C2CD2 (C2 calcium dependent domain containing 2) - Rat Genome Database

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Gene: C2CD2 (C2 calcium dependent domain containing 2) Homo sapiens
Analyze
Symbol: C2CD2
Name: C2 calcium dependent domain containing 2
RGD ID: 1351796
HGNC Page HGNC
Description: Localizes to cytosol and nucleus; INTERACTS WITH 17beta-estradiol; 2-hydroxypropanoic acid; 3-isobutyl-1-methyl-7H-xanthine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C2 calcium-dependent domain containing 2; C2 domain-containing protein 2; C21orf25; C21orf258; DKFZp586F0422; DKFZp686O198; MGC71445; TMEM24 related geme; TMEM24-like; TMEM24L; transmembrane protein 24-like
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 Ensembl2141,885,112 - 41,954,018 (-)EnsemblGRCh38hg38GRCh38
GRCh382141,885,110 - 41,954,018 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372143,305,221 - 43,374,127 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,178,288 - 42,247,068 (-)NCBINCBI36hg18NCBI36
Build 342142,178,290 - 42,219,847NCBI
Celera2128,452,727 - 28,521,539 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2128,723,171 - 28,791,614 (-)NCBIHuRef
CHM1_12142,866,059 - 42,934,842 (-)NCBICHM1_1
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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:10830953   PMID:12477932   PMID:15289880   PMID:16780588   PMID:19322201   PMID:20494980   PMID:24057671   PMID:26186194   PMID:28514442   PMID:28611215   PMID:28692057   PMID:29158487  
PMID:31177093  


Genomics

Comparative Map Data
C2CD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2141,885,112 - 41,954,018 (-)EnsemblGRCh38hg38GRCh38
GRCh382141,885,110 - 41,954,018 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372143,305,221 - 43,374,127 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,178,288 - 42,247,068 (-)NCBINCBI36hg18NCBI36
Build 342142,178,290 - 42,219,847NCBI
Celera2128,452,727 - 28,521,539 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2128,723,171 - 28,791,614 (-)NCBIHuRef
CHM1_12142,866,059 - 42,934,842 (-)NCBICHM1_1
C2cd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391697,656,409 - 97,727,248 (-)NCBIGRCm39mm39
GRCm39 Ensembl1697,656,409 - 97,763,798 (-)Ensembl
GRCm381697,855,209 - 97,925,795 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1697,855,209 - 97,962,598 (-)EnsemblGRCm38mm10GRCm38
MGSCv371698,076,816 - 98,144,243 (-)NCBIGRCm37mm9NCBIm37
MGSCv361698,013,678 - 98,077,513 (-)NCBImm8
Celera1698,906,746 - 98,974,176 (-)NCBICelera
Cytogenetic Map16C4NCBI
C2cd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21137,225,321 - 37,289,741 (-)NCBI
Rnor_6.0 Ensembl1138,357,424 - 38,420,119 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01138,354,746 - 38,420,133 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01141,867,286 - 41,929,981 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41137,873,369 - 37,935,054 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11137,930,958 - 37,992,643 (-)NCBI
Celera1137,112,352 - 37,174,079 (-)NCBICelera
Cytogenetic Map11q12NCBI
C2cd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540739,618,252 - 39,663,885 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540739,627,435 - 39,665,156 (+)NCBIChiLan1.0ChiLan1.0
C2CD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12141,532,070 - 41,600,080 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2141,532,070 - 41,600,084 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02128,208,474 - 28,277,366 (-)NCBIMhudiblu_PPA_v0panPan3
C2CD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13136,291,853 - 36,355,472 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3136,274,539 - 36,348,657 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3135,443,826 - 35,500,709 (-)NCBI
ROS_Cfam_1.03135,808,806 - 35,866,037 (-)NCBI
UMICH_Zoey_3.13135,702,724 - 35,759,690 (-)NCBI
UNSW_CanFamBas_1.03135,682,219 - 35,739,124 (-)NCBI
UU_Cfam_GSD_1.03136,176,757 - 36,234,044 (-)NCBI
C2cd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497135,544,860 - 35,596,401 (-)NCBI
SpeTri2.0NW_0049365001,870,419 - 1,922,963 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C2CD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13205,246,139 - 205,313,717 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113205,248,991 - 205,313,868 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213215,572,982 - 215,639,714 (-)NCBISscrofa10.2Sscrofa10.2susScr3
C2CD2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1285,769,419 - 85,837,269 (-)NCBI
ChlSab1.1 Ensembl285,766,996 - 85,837,182 (-)Ensembl
C2cd2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474528,346,470 - 28,393,529 (+)NCBI

Position Markers
WI-20893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,305,257 - 43,305,543UniSTSGRCh37
Build 362142,178,326 - 42,178,612RGDNCBI36
Celera2128,452,765 - 28,453,051RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,723,209 - 28,723,495UniSTS
Whitehead-RH Map21232.7UniSTS
NCBI RH Map21353.5UniSTS
RH79573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,305,248 - 43,305,452UniSTSGRCh37
Build 362142,178,317 - 42,178,521RGDNCBI36
Celera2128,452,756 - 28,452,960RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,723,200 - 28,723,404UniSTS
RH101928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,305,582 - 43,305,762UniSTSGRCh37
Build 362142,178,651 - 42,178,831RGDNCBI36
Celera2128,453,090 - 28,453,270RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,723,534 - 28,723,714UniSTS
GeneMap99-GB4 RH Map21227.21UniSTS
RH121883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,305,284 - 43,305,421UniSTSGRCh37
Build 362142,178,353 - 42,178,490RGDNCBI36
Celera2128,452,792 - 28,452,929RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,723,236 - 28,723,373UniSTS
TNG Radiation Hybrid Map2116613.0UniSTS
D21S1728E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,305,264 - 43,305,353UniSTSGRCh37
Build 362142,178,333 - 42,178,422RGDNCBI36
Celera2128,452,772 - 28,452,861RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,723,216 - 28,723,305UniSTS
RH45596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,335,985 - 43,336,131UniSTSGRCh37
Build 362142,209,054 - 42,209,200RGDNCBI36
Celera2128,483,513 - 28,483,659RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,753,941 - 28,754,087UniSTS
GeneMap99-GB4 RH Map21225.8UniSTS
NCBI RH Map21385.9UniSTS
D21S1863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,354,612 - 43,354,778UniSTSGRCh37
GRCh372143,354,553 - 43,354,778UniSTSGRCh37
Build 362142,227,622 - 42,227,847RGDNCBI36
Celera2128,502,078 - 28,502,303RGD
Celera2128,502,137 - 28,502,303UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2128,772,454 - 28,772,679UniSTS
HuRef2128,772,513 - 28,772,679UniSTS
TNG Radiation Hybrid Map2116634.0UniSTS
Stanford-G3 RH Map211495.0UniSTS
NCBI RH Map21368.0UniSTS
G34529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,308,762 - 43,308,914UniSTSGRCh37
Build 362142,181,831 - 42,181,983RGDNCBI36
Celera2128,456,269 - 28,456,421RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,726,713 - 28,726,865UniSTS
D5S2584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,308,824 - 43,308,914UniSTSGRCh37
Build 362142,181,893 - 42,181,983RGDNCBI36
Celera2128,456,331 - 28,456,421RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,726,775 - 28,726,865UniSTS
TNG Radiation Hybrid Map2116609.0UniSTS
Stanford-G3 RH Map211471.0UniSTS
NCBI RH Map21362.9UniSTS
GeneMap99-G3 RH Map211471.0UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
SHGC-147283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.3UniSTS
HuRef2128,731,248 - 28,731,549UniSTS
TNG Radiation Hybrid Map2116609.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5846
Count of miRNA genes:1152
Interacting mature miRNAs:1442
Transcripts:ENST00000329623, ENST00000380486, ENST00000449165, ENST00000467074, ENST00000478372, ENST00000482084, ENST00000482186, ENST00000490479
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 pharyngeal arch
High
Medium 1653 1361 1074 158 580 35 3329 688 1725 186 987 1237 131 1203 1956 3
Low 784 1402 652 466 1124 430 1020 1504 2004 233 472 372 43 1 1 832 3 2
Below cutoff 2 228 244 7 5 4 1 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB047784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB047785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI143200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI298951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R13033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329623   ⟹   ENSP00000329302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,885,112 - 41,926,690 (-)Ensembl
RefSeq Acc Id: ENST00000380486   ⟹   ENSP00000369853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,885,112 - 41,954,018 (-)Ensembl
RefSeq Acc Id: ENST00000449165   ⟹   ENSP00000388704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,885,112 - 41,901,652 (-)Ensembl
RefSeq Acc Id: ENST00000467074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,900,953 - 41,926,672 (-)Ensembl
RefSeq Acc Id: ENST00000478372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,952,946 - 41,953,519 (-)Ensembl
RefSeq Acc Id: ENST00000482084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,886,673 - 41,919,033 (-)Ensembl
RefSeq Acc Id: ENST00000482186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,886,673 - 41,908,802 (-)Ensembl
RefSeq Acc Id: ENST00000490479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2141,912,160 - 41,942,160 (-)Ensembl
RefSeq Acc Id: NM_015500   ⟹   NP_056315
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,885,112 - 41,954,018 (-)NCBI
GRCh372143,305,219 - 43,374,066 (-)NCBI
Build 362142,178,288 - 42,247,068 (-)NCBI Archive
Celera2128,452,727 - 28,521,539 (-)RGD
HuRef2128,723,171 - 28,791,614 (-)ENTREZGENE
CHM1_12142,866,059 - 42,934,842 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199050   ⟹   NP_950251
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,885,112 - 41,926,703 (-)NCBI
GRCh372143,305,219 - 43,374,066 (-)NCBI
Build 362142,178,288 - 42,219,868 (-)NCBI Archive
Celera2128,452,727 - 28,521,539 (-)RGD
HuRef2128,723,171 - 28,791,614 (-)ENTREZGENE
CHM1_12142,866,059 - 42,907,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261109   ⟹   XP_005261166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,886,171 - 41,926,562 (-)NCBI
GRCh372143,305,219 - 43,374,066 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529522   ⟹   XP_011527824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,885,110 - 41,953,966 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529523   ⟹   XP_011527825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,886,171 - 41,953,519 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529524   ⟹   XP_011527826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,889,234 - 41,953,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028315   ⟹   XP_016883804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,885,110 - 41,918,922 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056315   ⟸   NM_015500
- Peptide Label: isoform 1
- UniProtKB: Q9Y426 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_950251   ⟸   NM_199050
- Peptide Label: isoform 2
- UniProtKB: Q9Y426 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261166   ⟸   XM_005261109
- Peptide Label: isoform X3
- UniProtKB: Q9Y426 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527824   ⟸   XM_011529522
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527825   ⟸   XM_011529523
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011527826   ⟸   XM_011529524
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016883804   ⟸   XM_017028315
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000329302   ⟸   ENST00000329623
RefSeq Acc Id: ENSP00000369853   ⟸   ENST00000380486
RefSeq Acc Id: ENSP00000388704   ⟸   ENST00000449165
Protein Domains
C2   SMP-LBD   SMP_C2CD2L

Promoters
RGD ID:13602904
Promoter ID:EPDNEW_H27636
Type:initiation region
Name:C2CD2_2
Description:C2 calcium dependent domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27637  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,926,691 - 41,926,751EPDNEW
RGD ID:13602906
Promoter ID:EPDNEW_H27637
Type:initiation region
Name:C2CD2_1
Description:C2 calcium dependent domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27636  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,953,952 - 41,954,012EPDNEW
RGD ID:6799359
Promoter ID:HG_KWN:41002
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002YZT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,201,201 - 42,201,701 (-)MPROMDB
RGD ID:6799357
Promoter ID:HG_KWN:41005
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_199050,   OTTHUMT00000195269,   UC002YZX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,219,526 - 42,220,026 (-)MPROMDB
RGD ID:6799358
Promoter ID:HG_KWN:41007
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015500,   OTTHUMT00000195275
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,247,036 - 42,248,002 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_015500.1(C2CD2):c.1706C>T (p.Ser569Phe) single nucleotide variant Malignant melanoma [RCV000072847] Chr21:41899217 [GRCh38]
Chr21:43319326 [GRCh37]
Chr21:42192395 [NCBI36]
Chr21:21q22.3
not provided
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3 copy number gain See cases [RCV000143383] Chr21:41368412..42556043 [GRCh38]
Chr21:42740339..43976153 [GRCh37]
Chr21:41662209..42849222 [NCBI36]
Chr21:21q22.3
likely benign|uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 copy number gain See cases [RCV000239953] Chr21:39841248..44652723 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1 copy number loss See cases [RCV000446516] Chr21:38790552..43619940 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3 copy number gain See cases [RCV000511842] Chr21:42661850..43590844 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 copy number loss not provided [RCV000741567] Chr21:40364245..44169928 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43350199-43353470)x1 copy number loss not provided [RCV000741587] Chr21:43350199..43353470 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43350199-43353725)x0 copy number loss not provided [RCV000741588] Chr21:43350199..43353725 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
NM_015500.2(C2CD2):c.1689C>T (p.Ala563=) single nucleotide variant not provided [RCV000948094] Chr21:41899234 [GRCh38]
Chr21:43319343 [GRCh37]
Chr21:21q22.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787405] Chr21:42300424..43682911 [GRCh37]
Chr21:21q22.2-22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43342136-43456681)x1 copy number loss not provided [RCV001007137] Chr21:43342136..43456681 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_015500.2(C2CD2):c.1870+8C>T single nucleotide variant not provided [RCV000958118] Chr21:41899045 [GRCh38]
Chr21:43319154 [GRCh37]
Chr21:21q22.3
benign
NM_015500.2(C2CD2):c.1287C>T (p.Val429=) single nucleotide variant not provided [RCV000958119] Chr21:41907023 [GRCh38]
Chr21:43327132 [GRCh37]
Chr21:21q22.3
benign
NM_015500.2(C2CD2):c.1006C>A (p.Arg336=) single nucleotide variant not provided [RCV000958120] Chr21:41909471 [GRCh38]
Chr21:43329580 [GRCh37]
Chr21:21q22.3
benign
NM_015500.2(C2CD2):c.312G>A (p.Pro104=) single nucleotide variant not provided [RCV000958121] Chr21:41942213 [GRCh38]
Chr21:43362322 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1266 AgrOrtholog
COSMIC C2CD2 COSMIC
Ensembl Genes ENSG00000157617 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000329302 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388704 UniProtKB/TrEMBL
Ensembl Transcript ENST00000329623 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000449165 UniProtKB/TrEMBL
  ENST00000482084 ENTREZGENE
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157617 GTEx
HGNC ID HGNC:1266 ENTREZGENE
Human Proteome Map C2CD2 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2CD2/C2CD2L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP_C2CD2L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25966 UniProtKB/Swiss-Prot
NCBI Gene 25966 ENTREZGENE
OMIM 617581 OMIM
PANTHER PTHR21119 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP_C2CD2L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162379018 PharmGKB
PROSITE PS50004 UniProtKB/Swiss-Prot
UniProt C2CD2_HUMAN UniProtKB/Swiss-Prot
  H7BZB0_HUMAN UniProtKB/TrEMBL
  Q6P6D1_HUMAN UniProtKB/TrEMBL
  Q9Y426 ENTREZGENE
UniProt Secondary Q5R2V7 UniProtKB/Swiss-Prot
  Q6AHX8 UniProtKB/Swiss-Prot
  Q9NSE6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 C2CD2  C2 calcium dependent domain containing 2    C2 calcium-dependent domain containing 2  Symbol and/or name change 5135510 APPROVED