CAVIN2 (caveolae associated protein 2) - Rat Genome Database

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Gene: CAVIN2 (caveolae associated protein 2) Homo sapiens
Analyze
Symbol: CAVIN2
Name: caveolae associated protein 2
RGD ID: 1348108
HGNC Page HGNC:10690
Description: Enables phosphatidylserine binding activity. Involved in plasma membrane tubulation. Located in caveola; cytosol; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: caveolae-associated protein 2; cavin-2; phosphatidylserine binding protein; phosphatidylserine-binding protein; PS-p68; SDPR; SDR; serum deprivation response; serum deprivation-response protein
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
GRCh382191,834,310 - 191,847,088 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2191,834,310 - 191,847,088 (-)EnsemblGRCh38hg38GRCh38
GRCh372192,699,036 - 192,711,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362192,407,281 - 192,420,226 (-)NCBINCBI36Build 36hg18NCBI36
Build 342192,525,246 - 192,537,296NCBI
Celera2186,294,205 - 186,307,180 (-)NCBICelera
Cytogenetic Map2q32.3NCBI
HuRef2184,557,290 - 184,570,265 (-)NCBIHuRef
CHM1_12192,705,004 - 192,717,980 (-)NCBICHM1_1
T2T-CHM13v2.02192,322,523 - 192,335,302 (-)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
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
aflatoxin B1  (EXP)
AM-251  (EXP)
amphetamine  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
cadmium atom  (ISO)
caffeine  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
folpet  (ISO)
gentamycin  (ISO)
glycidyl methacrylate  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
menadione  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
toluene  (ISO)
triadimefon  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
caveola  (IBA,IDA,IEA)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,IEA)
membrane  (IEA)
membrane raft  (IDA)
nucleoplasm  (IDA)
plasma membrane  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2390065   PMID:8012384   PMID:8241023   PMID:8889548   PMID:9566962   PMID:10191091   PMID:12477932   PMID:12665801   PMID:15146197   PMID:15489334   PMID:15815621   PMID:16189514  
PMID:16344560   PMID:18029348   PMID:18332105   PMID:19262564   PMID:19525939   PMID:19722192   PMID:21873635   PMID:21913217   PMID:23402259   PMID:24013648   PMID:24473072   PMID:24567387  
PMID:25124890   PMID:25204797   PMID:25416956   PMID:26086332   PMID:26086560   PMID:26496610   PMID:26739564   PMID:27513662   PMID:27721187   PMID:28865960   PMID:29491746   PMID:29656893  
PMID:30021884   PMID:30907484   PMID:31152661   PMID:31182584   PMID:31322248   PMID:31334828   PMID:31340145   PMID:31352804   PMID:31391242   PMID:32296183   PMID:32694731   PMID:32780723  
PMID:33016107   PMID:33111431   PMID:33274565   PMID:33845483   PMID:33931585   PMID:34431227   PMID:34591612   PMID:34921745   PMID:35337019   PMID:35831314   PMID:35850772   PMID:35944360  
PMID:36215168   PMID:36217030   PMID:36443833  


Genomics

Comparative Map Data
CAVIN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382191,834,310 - 191,847,088 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2191,834,310 - 191,847,088 (-)EnsemblGRCh38hg38GRCh38
GRCh372192,699,036 - 192,711,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362192,407,281 - 192,420,226 (-)NCBINCBI36Build 36hg18NCBI36
Build 342192,525,246 - 192,537,296NCBI
Celera2186,294,205 - 186,307,180 (-)NCBICelera
Cytogenetic Map2q32.3NCBI
HuRef2184,557,290 - 184,570,265 (-)NCBIHuRef
CHM1_12192,705,004 - 192,717,980 (-)NCBICHM1_1
T2T-CHM13v2.02192,322,523 - 192,335,302 (-)NCBIT2T-CHM13v2.0
Cavin2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39151,328,285 - 51,342,119 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl151,328,285 - 51,342,119 (+)EnsemblGRCm39 Ensembl
GRCm38151,289,126 - 51,302,960 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl151,289,126 - 51,302,960 (+)EnsemblGRCm38mm10GRCm38
MGSCv37151,345,970 - 51,359,804 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36151,233,671 - 51,247,505 (+)NCBIMGSCv36mm8
Celera151,588,665 - 51,602,512 (+)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map126.13NCBI
Cavin2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8957,794,007 - 57,806,024 (-)NCBIGRCr8
mRatBN7.2950,302,079 - 50,314,096 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl950,301,206 - 50,314,147 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx958,844,832 - 58,856,873 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0963,967,673 - 63,979,714 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0962,263,643 - 62,275,680 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0955,244,136 - 55,256,153 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl955,243,255 - 55,256,340 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0954,940,738 - 54,952,755 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4947,373,044 - 47,385,061 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1947,374,457 - 47,386,475 (-)NCBI
Celera947,939,632 - 47,951,653 (-)NCBICelera
Cytogenetic Map9q22NCBI
Cavin2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554037,458,900 - 7,471,257 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554037,459,038 - 7,471,809 (+)NCBIChiLan1.0ChiLan1.0
CAVIN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21394,508,021 - 94,520,975 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B94,523,005 - 94,535,934 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B79,127,676 - 79,140,585 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B197,042,366 - 197,055,326 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B197,042,366 - 197,055,326 (-)Ensemblpanpan1.1panPan2
CAVIN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1372,300,301 - 2,307,957 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha373,248,356 - 3,262,084 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0372,188,764 - 2,202,518 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl372,188,758 - 2,202,518 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1372,198,415 - 2,212,031 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0372,165,704 - 2,180,655 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0372,178,440 - 2,192,258 (-)NCBIUU_Cfam_GSD_1.0
Cavin2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303150,371,498 - 150,384,175 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365066,453,652 - 6,466,770 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365066,453,914 - 6,466,574 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAVIN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1596,474,284 - 96,490,016 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11596,476,675 - 96,490,231 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215107,752,053 - 107,765,594 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CAVIN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11077,371,220 - 77,384,574 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040122,090,276 - 122,103,217 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cavin2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248544,354,024 - 4,364,992 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248544,354,099 - 4,364,992 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAVIN2
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
NM_004657.6(CAVIN2):c.542A>G (p.Glu181Gly) single nucleotide variant Inborn genetic diseases [RCV003266490] Chr2:191836659 [GRCh38]
Chr2:192701385 [GRCh37]
Chr2:2q32.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_004657.6(CAVIN2):c.519A>G (p.Lys173=) single nucleotide variant not provided [RCV000963810] Chr2:191836682 [GRCh38]
Chr2:192701408 [GRCh37]
Chr2:2q32.3
benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_004657.6(CAVIN2):c.1247C>T (p.Pro416Leu) single nucleotide variant Inborn genetic diseases [RCV003271204] Chr2:191835954 [GRCh38]
Chr2:192700680 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_004657.6(CAVIN2):c.198G>A (p.Val66=) single nucleotide variant not provided [RCV000973313] Chr2:191846728 [GRCh38]
Chr2:192711454 [GRCh37]
Chr2:2q32.3
benign
NM_004657.6(CAVIN2):c.1191T>C (p.Gly397=) single nucleotide variant not provided [RCV000889944] Chr2:191836010 [GRCh38]
Chr2:192700736 [GRCh37]
Chr2:2q32.3
likely benign
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1
pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1
likely pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q32.3(chr2:192323572-193027152)x1 copy number loss not provided [RCV001258569] Chr2:192323572..193027152 [GRCh37]
Chr2:2q32.3
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2q32.3(chr2:192323573-193027319)x1 copy number loss not provided [RCV001827676] Chr2:192323573..193027319 [GRCh37]
Chr2:2q32.3
uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34
pathogenic
NM_004657.6(CAVIN2):c.485A>T (p.Glu162Val) single nucleotide variant Inborn genetic diseases [RCV003193866] Chr2:191836716 [GRCh38]
Chr2:192701442 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_004657.6(CAVIN2):c.1127T>A (p.Ile376Asn) single nucleotide variant Inborn genetic diseases [RCV003309776] Chr2:191836074 [GRCh38]
Chr2:192700800 [GRCh37]
Chr2:2q32.3
uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1
pathogenic
NM_004657.6(CAVIN2):c.569A>G (p.Asn190Ser) single nucleotide variant Inborn genetic diseases [RCV003351617] Chr2:191836632 [GRCh38]
Chr2:192701358 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_004657.6(CAVIN2):c.171G>T (p.Thr57=) single nucleotide variant not provided [RCV003429472] Chr2:191846755 [GRCh38]
Chr2:192711481 [GRCh37]
Chr2:2q32.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:560
Count of miRNA genes:394
Interacting mature miRNAs:446
Transcripts:ENST00000304141
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
A004T07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372192,699,122 - 192,699,255UniSTSGRCh37
Build 362192,407,367 - 192,407,500RGDNCBI36
Celera2186,294,296 - 186,294,429RGD
Cytogenetic Map2q32-q33UniSTS
HuRef2184,557,381 - 184,557,514UniSTS
GeneMap99-GB4 RH Map2605.07UniSTS
Whitehead-RH Map2934.5UniSTS
NCBI RH Map21500.6UniSTS
WI-12497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372192,699,058 - 192,699,160UniSTSGRCh37
Build 362192,407,303 - 192,407,405RGDNCBI36
Celera2186,294,232 - 186,294,334RGD
Cytogenetic Map2q32-q33UniSTS
HuRef2184,557,317 - 184,557,419UniSTS
GeneMap99-GB4 RH Map2609.25UniSTS
Whitehead-RH Map2937.0UniSTS
RH66552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372192,699,368 - 192,699,511UniSTSGRCh37
Build 362192,407,613 - 192,407,756RGDNCBI36
Celera2186,294,542 - 186,294,685RGD
Cytogenetic Map2q32-q33UniSTS
HuRef2184,557,627 - 184,557,770UniSTS
GeneMap99-GB4 RH Map2607.5UniSTS
RH45862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372192,704,262 - 192,704,382UniSTSGRCh37
Build 362192,412,507 - 192,412,627RGDNCBI36
Celera2186,299,436 - 186,299,556RGD
Cytogenetic Map2q32-q33UniSTS
HuRef2184,562,521 - 184,562,641UniSTS
GeneMap99-GB4 RH Map2609.25UniSTS
SGC38126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372192,704,266 - 192,704,552UniSTSGRCh37
Build 362192,412,511 - 192,412,797RGDNCBI36
Celera2186,299,440 - 186,299,726RGD
Cytogenetic Map2q32-q33UniSTS
HuRef2184,562,525 - 184,562,811UniSTS
GeneMap99-GB4 RH Map2613.89UniSTS
Whitehead-RH Map2937.1UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2026 2102 1235 217 665 157 3020 1902 1860 318 899 1438 67 1204 2099 1
Low 329 868 476 405 745 306 1096 268 1808 88 522 80 107 1 689 2 2
Below cutoff 43 17 7 2 224 2 139 14 39 9 27 40 1 1

Sequence


RefSeq Acc Id: ENST00000304141   ⟹   ENSP00000305675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,834,310 - 191,847,088 (-)Ensembl
RefSeq Acc Id: NM_004657   ⟹   NP_004648
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,834,310 - 191,847,088 (-)NCBI
GRCh372192,699,031 - 192,712,006 (-)RGD
Build 362192,407,281 - 192,420,226 (-)NCBI Archive
Celera2186,294,205 - 186,307,180 (-)RGD
HuRef2184,557,290 - 184,570,265 (-)RGD
CHM1_12192,705,004 - 192,717,980 (-)NCBI
T2T-CHM13v2.02192,322,523 - 192,335,302 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004648 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD17795 (Get FASTA)   NCBI Sequence Viewer  
  AAH16475 (Get FASTA)   NCBI Sequence Viewer  
  AAY24078 (Get FASTA)   NCBI Sequence Viewer  
  BAF83067 (Get FASTA)   NCBI Sequence Viewer  
  EAX10833 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000305675
  ENSP00000305675.4
GenBank Protein O95810 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004648   ⟸   NM_004657
- UniProtKB: O95810 (UniProtKB/Swiss-Prot),   A8K2W3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000305675   ⟸   ENST00000304141

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95810-F1-model_v2 AlphaFold O95810 1-425 view protein structure

Promoters
RGD ID:6862372
Promoter ID:EPDNEW_H4351
Type:initiation region
Name:SDPR_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4352  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,847,084 - 191,847,144EPDNEW
RGD ID:6862374
Promoter ID:EPDNEW_H4352
Type:initiation region
Name:SDPR_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4351  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,847,223 - 191,847,283EPDNEW
RGD ID:6798129
Promoter ID:HG_KWN:36438
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000334791
Position:
Human AssemblyChrPosition (strand)Source
Build 362192,419,201 - 192,419,701 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10690 AgrOrtholog
COSMIC CAVIN2 COSMIC
Ensembl Genes ENSG00000168497 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304141 ENTREZGENE
  ENST00000304141.5 UniProtKB/Swiss-Prot
GTEx ENSG00000168497 GTEx
HGNC ID HGNC:10690 ENTREZGENE
Human Proteome Map CAVIN2 Human Proteome Map
InterPro Cavin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8436 UniProtKB/Swiss-Prot
NCBI Gene 8436 ENTREZGENE
OMIM 606728 OMIM
PANTHER CAVEOLAE-ASSOCIATED PROTEIN 2 UniProtKB/TrEMBL
  CAVIN UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  PTHR15240:SF1 UniProtKB/Swiss-Prot
Pfam PTRF_SDPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35615 PharmGKB
UniProt A8K2W3 ENTREZGENE, UniProtKB/TrEMBL
  CAVN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-28 CAVIN2  caveolae associated protein 2  SDPR  serum deprivation response  Symbol and/or name change 5135510 APPROVED
2011-07-27 SDPR  serum deprivation response  SDPR  serum deprivation response (phosphatidylserine binding protein)  Symbol and/or name change 5135510 APPROVED