CCN3 (cellular communication network factor 3) - Rat Genome Database

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Gene: CCN3 (cellular communication network factor 3) Homo sapiens
Analyze
Symbol: CCN3
Name: cellular communication network factor 3
RGD ID: 732996
HGNC Page HGNC
Description: Exhibits Notch binding activity and integrin binding activity. Involved in several processes, including ameboidal-type cell migration; endothelial cell-cell adhesion; and regulation of signal transduction. Localizes to cytoplasm; gap junction; and intracellular membrane-bounded organelle. Biomarker of pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCN family member 3; IBP-9; IGF-binding protein 9; IGFBP-9; IGFBP9; insulin-like growth factor-binding protein 9; nephro blastoma-overexpressed gene protein homolog; nephroblastoma overexpressed; nephroblastoma-overexpressed gene protein homolog; NOV; NOVh; protein NOV homolog
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 Ensembl8119,416,446 - 119,424,434 (+)EnsemblGRCh38hg38GRCh38
GRCh388119,416,446 - 119,424,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,428,686 - 120,436,674 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,497,882 - 120,505,776 (+)NCBINCBI36hg18NCBI36
Build 348120,497,881 - 120,505,776NCBI
Celera8116,617,968 - 116,626,094 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8115,749,069 - 115,757,195 (+)NCBIHuRef
CHM1_18120,469,559 - 120,477,685 (+)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
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-nitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
afimoxifene  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bromochloroacetic acid  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
chlorpromazine  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
D-mannitol  (ISO)
DDT  (ISO)
dexamethasone  (EXP)
diazepam  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
fulvestrant  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
isoflavones  (EXP)
levonorgestrel  (EXP)
lucanthone  (EXP)
methylisothiazolinone  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (EXP)
panobinostat  (EXP)
pentanal  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
T-2 toxin  (EXP)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
triadimefon  (EXP)
trichostatin A  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1334251   PMID:7520150   PMID:8622864   PMID:8756624   PMID:9927660   PMID:10084601   PMID:10474687   PMID:10852911   PMID:11502835   PMID:11891184   PMID:12050162   PMID:12147716  
PMID:12477932   PMID:12519873   PMID:12695522   PMID:12902636   PMID:14519668   PMID:14606958   PMID:15053922   PMID:15181016   PMID:15213231   PMID:15340161   PMID:15489334   PMID:15611078  
PMID:15647383   PMID:15824736   PMID:16145471   PMID:16344560   PMID:16600215   PMID:16670264   PMID:17101694   PMID:17163153   PMID:17340618   PMID:17463287   PMID:17566092   PMID:17968313  
PMID:18029348   PMID:18066593   PMID:18089610   PMID:18245471   PMID:18245529   PMID:18418052   PMID:18984771   PMID:19286457   PMID:19695675   PMID:19706598   PMID:19834535   PMID:20010302  
PMID:20139355   PMID:20182440   PMID:20237132   PMID:20336664   PMID:20800603   PMID:21063504   PMID:21145881   PMID:21209863   PMID:21344378   PMID:21423212   PMID:21514448   PMID:21626137  
PMID:21784733   PMID:21871891   PMID:21873635   PMID:21898398   PMID:21909110   PMID:21988832   PMID:22345292   PMID:22507556   PMID:23061738   PMID:23220688   PMID:23318417   PMID:23536580  
PMID:23705021   PMID:23785511   PMID:24258112   PMID:24308033   PMID:24406215   PMID:24431313   PMID:24719190   PMID:24721786   PMID:25899830   PMID:26186194   PMID:26238193   PMID:26367310  
PMID:26498181   PMID:26744771   PMID:27471094   PMID:27503760   PMID:27633176   PMID:27815387   PMID:28412738   PMID:28514442   PMID:28862983   PMID:29061995   PMID:29287726   PMID:29308511  
PMID:29506624   PMID:29998862   PMID:30003937   PMID:30876855   PMID:31029128   PMID:31202437   PMID:31284378   PMID:31454155   PMID:31494663   PMID:31545412   PMID:31805888   PMID:31954725  
PMID:32296183   PMID:32455138   PMID:33107671  


Genomics

Comparative Map Data
CCN3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8119,416,446 - 119,424,434 (+)EnsemblGRCh38hg38GRCh38
GRCh388119,416,446 - 119,424,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,428,686 - 120,436,674 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,497,882 - 120,505,776 (+)NCBINCBI36hg18NCBI36
Build 348120,497,881 - 120,505,776NCBI
Celera8116,617,968 - 116,626,094 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8115,749,069 - 115,757,195 (+)NCBIHuRef
CHM1_18120,469,559 - 120,477,685 (+)NCBICHM1_1
Ccn3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,609,306 - 54,617,158 (+)NCBIGRCm39mm39
GRCm39 Ensembl1554,609,098 - 54,617,435 (+)Ensembl
GRCm381554,745,910 - 54,753,762 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1554,745,702 - 54,754,039 (+)EnsemblGRCm38mm10GRCm38
MGSCv371554,577,483 - 54,585,317 (+)NCBIGRCm37mm9NCBIm37
MGSCv361554,576,011 - 54,583,845 (+)NCBImm8
Celera1556,280,961 - 56,288,712 (+)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1521.49NCBI
Ccn3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2786,094,000 - 86,101,022 (+)NCBI
Rnor_6.0 Ensembl794,375,020 - 94,383,024 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0794,375,134 - 94,382,154 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0795,015,159 - 95,022,179 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4791,162,676 - 91,169,696 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1791,196,905 - 91,203,925 (+)NCBI
Celera782,897,053 - 82,904,052 (+)NCBICelera
Cytogenetic Map7q32NCBI
Ccn3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541725,218,613 - 25,225,755 (+)NCBIChiLan1.0ChiLan1.0
CCN3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18118,856,969 - 118,865,039 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8118,855,445 - 118,865,039 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08116,105,935 - 116,114,241 (+)NCBIMhudiblu_PPA_v0panPan3
CCN3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,507,586 - 18,515,755 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,507,580 - 18,514,619 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,513,047 - 18,521,248 (+)NCBI
ROS_Cfam_1.01318,834,948 - 18,843,041 (+)NCBI
UMICH_Zoey_3.11318,562,694 - 18,570,869 (+)NCBI
UNSW_CanFamBas_1.01318,661,289 - 18,669,494 (+)NCBI
UU_Cfam_GSD_1.01318,892,544 - 18,900,635 (+)NCBI
Ccn3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,752,276 - 19,759,704 (-)NCBI
SpeTri2.0NW_00493647027,178,439 - 27,185,554 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCN3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl419,505,700 - 19,514,797 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1419,505,698 - 19,514,481 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2420,525,288 - 20,534,032 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCN3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18113,989,862 - 113,998,187 (+)NCBI
Ccn3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476317,573,693 - 17,580,884 (+)NCBI

Position Markers
NOV_8510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,435,362 - 120,436,276UniSTSGRCh37
Build 368120,504,543 - 120,505,457RGDNCBI36
Celera8116,624,778 - 116,625,692RGD
HuRef8115,755,879 - 115,756,793UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:727
Count of miRNA genes:551
Interacting mature miRNAs:613
Transcripts:ENST00000259526, ENST00000520082
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.


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 392 77 137 1 135
Medium 558 1151 1124 24 70 17 2665 214 1411 187 544 987 13 707 1741
Low 1819 1196 344 422 1048 273 1306 1729 2248 221 882 575 160 1 497 679 1 1
Below cutoff 45 243 172 171 509 169 247 250 62 10 22 34 2 233 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY082381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS021388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA162276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU118751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X96584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000259526   ⟹   ENSP00000259526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,416,446 - 119,424,434 (+)Ensembl
RefSeq Acc Id: ENST00000520082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,416,450 - 119,417,120 (+)Ensembl
RefSeq Acc Id: NM_002514   ⟹   NP_002505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,416,446 - 119,424,434 (+)NCBI
GRCh378120,428,552 - 120,436,678 (+)ENTREZGENE
Build 368120,497,882 - 120,505,776 (+)NCBI Archive
HuRef8115,749,069 - 115,757,195 (+)ENTREZGENE
CHM1_18120,469,559 - 120,477,685 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002505   ⟸   NM_002514
- Peptide Label: precursor
- UniProtKB: P48745 (UniProtKB/Swiss-Prot),   A0A024R9J4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000259526   ⟸   ENST00000259526
Protein Domains
CTCK   IGFBP N-terminal   TSP type-1   VWFC

Promoters
RGD ID:7214063
Promoter ID:EPDNEW_H12777
Type:initiation region
Name:NOV_1
Description:nephroblastoma overexpressed
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,416,446 - 119,416,506EPDNEW
RGD ID:6806901
Promoter ID:HG_KWN:61981
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_002514
Position:
Human AssemblyChrPosition (strand)Source
Build 368120,497,711 - 120,498,211 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.12(chr8:119336700-119893839)x3 copy number gain See cases [RCV000136693] Chr8:119336700..119893839 [GRCh38]
Chr8:120348940..120906079 [GRCh37]
Chr8:120418121..120975260 [NCBI36]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q24.12(chr8:118899704-119750010)x1 copy number loss See cases [RCV000137740] Chr8:118899704..119750010 [GRCh38]
Chr8:119911943..120762250 [GRCh37]
Chr8:119981124..120831431 [NCBI36]
Chr8:8q24.12
likely benign
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3 copy number gain See cases [RCV000139886] Chr8:118626991..119703035 [GRCh38]
Chr8:119639230..120715275 [GRCh37]
Chr8:119708411..120784456 [NCBI36]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_002514.4(CCN3):c.605C>G (p.Ser202Ter) single nucleotide variant Long QT syndrome [RCV000190186] Chr8:119419173 [GRCh38]
Chr8:120431413 [GRCh37]
Chr8:8q24.12
likely benign
GRCh37/hg19 8q24.12(chr8:119936372-120651018)x3 copy number gain See cases [RCV000447347] Chr8:119936372..120651018 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q24.12(chr8:120327858-120517165)x1 copy number loss not provided [RCV000682938] Chr8:120327858..120517165 [GRCh37]
Chr8:8q24.12
uncertain significance
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120326083-120467179)x3 copy number gain not provided [RCV000747798] Chr8:120326083..120467179 [GRCh37]
Chr8:8q24.12
benign
NM_002514.4(CCN3):c.291C>A (p.Asn97Lys) single nucleotide variant not provided [RCV000894764] Chr8:119416950 [GRCh38]
Chr8:120429190 [GRCh37]
Chr8:8q24.12
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_002514.4(CCN3):c.44G>T (p.Cys15Phe) single nucleotide variant not provided [RCV000955395] Chr8:119416576 [GRCh38]
Chr8:120428816 [GRCh37]
Chr8:8q24.12
benign
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7885 AgrOrtholog
COSMIC CCN3 COSMIC
Ensembl Genes ENSG00000136999 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000259526 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000259526 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000136999 GTEx
HGNC ID HGNC:7885 ENTREZGENE
Human Proteome Map CCN3 Human Proteome Map
InterPro Cys_knot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hormone_CN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGFBP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGFBP_CNN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Insulin_GF-bd_Cys-rich_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_CCN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4856 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4856 ENTREZGENE
OMIM 164958 OMIM
Pfam Cys_knot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGFBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_CCN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31687 PharmGKB
PIRSF IGFBP_rP_CNN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CTCK_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTCK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGFBP_N_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGFBP_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00121 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9J4 ENTREZGENE, UniProtKB/TrEMBL
  CCN3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R5X7 UniProtKB/Swiss-Prot
  Q6I9S3 UniProtKB/Swiss-Prot
  Q96BY5 UniProtKB/Swiss-Prot
  Q9UDE4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-10-16 CCN3  cellular communication network factor 3  NOV  nephroblastoma overexpressed  Symbol and/or name change 5135510 APPROVED
2012-03-01 NOV  nephroblastoma overexpressed  NOV  nephroblastoma overexpressed gene  Symbol and/or name change 5135510 APPROVED