NCAN (neurocan) - Rat Genome Database

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Pathways
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Gene: NCAN (neurocan) Homo sapiens
Analyze
Symbol: NCAN
Name: neurocan
RGD ID: 1344259
HGNC Page HGNC:2465
Description: Predicted to enable several functions, including calcium ion binding activity; carbohydrate binding activity; and hyaluronic acid binding activity. Predicted to be involved in several processes, including nervous system development; positive regulation of neuroblast proliferation; and regulation of postsynapse organization. Predicted to act upstream of or within regulation of synapse structural plasticity. Predicted to be located in Golgi lumen; extracellular region; and lysosomal lumen. Predicted to be active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and perineuronal net.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: chondroitin sulfate proteoglycan 3 (neurocan); CSPG3; FLJ44681; neurocan core protein; neurocan proteoglycan
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
GRCh381919,211,958 - 19,252,233 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,211,958 - 19,252,233 (+)EnsemblGRCh38hg38GRCh38
GRCh371919,322,767 - 19,363,042 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361919,183,782 - 19,224,061 (+)NCBINCBI36Build 36hg18NCBI36
Build 341919,188,761 - 19,224,040NCBI
Celera1919,227,578 - 19,267,865 (+)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,887,259 - 18,927,121 (+)NCBIHuRef
CHM1_11919,323,541 - 19,363,822 (+)NCBICHM1_1
T2T-CHM13v2.01919,349,378 - 19,389,681 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. Cloning and primary structure of neurocan, a developmentally regulated, aggregating chondroitin sulfate proteoglycan of brain. Rauch U, etal., J Biol Chem 1992 Sep 25;267(27):19536-47.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7490074   PMID:7513709   PMID:8663515   PMID:8910306   PMID:9341124   PMID:9507007   PMID:9795216   PMID:10934197   PMID:11076863   PMID:12477932   PMID:14702039   PMID:15057824  
PMID:15146197   PMID:18193043   PMID:19060906   PMID:19060911   PMID:19148283   PMID:20679960   PMID:20686565   PMID:20950796   PMID:21353194   PMID:21873635   PMID:21976490   PMID:21997179  
PMID:22208664   PMID:22497794   PMID:22952076   PMID:23198940   PMID:23594525   PMID:23795679   PMID:23974872   PMID:24618891   PMID:24946282   PMID:24978903   PMID:25056061   PMID:25220293  
PMID:25801500   PMID:26758378   PMID:27887608   PMID:29670169   PMID:32583466   PMID:35831314  


Genomics

Comparative Map Data
NCAN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381919,211,958 - 19,252,233 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,211,958 - 19,252,233 (+)EnsemblGRCh38hg38GRCh38
GRCh371919,322,767 - 19,363,042 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361919,183,782 - 19,224,061 (+)NCBINCBI36Build 36hg18NCBI36
Build 341919,188,761 - 19,224,040NCBI
Celera1919,227,578 - 19,267,865 (+)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,887,259 - 18,927,121 (+)NCBIHuRef
CHM1_11919,323,541 - 19,363,822 (+)NCBICHM1_1
T2T-CHM13v2.01919,349,378 - 19,389,681 (+)NCBIT2T-CHM13v2.0
Ncan
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39870,545,735 - 70,573,494 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl870,545,735 - 70,573,523 (-)EnsemblGRCm39 Ensembl
GRCm38870,093,085 - 70,120,863 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,093,085 - 70,120,873 (-)EnsemblGRCm38mm10GRCm38
MGSCv37872,616,984 - 72,644,743 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36873,022,074 - 73,049,799 (-)NCBIMGSCv36mm8
MGSCv36869,493,766 - 69,521,494 (-)NCBIMGSCv36mm8
Celera872,625,364 - 72,676,283 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Ncan
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81619,335,907 - 19,362,371 (+)NCBIGRCr8
mRatBN7.21619,301,969 - 19,328,436 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1619,301,969 - 19,328,436 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1619,341,911 - 19,368,375 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01620,474,030 - 20,500,314 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01619,394,880 - 19,421,346 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01621,050,243 - 21,076,707 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1621,050,243 - 21,076,707 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01620,900,031 - 20,926,495 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,785,175 - 19,811,651 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1619,490,684 - 19,517,054 (+)NCBICelera
Cytogenetic Map16p14NCBI
Ncan
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555242,602,715 - 2,628,805 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555242,602,767 - 2,628,771 (-)NCBIChiLan1.0ChiLan1.0
NCAN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22024,074,594 - 24,114,955 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11923,080,898 - 23,121,256 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01918,650,522 - 18,690,882 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11919,652,839 - 19,694,317 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1919,657,766 - 19,691,998 (+)Ensemblpanpan1.1panPan2
NCAN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12043,944,257 - 43,970,864 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2043,945,143 - 43,970,886 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2043,861,374 - 43,887,972 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02044,432,151 - 44,458,987 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2044,432,159 - 44,458,951 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12043,669,443 - 43,696,090 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,079,265 - 44,105,873 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02044,354,579 - 44,381,189 (-)NCBIUU_Cfam_GSD_1.0
Ncan
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118202,642,791 - 202,669,871 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365962,189,838 - 2,218,987 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365962,190,593 - 2,218,963 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCAN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl258,638,808 - 58,674,130 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1258,638,808 - 58,669,757 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NCAN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1617,682,200 - 17,713,706 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl617,686,410 - 17,712,349 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660741,589,958 - 1,630,428 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ncan
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249082,102,445 - 2,125,820 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NCAN
80 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
NM_004386.2(NCAN):c.1296C>T (p.Thr432=) single nucleotide variant Malignant melanoma [RCV000072021] Chr19:19226709 [GRCh38]
Chr19:19337518 [GRCh37]
Chr19:19198518 [NCBI36]
Chr19:19p13.11		 not provided
NM_004386.2(NCAN):c.3326G>A (p.Trp1109Ter) single nucleotide variant Malignant melanoma [RCV000072022] Chr19:19238328 [GRCh38]
Chr19:19349137 [GRCh37]
Chr19:19210137 [NCBI36]
Chr19:19p13.11		 not provided
NM_004386.2(NCAN):c.3327G>A (p.Trp1109Ter) single nucleotide variant Malignant melanoma [RCV000072023] Chr19:19238329 [GRCh38]
Chr19:19349138 [GRCh37]
Chr19:19210138 [NCBI36]
Chr19:19p13.11		 not provided
NM_004386.2(NCAN):c.3537G>A (p.Ala1179=) single nucleotide variant Malignant melanoma [RCV000072024] Chr19:19245357 [GRCh38]
Chr19:19356166 [GRCh37]
Chr19:19217166 [NCBI36]
Chr19:19p13.11		 not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
chr19:19230868-24115369 complex variant complex Breast ductal adenocarcinoma [RCV000207223] Chr19:19230868..24115369 [GRCh37]
Chr19:19p13.11-12		 uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
NM_004386.3(NCAN):c.3115G>A (p.Ala1039Thr) single nucleotide variant Developmental dyslexia [RCV000497994] Chr19:19233884 [GRCh38]
Chr19:19344693 [GRCh37]
Chr19:19p13.11		 likely pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_004386.3(NCAN):c.3613C>T (p.Pro1205Ser) single nucleotide variant Inborn genetic diseases [RCV003294741] Chr19:19245433 [GRCh38]
Chr19:19356242 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2131A>G (p.Thr711Ala) single nucleotide variant Inborn genetic diseases [RCV003272694] Chr19:19227751 [GRCh38]
Chr19:19338560 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2614C>G (p.Pro872Ala) single nucleotide variant Inborn genetic diseases [RCV003266442] Chr19:19228234 [GRCh38]
Chr19:19339043 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_004386.3(NCAN):c.372G>A (p.Thr124=) single nucleotide variant not provided [RCV000962702] Chr19:19219213 [GRCh38]
Chr19:19330022 [GRCh37]
Chr19:19p13.11		 benign
NM_004386.3(NCAN):c.3114C>T (p.Phe1038=) single nucleotide variant not provided [RCV000900774] Chr19:19233883 [GRCh38]
Chr19:19344692 [GRCh37]
Chr19:19p13.11		 benign
NM_004386.3(NCAN):c.1988C>A (p.Ala663Asp) single nucleotide variant Inborn genetic diseases [RCV003244909] Chr19:19227608 [GRCh38]
Chr19:19338417 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3 copy number gain not provided [RCV000849581] Chr19:19230490..19440304 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3828T>G (p.Arg1276=) single nucleotide variant not provided [RCV000955749] Chr19:19249773 [GRCh38]
Chr19:19360582 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NM_004386.3(NCAN):c.3658G>A (p.Ala1220Thr) single nucleotide variant Inborn genetic diseases [RCV003276801] Chr19:19248720 [GRCh38]
Chr19:19359529 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3577G>A (p.Gly1193Arg) single nucleotide variant Inborn genetic diseases [RCV003262590] Chr19:19245397 [GRCh38]
Chr19:19356206 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.322C>A (p.Gln108Lys) single nucleotide variant Inborn genetic diseases [RCV003285872] Chr19:19219163 [GRCh38]
Chr19:19329972 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.359G>A (p.Arg120Gln) single nucleotide variant Inborn genetic diseases [RCV002749568] Chr19:19219200 [GRCh38]
Chr19:19330009 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.1129G>T (p.Gly377Trp) single nucleotide variant Inborn genetic diseases [RCV002992721] Chr19:19226542 [GRCh38]
Chr19:19337351 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3499G>C (p.Glu1167Gln) single nucleotide variant Inborn genetic diseases [RCV002884032] Chr19:19245319 [GRCh38]
Chr19:19356128 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2135G>A (p.Ser712Asn) single nucleotide variant Inborn genetic diseases [RCV002837241] Chr19:19227755 [GRCh38]
Chr19:19338564 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3 copy number gain not provided [RCV002475626] Chr19:19218464..19494045 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.1726A>G (p.Ile576Val) single nucleotide variant Inborn genetic diseases [RCV002839951] Chr19:19227346 [GRCh38]
Chr19:19338155 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2374G>C (p.Ala792Pro) single nucleotide variant Inborn genetic diseases [RCV002778495] Chr19:19227994 [GRCh38]
Chr19:19338803 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004386.3(NCAN):c.3134T>C (p.Ile1045Thr) single nucleotide variant Inborn genetic diseases [RCV002659752] Chr19:19233903 [GRCh38]
Chr19:19344712 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.91G>A (p.Asp31Asn) single nucleotide variant Inborn genetic diseases [RCV002868116] Chr19:19218932 [GRCh38]
Chr19:19329741 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3427A>T (p.Thr1143Ser) single nucleotide variant Inborn genetic diseases [RCV002737762] Chr19:19240620 [GRCh38]
Chr19:19351429 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.263G>A (p.Arg88Gln) single nucleotide variant Inborn genetic diseases [RCV002977573] Chr19:19219104 [GRCh38]
Chr19:19329913 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3818A>G (p.Lys1273Arg) single nucleotide variant Inborn genetic diseases [RCV002911768] Chr19:19248880 [GRCh38]
Chr19:19359689 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3302G>A (p.Arg1101His) single nucleotide variant Inborn genetic diseases [RCV002980428] Chr19:19238304 [GRCh38]
Chr19:19349113 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.553A>G (p.Ser185Gly) single nucleotide variant Inborn genetic diseases [RCV002761911] Chr19:19224098 [GRCh38]
Chr19:19334907 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2901G>T (p.Glu967Asp) single nucleotide variant Inborn genetic diseases [RCV002911506] Chr19:19228521 [GRCh38]
Chr19:19339330 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3827G>A (p.Arg1276His) single nucleotide variant Inborn genetic diseases [RCV002986378] Chr19:19249772 [GRCh38]
Chr19:19360581 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2563G>A (p.Glu855Lys) single nucleotide variant Inborn genetic diseases [RCV002956584] Chr19:19228183 [GRCh38]
Chr19:19338992 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.460C>G (p.Pro154Ala) single nucleotide variant Inborn genetic diseases [RCV002764786] Chr19:19219301 [GRCh38]
Chr19:19330110 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3755A>T (p.His1252Leu) single nucleotide variant Inborn genetic diseases [RCV002827382] Chr19:19248817 [GRCh38]
Chr19:19359626 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.1385C>A (p.Thr462Asn) single nucleotide variant Inborn genetic diseases [RCV002744898] Chr19:19226798 [GRCh38]
Chr19:19337607 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3576C>A (p.Ser1192Arg) single nucleotide variant Inborn genetic diseases [RCV002712876] Chr19:19245396 [GRCh38]
Chr19:19356205 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2750C>T (p.Pro917Leu) single nucleotide variant Inborn genetic diseases [RCV002983341] Chr19:19228370 [GRCh38]
Chr19:19339179 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.1346G>A (p.Ser449Asn) single nucleotide variant Inborn genetic diseases [RCV002956346] Chr19:19226759 [GRCh38]
Chr19:19337568 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.661A>G (p.Thr221Ala) single nucleotide variant Inborn genetic diseases [RCV002929697] Chr19:19224316 [GRCh38]
Chr19:19335125 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2504C>T (p.Pro835Leu) single nucleotide variant Inborn genetic diseases [RCV003004120] Chr19:19228124 [GRCh38]
Chr19:19338933 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004386.3(NCAN):c.502C>T (p.Arg168Trp) single nucleotide variant Inborn genetic diseases [RCV002941382] Chr19:19224047 [GRCh38]
Chr19:19334856 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3464A>C (p.Asp1155Ala) single nucleotide variant Inborn genetic diseases [RCV002935454] Chr19:19240657 [GRCh38]
Chr19:19351466 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.251C>T (p.Ala84Val) single nucleotide variant Inborn genetic diseases [RCV002668889] Chr19:19219092 [GRCh38]
Chr19:19329901 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3815C>T (p.Thr1272Ile) single nucleotide variant Inborn genetic diseases [RCV002748116] Chr19:19248877 [GRCh38]
Chr19:19359686 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.635C>T (p.Ser212Phe) single nucleotide variant Inborn genetic diseases [RCV002831506] Chr19:19224180 [GRCh38]
Chr19:19334989 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.1346G>T (p.Ser449Ile) single nucleotide variant Inborn genetic diseases [RCV002855404] Chr19:19226759 [GRCh38]
Chr19:19337568 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.1783G>A (p.Ala595Thr) single nucleotide variant Inborn genetic diseases [RCV002963456] Chr19:19227403 [GRCh38]
Chr19:19338212 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3337G>A (p.Glu1113Lys) single nucleotide variant Inborn genetic diseases [RCV002897520] Chr19:19238339 [GRCh38]
Chr19:19349148 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3569A>T (p.His1190Leu) single nucleotide variant Inborn genetic diseases [RCV002831969] Chr19:19245389 [GRCh38]
Chr19:19356198 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3350G>A (p.Arg1117His) single nucleotide variant Inborn genetic diseases [RCV002831615] Chr19:19238352 [GRCh38]
Chr19:19349161 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3682G>A (p.Gly1228Ser) single nucleotide variant Inborn genetic diseases [RCV002831176] Chr19:19248744 [GRCh38]
Chr19:19359553 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.776G>T (p.Gly259Val) single nucleotide variant Inborn genetic diseases [RCV002724992] Chr19:19224431 [GRCh38]
Chr19:19335240 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3038A>G (p.Glu1013Gly) single nucleotide variant Inborn genetic diseases [RCV002679064] Chr19:19233807 [GRCh38]
Chr19:19344616 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2621C>T (p.Thr874Met) single nucleotide variant Inborn genetic diseases [RCV003174658] Chr19:19228241 [GRCh38]
Chr19:19339050 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2125G>A (p.Gly709Arg) single nucleotide variant Inborn genetic diseases [RCV003180806] Chr19:19227745 [GRCh38]
Chr19:19338554 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3841C>T (p.Arg1281Trp) single nucleotide variant Inborn genetic diseases [RCV003282781] Chr19:19249786 [GRCh38]
Chr19:19360595 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3118G>A (p.Gly1040Arg) single nucleotide variant Inborn genetic diseases [RCV003214475] Chr19:19233887 [GRCh38]
Chr19:19344696 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3355C>T (p.Arg1119Cys) single nucleotide variant Inborn genetic diseases [RCV003195811] Chr19:19238357 [GRCh38]
Chr19:19349166 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.117G>A (p.Met39Ile) single nucleotide variant Inborn genetic diseases [RCV003186016] Chr19:19218958 [GRCh38]
Chr19:19329767 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2101C>T (p.Pro701Ser) single nucleotide variant Inborn genetic diseases [RCV003309031] Chr19:19227721 [GRCh38]
Chr19:19338530 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2840G>A (p.Gly947Glu) single nucleotide variant Inborn genetic diseases [RCV003358486] Chr19:19228460 [GRCh38]
Chr19:19339269 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.1169T>C (p.Leu390Pro) single nucleotide variant Inborn genetic diseases [RCV003345130] Chr19:19226582 [GRCh38]
Chr19:19337391 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3826C>T (p.Arg1276Cys) single nucleotide variant Inborn genetic diseases [RCV003383550] Chr19:19249771 [GRCh38]
Chr19:19360580 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.76A>G (p.Thr26Ala) single nucleotide variant Inborn genetic diseases [RCV003366076] Chr19:19218917 [GRCh38]
Chr19:19329726 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.89C>A (p.Thr30Asn) single nucleotide variant Inborn genetic diseases [RCV003349223] Chr19:19218930 [GRCh38]
Chr19:19329739 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2855C>T (p.Pro952Leu) single nucleotide variant Inborn genetic diseases [RCV003351936] Chr19:19228475 [GRCh38]
Chr19:19339284 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2698G>A (p.Glu900Lys) single nucleotide variant Inborn genetic diseases [RCV003373525] Chr19:19228318 [GRCh38]
Chr19:19339127 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.3077A>G (p.Asn1026Ser) single nucleotide variant Inborn genetic diseases [RCV003353553] Chr19:19233846 [GRCh38]
Chr19:19344655 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.245G>T (p.Arg82Leu) single nucleotide variant Inborn genetic diseases [RCV003370185] Chr19:19219086 [GRCh38]
Chr19:19329895 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.460C>T (p.Pro154Ser) single nucleotide variant Inborn genetic diseases [RCV003374400] Chr19:19219301 [GRCh38]
Chr19:19330110 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004386.3(NCAN):c.2255G>T (p.Gly752Val) single nucleotide variant Inborn genetic diseases [RCV003349212] Chr19:19227875 [GRCh38]
Chr19:19338684 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1 copy number loss not specified [RCV003986109] Chr19:18926463..21100330 [GRCh37]
Chr19:19p13.11-12		 uncertain significance
NM_004386.3(NCAN):c.245G>A (p.Arg82Gln) single nucleotide variant Inborn genetic diseases [RCV003342747] Chr19:19219086 [GRCh38]
Chr19:19329895 [GRCh37]
Chr19:19p13.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1948
Count of miRNA genes:943
Interacting mature miRNAs:1111
Transcripts:ENST00000252575, ENST00000538881, ENST00000585410, ENST00000588231, ENST00000590187
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
D19S603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,359,824 - 19,359,959UniSTSGRCh37
Build 361919,220,824 - 19,220,959RGDNCBI36
Celera1919,264,628 - 19,264,763RGD
Cytogenetic Map19p12UniSTS
HuRef1918,923,884 - 18,924,019UniSTS
SHGC-105663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,361,162 - 19,361,466UniSTSGRCh37
Build 361919,222,162 - 19,222,466RGDNCBI36
Celera1919,265,966 - 19,266,270RGD
Cytogenetic Map19p12UniSTS
HuRef1918,925,222 - 18,925,526UniSTS
TNG Radiation Hybrid Map197919.0UniSTS
CSPG3_8286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,362,205 - 19,363,126UniSTSGRCh37
Build 361919,223,205 - 19,224,126RGDNCBI36
Celera1919,267,009 - 19,267,930RGD
HuRef1918,926,265 - 18,927,186UniSTS
D19S652E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,349,447 - 19,349,546UniSTSGRCh37
Build 361919,210,447 - 19,210,546RGDNCBI36
Celera1919,254,251 - 19,254,350RGD
Cytogenetic Map19p12UniSTS
HuRef1918,913,927 - 18,914,026UniSTS
GeneMap99-GB4 RH Map19102.21UniSTS
RH35856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,362,860 - 19,362,983UniSTSGRCh37
Build 361919,223,860 - 19,223,983RGDNCBI36
Celera1919,267,664 - 19,267,787RGD
Cytogenetic Map19p12UniSTS
HuRef1918,926,920 - 18,927,043UniSTS
GeneMap99-GB4 RH Map19102.32UniSTS


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
High 1
Medium 2 1 1 1 5 3 2334 2 10 1
Low 20 8 67 6 77 6 196 18 484 5 410 50 1 1 2 14
Below cutoff 2121 2486 1405 431 1366 277 3429 1813 849 125 787 1249 155 950 2385

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000252575   ⟹   ENSP00000252575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,211,958 - 19,252,233 (+)Ensembl
RefSeq Acc Id: ENST00000585410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,238,392 - 19,249,019 (+)Ensembl
RefSeq Acc Id: ENST00000588231   ⟹   ENSP00000465599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,238,259 - 19,249,929 (+)Ensembl
RefSeq Acc Id: ENST00000590187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,226,843 - 19,238,792 (+)Ensembl
RefSeq Acc Id: NM_004386   ⟹   NP_004377
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,211,958 - 19,252,233 (+)NCBI
GRCh371919,322,773 - 19,363,061 (+)NCBI
Build 361919,183,782 - 19,224,061 (+)NCBI Archive
HuRef1918,887,259 - 18,927,121 (+)ENTREZGENE
CHM1_11919,323,541 - 19,363,822 (+)NCBI
T2T-CHM13v2.01919,349,378 - 19,389,681 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004377   ⟸   NM_004386
- Peptide Label: precursor
- UniProtKB: Q9UPK6 (UniProtKB/Swiss-Prot),   O14594 (UniProtKB/Swiss-Prot),   Q4LE67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000252575   ⟸   ENST00000252575
RefSeq Acc Id: ENSP00000465599   ⟸   ENST00000588231
Protein Domains
C-type lectin   EGF-like   Ig-like   Ig-like V-type   Link   Sushi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14594-F1-model_v2 AlphaFold O14594 1-1321 view protein structure

Promoters
RGD ID:7239235
Promoter ID:EPDNEW_H25362
Type:initiation region
Name:NCAN_1
Description:neurocan
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,211,958 - 19,212,018EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2465 AgrOrtholog
COSMIC NCAN COSMIC
Ensembl Genes ENSG00000130287 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252575 ENTREZGENE
  ENST00000252575.11 UniProtKB/Swiss-Prot
  ENST00000588231.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130287 GTEx
HGNC ID HGNC:2465 ENTREZGENE
Human Proteome Map NCAN Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Link_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1463 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1463 ENTREZGENE
OMIM 600826 OMIM
PANTHER AGGRECAN/VERSICAN PROTEOGLYCAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-TYPE LECTIN DOMAIN FAMILY 19 MEMBER A-RELATED UniProtKB/TrEMBL
  MANNOSE, PHOSPHOLIPASE, LECTIN RECEPTOR RELATED UniProtKB/TrEMBL
  NEUROCAN CORE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lectin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xlink UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162396986 PharmGKB
PRINTS LINKMODULE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C_TYPE_LECTIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LINK_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LINK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LINK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56436 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt K7EKF8_HUMAN UniProtKB/TrEMBL
  NCAN_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4LE67 ENTREZGENE, UniProtKB/TrEMBL
  Q9UPK6 ENTREZGENE
UniProt Secondary Q9UPK6 UniProtKB/Swiss-Prot