CPLX2 (complexin 2) - Rat Genome Database

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Gene: CPLX2 (complexin 2) Homo sapiens
Analyze
Symbol: CPLX2
Name: complexin 2
RGD ID: 732283
HGNC Page HGNC:2310
Description: Predicted to enable SNARE binding activity. Predicted to be involved in positive regulation of synaptic plasticity; regulation of synaptic vesicle fusion to presynaptic active zone membrane; and synaptic vesicle exocytosis. Predicted to be located in several cellular components, including cytosol; dendrite; and perikaryon. Predicted to be part of SNARE complex. Predicted to be active in axon terminus; glutamatergic synapse; and postsynapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385175,796,533 - 175,884,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5175,796,310 - 175,884,021 (+)EnsemblGRCh38hg38GRCh38
GRCh375175,223,536 - 175,311,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365175,156,216 - 175,243,629 (+)NCBINCBI36Build 36hg18NCBI36
Build 345175,156,215 - 175,243,629NCBI
Celera5171,262,673 - 171,350,105 (+)NCBICelera
Cytogenetic Map5q35.2NCBI
HuRef5170,322,487 - 170,409,702 (+)NCBIHuRef
CHM1_15174,656,299 - 174,743,770 (+)NCBICHM1_1
T2T-CHM13v2.05176,340,215 - 176,427,717 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
alachlor  (ISO)
amiodarone  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[ghi]perylene  (ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcidiol  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chrysene  (ISO)
clozapine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (ISO)
Cuprizon  (ISO)
diazinon  (EXP)
dicrotophos  (EXP)
endosulfan  (ISO)
ethanol  (EXP)
fisetin  (ISO)
folic acid  (ISO)
gamma-tocopherol  (ISO)
gentamycin  (ISO)
graphene oxide  (ISO)
indole-3-methanol  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methylazoxymethanol  (ISO)
methylmercury chloride  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP)
phencyclidine  (ISO)
propanal  (EXP)
resveratrol  (EXP)
sarin  (ISO)
silicon dioxide  (EXP)
sulfadimethoxine  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
tocopherol  (ISO)
trimellitic anhydride  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Complexins: cytosolic proteins that regulate SNAP receptor function. McMahon HT, etal., Cell 1995 Oct 6;83(1):111-9.
2. Complexins regulate a late step in Ca2+-dependent neurotransmitter release. Reim K, etal., Cell 2001 Jan 12;104(1):71-81.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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   PMID:33961781   PMID:35575683   PMID:35944360   PMID:36107387   PMID:38427133  


Genomics

Comparative Map Data
CPLX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385175,796,533 - 175,884,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5175,796,310 - 175,884,021 (+)EnsemblGRCh38hg38GRCh38
GRCh375175,223,536 - 175,311,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365175,156,216 - 175,243,629 (+)NCBINCBI36Build 36hg18NCBI36
Build 345175,156,215 - 175,243,629NCBI
Celera5171,262,673 - 171,350,105 (+)NCBICelera
Cytogenetic Map5q35.2NCBI
HuRef5170,322,487 - 170,409,702 (+)NCBIHuRef
CHM1_15174,656,299 - 174,743,770 (+)NCBICHM1_1
T2T-CHM13v2.05176,340,215 - 176,427,717 (+)NCBIT2T-CHM13v2.0
Cplx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391354,455,447 - 54,531,736 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1354,519,162 - 54,531,730 (+)EnsemblGRCm39 Ensembl
GRCm381354,301,964 - 54,383,923 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1354,371,349 - 54,383,917 (+)EnsemblGRCm38mm10GRCm38
MGSCv371354,472,713 - 54,485,278 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361354,380,974 - 54,393,539 (+)NCBIMGSCv36mm8
Celera1355,439,482 - 55,451,914 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1328.59NCBI
Cplx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81710,224,673 - 10,297,974 (-)NCBIGRCr8
mRatBN7.21710,219,577 - 10,292,835 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1710,222,347 - 10,293,855 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1710,237,601 - 10,245,934 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01711,770,838 - 11,779,143 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01710,234,026 - 10,242,359 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01710,756,871 - 10,828,811 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1710,756,285 - 10,818,835 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01712,880,802 - 12,952,180 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41716,314,592 - 16,322,938 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v24170,925,024 - 171,014,363 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15169,064,487 - 169,153,901 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05171,144,671 - 171,233,028 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15178,041,212 - 178,128,595 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5178,115,947 - 178,128,595 (+)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0437,569,467 - 37,653,831 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1437,394,694 - 37,478,954 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0437,582,684 - 37,667,026 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0438,092,304 - 38,176,702 (-)NCBIUU_Cfam_GSD_1.0
Cplx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213121,252,379 - 121,335,618 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936597348,203 - 357,997 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936597276,540 - 356,822 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPLX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl281,732,533 - 81,813,271 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1281,732,527 - 81,813,189 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CPLX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12377,943,553 - 78,031,083 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2378,025,798 - 78,027,094 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666034557,841 - 646,727 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cplx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473314,089,018 - 14,097,508 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473314,085,085 - 14,170,711 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPLX2
5 total Variants

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 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3
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
NC_000005.9:g.(?_175158654)_(179263593_?)dup duplication Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]|Sotos syndrome [RCV003232857]|not provided [RCV003154288] Chr5:175158654..179263593 [GRCh37]
Chr5:5q35.2-35.3
uncertain significance|no classifications from unflagged records
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_001008220.2(CPLX2):c.376G>A (p.Gly126Arg) single nucleotide variant not specified [RCV004340251] Chr5:175880016 [GRCh38]
Chr5:175307019 [GRCh37]
Chr5:5q35.2
uncertain significance
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1 copy number loss not provided [RCV003485492] Chr5:171836503..176517734 [GRCh37]
Chr5:5q35.1-35.2
pathogenic
NM_001008220.2(CPLX2):c.350T>C (p.Leu117Pro) single nucleotide variant not specified [RCV004374494] Chr5:175879990 [GRCh38]
Chr5:175306993 [GRCh37]
Chr5:5q35.2
uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
597036450GWAS1132524_Hgut microbiome measurement QTL GWAS1132524 (human)0.000002gut microbiome measurement5175817031175817032Human
597185534GWAS1281608_Hvascular endothelial function measurement QTL GWAS1281608 (human)0.0000005vascular endothelial function measurement5175797760175797761Human
597277407GWAS1373481_Hinsomnia QTL GWAS1373481 (human)8e-09insomnia5175853108175853109Human
407153661GWAS802637_Hgut microbiome measurement QTL GWAS802637 (human)0.000002gut microbiome measurement5175817031175817032Human
407042350GWAS691326_HAge-related nuclear cataract QTL GWAS691326 (human)0.000001Age-related nuclear cataract5175817434175817435Human
406897901GWAS546877_Hattention deficit hyperactivity disorder QTL GWAS546877 (human)0.000001attention deficit hyperactivity disorder5175817031175817032Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1070 2362 2496 1939 4721 1505 1979 3 462 1262 312 1988 5767 5312 15 3638 576 1585 1401 157 1

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
  XM_047416650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351479 (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
  CP068273 (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

Ensembl Acc Id: ENST00000359546   ⟹   ENSP00000352544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,796,310 - 175,884,020 (+)Ensembl
Ensembl Acc Id: ENST00000393745   ⟹   ENSP00000377346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,871,578 - 175,884,021 (+)Ensembl
Ensembl Acc Id: ENST00000502265   ⟹   ENSP00000424305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,872,810 - 175,879,873 (+)Ensembl
Ensembl Acc Id: ENST00000506642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,796,628 - 175,837,848 (+)Ensembl
Ensembl Acc Id: ENST00000509837   ⟹   ENSP00000421106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,861,628 - 175,879,973 (+)Ensembl
Ensembl Acc Id: ENST00000512824   ⟹   ENSP00000425973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,871,578 - 175,879,826 (+)Ensembl
Ensembl Acc Id: ENST00000514150   ⟹   ENSP00000423612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,871,676 - 175,879,998 (+)Ensembl
Ensembl Acc Id: ENST00000515025   ⟹   ENSP00000425284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,878,206 - 175,878,989 (+)Ensembl
Ensembl Acc Id: ENST00000515094   ⟹   ENSP00000421825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5175,878,206 - 175,880,053 (+)Ensembl
Ensembl Acc Id: ENST00000515502   ⟹   ENSP00000423564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.05176,415,276 - 176,427,717 (+)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
T2T-CHM13v2.05176,340,215 - 176,427,717 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265798   ⟹   XP_005265855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,861,677 - 175,884,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265799   ⟹   XP_005265856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,796,533 - 175,884,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534419   ⟹   XP_011532721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,871,578 - 175,884,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008964   ⟹   XP_016864453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,872,767 - 175,884,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416650   ⟹   XP_047272606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,796,533 - 175,884,021 (+)NCBI
RefSeq Acc Id: XM_047416651   ⟹   XP_047272607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385175,861,677 - 175,884,021 (+)NCBI
RefSeq Acc Id: XM_054351474   ⟹   XP_054207449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05176,340,215 - 176,427,717 (+)NCBI
RefSeq Acc Id: XM_054351475   ⟹   XP_054207450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05176,415,254 - 176,427,717 (+)NCBI
RefSeq Acc Id: XM_054351476   ⟹   XP_054207451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05176,404,726 - 176,427,717 (+)NCBI
RefSeq Acc Id: XM_054351477   ⟹   XP_054207452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05176,416,439 - 176,427,717 (+)NCBI
RefSeq Acc Id: XM_054351478   ⟹   XP_054207453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05176,340,215 - 176,427,717 (+)NCBI
RefSeq Acc Id: XM_054351479   ⟹   XP_054207454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05176,405,353 - 176,427,717 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001008221 (Get FASTA)   NCBI Sequence Viewer  
  NP_006641 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265855 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265856 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532721 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864453 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272606 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272607 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207449 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207450 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207451 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207452 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207454 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50229 (Get FASTA)   NCBI Sequence Viewer  
  AAH93706 (Get FASTA)   NCBI Sequence Viewer  
  AAI12288 (Get FASTA)   NCBI Sequence Viewer  
  AAS93622 (Get FASTA)   NCBI Sequence Viewer  
  BAG36859 (Get FASTA)   NCBI Sequence Viewer  
  BAG57224 (Get FASTA)   NCBI Sequence Viewer  
  CAG26663 (Get FASTA)   NCBI Sequence Viewer  
  CAG26664 (Get FASTA)   NCBI Sequence Viewer  
  EAW61366 (Get FASTA)   NCBI Sequence Viewer  
  EAW61367 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000352544
  ENSP00000352544.4
  ENSP00000377346
  ENSP00000377346.3
  ENSP00000421106
  ENSP00000421106.1
  ENSP00000421825.1
  ENSP00000423612
  ENSP00000423612.1
  ENSP00000424305.1
  ENSP00000425284.1
  ENSP00000425973.1
GenBank Protein Q6PUV4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006641   ⟸   NM_006650
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001008221   ⟸   NM_001008220
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265856   ⟸   XM_005265799
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265855   ⟸   XM_005265798
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532721   ⟸   XM_011534419
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864453   ⟸   XM_017008964
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000424305   ⟸   ENST00000502265
Ensembl Acc Id: ENSP00000352544   ⟸   ENST00000359546
Ensembl Acc Id: ENSP00000421106   ⟸   ENST00000509837
Ensembl Acc Id: ENSP00000377346   ⟸   ENST00000393745
Ensembl Acc Id: ENSP00000425973   ⟸   ENST00000512824
Ensembl Acc Id: ENSP00000423612   ⟸   ENST00000514150
Ensembl Acc Id: ENSP00000421825   ⟸   ENST00000515094
Ensembl Acc Id: ENSP00000425284   ⟸   ENST00000515025
Ensembl Acc Id: ENSP00000423564   ⟸   ENST00000515502
RefSeq Acc Id: XP_047272606   ⟸   XM_047416650
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272607   ⟸   XM_047416651
- Peptide Label: isoform X1
- UniProtKB: Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   Q64386 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207449   ⟸   XM_054351474
- Peptide Label: isoform X1
- UniProtKB: Q64386 (UniProtKB/Swiss-Prot),   Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207453   ⟸   XM_054351478
- Peptide Label: isoform X1
- UniProtKB: Q64386 (UniProtKB/Swiss-Prot),   Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207451   ⟸   XM_054351476
- Peptide Label: isoform X1
- UniProtKB: Q64386 (UniProtKB/Swiss-Prot),   Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207454   ⟸   XM_054351479
- Peptide Label: isoform X1
- UniProtKB: Q64386 (UniProtKB/Swiss-Prot),   Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207450   ⟸   XM_054351475
- Peptide Label: isoform X1
- UniProtKB: Q64386 (UniProtKB/Swiss-Prot),   Q6PUV4 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207452   ⟸   XM_054351477
- Peptide Label: isoform X1
- UniProtKB: Q64386 (UniProtKB/Swiss-Prot),   Q52M15 (UniProtKB/Swiss-Prot),   Q6PUV4 (UniProtKB/Swiss-Prot),   Q28184 (UniProtKB/Swiss-Prot),   Q13329 (UniProtKB/Swiss-Prot),   O09056 (UniProtKB/Swiss-Prot),   B2RAG2 (UniProtKB/Swiss-Prot),   D6R960 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PUV4-F1-model_v2 AlphaFold Q6PUV4 1-134 view protein structure

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

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 Transcript ENST00000359546 ENTREZGENE
  ENST00000359546.8 UniProtKB/Swiss-Prot
  ENST00000393745 ENTREZGENE
  ENST00000393745.8 UniProtKB/Swiss-Prot
  ENST00000502265.5 UniProtKB/TrEMBL
  ENST00000509837 ENTREZGENE
  ENST00000509837.5 UniProtKB/TrEMBL
  ENST00000512824.5 UniProtKB/TrEMBL
  ENST00000514150 ENTREZGENE
  ENST00000514150.5 UniProtKB/TrEMBL
  ENST00000515025.5 UniProtKB/TrEMBL
  ENST00000515094.1 UniProtKB/Swiss-Prot
Gene3D-CATH Single Helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 COMPLEXIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16705 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Synaphin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26827 PharmGKB
Superfamily-SCOP SNARE fusion complex UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RAG2 ENTREZGENE
  CPLX2_HUMAN UniProtKB/Swiss-Prot
  D6R960 ENTREZGENE, UniProtKB/TrEMBL
  D6RBA5_HUMAN UniProtKB/TrEMBL
  D6RDN3_HUMAN UniProtKB/TrEMBL
  D6RGY3_HUMAN UniProtKB/TrEMBL
  D6RI05_HUMAN UniProtKB/TrEMBL
  O09056 ENTREZGENE
  Q13329 ENTREZGENE
  Q28184 ENTREZGENE
  Q52M15 ENTREZGENE
  Q64386 ENTREZGENE
  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