/TrEMBL
  ENST00000509837 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000512824 UniProtKB/TrEMBL
  ENST00000514150 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000515025 UniProtKB/TrEMBL
  ENST00000515094 UniProtKB/Swiss-Prot
GTEx ENSG00000145920 GTEx
HGNC ID HGNC:2310 ENTREZGENE
Human Proteome Map CPLX2 Human Proteome Map
InterPro Synaphin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10814 UniProtKB/Swiss-Prot
NCBI Gene 10814 ENTREZGENE
OMIM 605033 OMIM
PANTHER PTHR16705 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Synaphin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26827 PharmGKB
UniProt CPLX2_HUMAN UniProtKB/Swiss-Prot
  D3DQN5_HUMAN UniProtKB/TrEMBL
  D6R960_HUMAN UniProtKB/TrEMBL
  D6RBA5_HUMAN UniProtKB/TrEMBL
  D6RDN3_HUMAN UniProtKB/TrEMBL
  D6RGY3_HUMAN UniProtKB/TrEMBL
  D6RI05_HUMAN UniProtKB/TrEMBL
  Q6PUV4 ENTREZGENE
UniProt Secondary B2RAG2 UniProtKB/Swiss-Prot
  O09056 UniProtKB/Swiss-Prot
  Q13329 UniProtKB/Swiss-Prot
  Q28184 UniProtKB/Swiss-Prot
  Q52M15 UniProtKB/Swiss-Prot
  Q64386 UniProtKB/Swiss-Prot