DVL2 (dishevelled segment polarity protein 2) - Rat Genome Database

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Gene: DVL2 (dishevelled segment polarity protein 2) Homo sapiens
Analyze
Symbol: DVL2
Name: dishevelled segment polarity protein 2
RGD ID: 1320219
HGNC Page HGNC:3086
Description: Enables frizzled binding activity and identical protein binding activity. Involved in several processes, including Wnt signaling pathway; positive regulation of JNK cascade; and positive regulation of nitrogen compound metabolic process. Located in aggresome; cytoplasmic vesicle; and nuclear body.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dishevelled 2 (homologous to Drosophila dsh); dishevelled, dsh homolog 2; dishevelled-2; DSH homolog 2; segment polarity protein dishevelled homolog DVL-2
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
GRCh38177,225,342 - 7,234,517 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,225,342 - 7,234,517 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,128,661 - 7,137,836 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,069,385 - 7,078,587 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,069,384 - 7,078,587NCBI
Celera177,153,295 - 7,162,512 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,020,651 - 7,029,658 (-)NCBIHuRef
CHM1_1177,137,409 - 7,146,611 (-)NCBICHM1_1
T2T-CHM13v2.0177,126,253 - 7,135,444 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Planar cell polarity signaling in vertebrates. Jones C and Chen P, Bioessays. 2007 Feb;29(2):120-32.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. The Wnt Homepage Roel Nusse - Howard Hughes Medical Institute and the Department of Developmental Biology at Stanford University, California, USA
Additional References at PubMed
PMID:8662242   PMID:8817329   PMID:8887313   PMID:9192851   PMID:10644691   PMID:10806215   PMID:10829020   PMID:11742073   PMID:11779461   PMID:12477932   PMID:12533515   PMID:12805222  
PMID:12958364   PMID:15262978   PMID:15456783   PMID:15489334   PMID:16189514   PMID:16446366   PMID:16713569   PMID:17529994   PMID:17593335   PMID:18093802   PMID:18692936   PMID:18787224  
PMID:18838381   PMID:19137009   PMID:19249679   PMID:19322201   PMID:19379695   PMID:19388021   PMID:19453261   PMID:19465938   PMID:19625296   PMID:19913121   PMID:20137080   PMID:20219685  
PMID:20224554   PMID:20412773   PMID:20439735   PMID:20628086   PMID:20628365   PMID:20639871   PMID:20823832   PMID:21245303   PMID:21262972   PMID:21487968   PMID:21516116   PMID:21666888  
PMID:21691068   PMID:21873635   PMID:21988832   PMID:21990322   PMID:22106258   PMID:22223637   PMID:22609948   PMID:22610794   PMID:22655072   PMID:22773187   PMID:22826439   PMID:22863883  
PMID:22887353   PMID:22892949   PMID:23022960   PMID:23209302   PMID:23371553   PMID:23396967   PMID:23396968   PMID:23396981   PMID:23455922   PMID:23503679   PMID:23652996   PMID:23708998  
PMID:24366813   PMID:24427302   PMID:24431302   PMID:24469230   PMID:24469800   PMID:24550385   PMID:24613305   PMID:24616100   PMID:24639526   PMID:24643799   PMID:24727453   PMID:24893630  
PMID:24981860   PMID:25071155   PMID:25281560   PMID:25395054   PMID:25424568   PMID:25557784   PMID:25558878   PMID:25609649   PMID:25622892   PMID:25659891   PMID:25825496   PMID:25825523  
PMID:25871009   PMID:25891077   PMID:25921289   PMID:26013125   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26701932   PMID:26972000   PMID:27083564   PMID:27086035  
PMID:27107012   PMID:27107014   PMID:27229929   PMID:27234298   PMID:27432651   PMID:27477274   PMID:27599467   PMID:27648936   PMID:27744318   PMID:28119087   PMID:28187436   PMID:28366812  
PMID:28513833   PMID:28514442   PMID:28589433   PMID:28668722   PMID:28718761   PMID:29395067   PMID:29449653   PMID:29528187   PMID:29568061   PMID:29634390   PMID:29659741   PMID:29749449  
PMID:29867201   PMID:29892012   PMID:29916529   PMID:30166453   PMID:30463901   PMID:30619736   PMID:31046837   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31340145   PMID:31515488  
PMID:31519766   PMID:31723073   PMID:31732153   PMID:31753913   PMID:31876386   PMID:31963474   PMID:32103169   PMID:32601235   PMID:32632103   PMID:32687490   PMID:32707033   PMID:32776193  
PMID:32788342   PMID:32814053   PMID:32888647   PMID:32900645   PMID:32965059   PMID:33205477   PMID:33397691   PMID:33561744   PMID:33786993   PMID:33916271   PMID:33961781   PMID:34079125  
PMID:34139860   PMID:34155117   PMID:34244565   PMID:34299191   PMID:34417138   PMID:34597346   PMID:34674267   PMID:34702444   PMID:34709266   PMID:34709727   PMID:34807493   PMID:35121725  
PMID:35187752   PMID:35256949   PMID:35384245   PMID:35439318   PMID:35509083   PMID:35563538   PMID:35676246   PMID:35831314   PMID:35944360   PMID:35987950   PMID:36215168   PMID:36342472  
PMID:36357669   PMID:36398662   PMID:36634849   PMID:36720664   PMID:36776133   PMID:37257286   PMID:37589075   PMID:37774976   PMID:37827155  


Genomics

Comparative Map Data
DVL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,225,342 - 7,234,517 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,225,342 - 7,234,517 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,128,661 - 7,137,836 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,069,385 - 7,078,587 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,069,384 - 7,078,587NCBI
Celera177,153,295 - 7,162,512 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,020,651 - 7,029,658 (-)NCBIHuRef
CHM1_1177,137,409 - 7,146,611 (-)NCBICHM1_1
T2T-CHM13v2.0177,126,253 - 7,135,444 (-)NCBIT2T-CHM13v2.0
Dvl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,891,418 - 69,900,935 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,891,421 - 69,903,127 (+)EnsemblGRCm39 Ensembl
GRCm381170,000,592 - 70,010,109 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,000,595 - 70,012,301 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,814,128 - 69,823,611 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,816,821 - 69,826,304 (+)NCBIMGSCv36mm8
Celera1177,548,436 - 77,558,061 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.96NCBI
Dvl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,222,245 - 55,231,506 (+)NCBIGRCr8
mRatBN7.21054,723,356 - 54,732,823 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,723,411 - 54,732,820 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01056,609,810 - 56,619,269 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,610,051 - 56,619,269 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,354,931 - 56,364,388 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1053,877,195 - 53,886,407 (+)NCBICelera
Cytogenetic Map10q24NCBI
Dvl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,675,912 - 9,683,996 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,675,912 - 9,683,996 (+)NCBIChiLan1.0ChiLan1.0
DVL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21914,818,013 - 14,827,230 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11716,784,020 - 16,793,224 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,255,241 - 7,264,452 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,242,493 - 7,251,572 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,242,493 - 7,251,571 (-)Ensemblpanpan1.1panPan2
DVL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,194,326 - 32,201,922 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,194,313 - 32,201,857 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,332,631 - 32,340,205 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,299,943 - 32,307,523 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,299,946 - 32,307,706 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,265,249 - 32,272,821 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,224,284 - 32,231,849 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,401,214 - 32,408,791 (-)NCBIUU_Cfam_GSD_1.0
Dvl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,046,111 - 47,054,173 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595520,548 - 528,371 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595520,299 - 528,361 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DVL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,581,688 - 52,590,285 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,581,687 - 52,590,266 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23139,857,220 - 139,865,809 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DVL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,599,056 - 6,608,613 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,599,579 - 6,608,544 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,802,139 - 14,811,719 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dvl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247869,844,157 - 9,851,301 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247869,843,580 - 9,851,538 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DVL2
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1		 pathogenic
NM_004422.2(DVL2):c.2009C>T (p.Pro670Leu) single nucleotide variant Malignant melanoma [RCV000071665] Chr17:7226067 [GRCh38]
Chr17:7129386 [GRCh37]
Chr17:7070110 [NCBI36]
Chr17:17p13.1		 not provided
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 copy number gain See cases [RCV000139216] Chr17:6891357..7264234 [GRCh38]
Chr17:6794676..7167553 [GRCh37]
Chr17:6735400..7108277 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3 copy number gain Breast ductal adenocarcinoma [RCV000207224] Chr17:7120452..7165252 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3 copy number gain Breast ductal adenocarcinoma [RCV000207305] Chr17:7121580..7186623 [GRCh37]
Chr17:17p13.1		 likely pathogenic|uncertain significance
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000554101] Chr17:7224179 [GRCh38]
Chr17:7127498 [GRCh37]
Chr17:17p13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_004422.3(DVL2):c.636C>G (p.Asp212Glu) single nucleotide variant Inborn genetic diseases [RCV003271278] Chr17:7229828 [GRCh38]
Chr17:7133147 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1880G>A (p.Arg627Gln) single nucleotide variant Inborn genetic diseases [RCV003286350] Chr17:7226196 [GRCh38]
Chr17:7129515 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1153G>A (p.Ala385Thr) single nucleotide variant Inborn genetic diseases [RCV003277204] Chr17:7227733 [GRCh38]
Chr17:7131052 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
NM_004422.3(DVL2):c.621C>T (p.Ser207=) single nucleotide variant not specified [RCV000611833] Chr17:7229843 [GRCh38]
Chr17:7133162 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.7124585_7400253dup duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 uncertain significance
Single allele duplication Isolated Pierre-Robin syndrome [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7013365-7265208)x1 copy number loss not provided [RCV000739389] Chr17:7013365..7265208 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1662A>G (p.Gln554=) single nucleotide variant not provided [RCV001646073] Chr17:7226521 [GRCh38]
Chr17:7129840 [GRCh37]
Chr17:17p13.1		 benign
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.158C>T (p.Ala53Val) single nucleotide variant not provided [RCV000897972] Chr17:7234105 [GRCh38]
Chr17:7137424 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.951T>C (p.Leu317=) single nucleotide variant not provided [RCV000960181] Chr17:7229141 [GRCh38]
Chr17:7132460 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_004422.3(DVL2):c.356C>T (p.Pro119Leu) single nucleotide variant Inborn genetic diseases [RCV003249284] Chr17:7230339 [GRCh38]
Chr17:7133658 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7123304)_(7606804_?)del deletion Common variable immunodeficiency [RCV003107751] Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.*508C>T single nucleotide variant not provided [RCV001670759] Chr17:7225357 [GRCh38]
Chr17:7128676 [GRCh37]
Chr17:17p13.1		 benign
NM_004422.3(DVL2):c.1244G>A (p.Arg415Gln) single nucleotide variant DVL2-related condition [RCV003975760]|not provided [RCV000903553] Chr17:7227523 [GRCh38]
Chr17:7130842 [GRCh37]
Chr17:17p13.1		 benign
NM_004422.3(DVL2):c.1035-8C>T single nucleotide variant not provided [RCV000955269] Chr17:7228052 [GRCh38]
Chr17:7131371 [GRCh37]
Chr17:17p13.1		 benign
NM_004422.3(DVL2):c.*457G>A single nucleotide variant not provided [RCV001558280] Chr17:7225408 [GRCh38]
Chr17:7128727 [GRCh37]
Chr17:17p13.1		 likely benign
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1 copy number loss not provided [RCV001259300] Chr17:7014481..7283233 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_004422.3(DVL2):c.1544-16T>C single nucleotide variant not provided [RCV001539792] Chr17:7226655 [GRCh38]
Chr17:7129974 [GRCh37]
Chr17:17p13.1		 benign
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000020073] Chr17:7224040 [GRCh38]
Chr17:7127359 [GRCh37]
Chr17:17p13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3 copy number gain not provided [RCV002474897] Chr17:7043719..7193448 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV002309119] Chr17:7224711 [GRCh38]
Chr17:7128030 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000018.4(ACADVL):c.1632del (p.Thr545fs) deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV002310165] Chr17:7224505 [GRCh38]
Chr17:7127824 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_004422.3(DVL2):c.178A>G (p.Met60Val) single nucleotide variant Inborn genetic diseases [RCV002860204] Chr17:7234085 [GRCh38]
Chr17:7137404 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1414C>T (p.Arg472Trp) single nucleotide variant Inborn genetic diseases [RCV002728311] Chr17:7227219 [GRCh38]
Chr17:7130538 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.790A>G (p.Asn264Asp) single nucleotide variant Inborn genetic diseases [RCV002729861] Chr17:7229405 [GRCh38]
Chr17:7132724 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.374C>T (p.Thr125Ile) single nucleotide variant Inborn genetic diseases [RCV002733016] Chr17:7230321 [GRCh38]
Chr17:7133640 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.967A>T (p.Met323Leu) single nucleotide variant Inborn genetic diseases [RCV002845364] Chr17:7229036 [GRCh38]
Chr17:7132355 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1018A>G (p.Ile340Val) single nucleotide variant Inborn genetic diseases [RCV002980613] Chr17:7228985 [GRCh38]
Chr17:7132304 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1258C>T (p.His420Tyr) single nucleotide variant Inborn genetic diseases [RCV002765084] Chr17:7227509 [GRCh38]
Chr17:7130828 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.882C>G (p.Ile294Met) single nucleotide variant Inborn genetic diseases [RCV002892306] Chr17:7229210 [GRCh38]
Chr17:7132529 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.14G>T (p.Ser5Ile) single nucleotide variant Inborn genetic diseases [RCV002919535] Chr17:7234249 [GRCh38]
Chr17:7137568 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1831G>T (p.Ala611Ser) single nucleotide variant Inborn genetic diseases [RCV002743647] Chr17:7226245 [GRCh38]
Chr17:7129564 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1255G>A (p.Val419Ile) single nucleotide variant Inborn genetic diseases [RCV002714240] Chr17:7227512 [GRCh38]
Chr17:7130831 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.1727A>G (p.Tyr576Cys) single nucleotide variant Inborn genetic diseases [RCV002878517] Chr17:7226456 [GRCh38]
Chr17:7129775 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.442G>C (p.Glu148Gln) single nucleotide variant Inborn genetic diseases [RCV002835536] Chr17:7230124 [GRCh38]
Chr17:7133443 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.559C>T (p.Arg187Cys) single nucleotide variant Inborn genetic diseases [RCV002677313] Chr17:7229905 [GRCh38]
Chr17:7133224 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.1796G>C (p.Gly599Ala) single nucleotide variant Inborn genetic diseases [RCV003204788] Chr17:7226280 [GRCh38]
Chr17:7129599 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_004422.3(DVL2):c.1814G>C (p.Gly605Ala) single nucleotide variant Inborn genetic diseases [RCV003190636] Chr17:7226262 [GRCh38]
Chr17:7129581 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.481C>T (p.Arg161Trp) single nucleotide variant Inborn genetic diseases [RCV003218080] Chr17:7230085 [GRCh38]
Chr17:7133404 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_004422.3(DVL2):c.1061G>A (p.Cys354Tyr) single nucleotide variant Inborn genetic diseases [RCV003359600] Chr17:7228018 [GRCh38]
Chr17:7131337 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.289C>T (p.Pro97Ser) single nucleotide variant Inborn genetic diseases [RCV003358541] Chr17:7230406 [GRCh38]
Chr17:7133725 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004422.3(DVL2):c.750G>A (p.Thr250=) single nucleotide variant not provided [RCV003413108] Chr17:7229445 [GRCh38]
Chr17:7132764 [GRCh37]
Chr17:17p13.1		 likely benign
GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1 copy number loss not specified [RCV003987240] Chr17:7002380..7469251 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_004422.3(DVL2):c.-4G>C single nucleotide variant DVL2-related condition [RCV003949624] Chr17:7234266 [GRCh38]
Chr17:7137585 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.656+8T>G single nucleotide variant DVL2-related condition [RCV003919602] Chr17:7229800 [GRCh38]
Chr17:7133119 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.1604C>T (p.Thr535Ile) single nucleotide variant DVL2-related condition [RCV003973958] Chr17:7226579 [GRCh38]
Chr17:7129898 [GRCh37]
Chr17:17p13.1		 benign
NM_004422.3(DVL2):c.332C>T (p.Ala111Val) single nucleotide variant DVL2-related condition [RCV003974285] Chr17:7230363 [GRCh38]
Chr17:7133682 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.579G>A (p.Glu193=) single nucleotide variant DVL2-related condition [RCV003943856] Chr17:7229885 [GRCh38]
Chr17:7133204 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.213T>A (p.Ile71=) single nucleotide variant DVL2-related condition [RCV003944541] Chr17:7230779 [GRCh38]
Chr17:7134098 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.405C>T (p.Ser135=) single nucleotide variant DVL2-related condition [RCV003984794] Chr17:7230290 [GRCh38]
Chr17:7133609 [GRCh37]
Chr17:17p13.1		 benign
NM_004422.3(DVL2):c.24C>T (p.Gly8=) single nucleotide variant DVL2-related condition [RCV003951740] Chr17:7234239 [GRCh38]
Chr17:7137558 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.748-8C>T single nucleotide variant DVL2-related condition [RCV003909511] Chr17:7229455 [GRCh38]
Chr17:7132774 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.410+10T>C single nucleotide variant DVL2-related condition [RCV003976752] Chr17:7230275 [GRCh38]
Chr17:7133594 [GRCh37]
Chr17:17p13.1		 benign
NM_004422.3(DVL2):c.230G>A (p.Arg77His) single nucleotide variant DVL2-related condition [RCV003942126] Chr17:7230762 [GRCh38]
Chr17:7134081 [GRCh37]
Chr17:17p13.1		 likely benign
NM_004422.3(DVL2):c.53A>G (p.Tyr18Cys) single nucleotide variant Inborn genetic diseases [RCV003379535] Chr17:7234210 [GRCh38]
Chr17:7137529 [GRCh37]
Chr17:17p13.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR124-2hsa-miR-124-3pTarbaseexternal_infoMicroarrayPOSITIVE
MIR221hsa-miR-221-3pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI21487968

Predicted Target Of
Summary Value
Count of predictions:4687
Count of miRNA genes:1099
Interacting mature miRNAs:1397
Transcripts:ENST00000005340, ENST00000571745, ENST00000572285, ENST00000573354, ENST00000574143, ENST00000574591, ENST00000574642, ENST00000575086, ENST00000575458, ENST00000575756, ENST00000576285, ENST00000576439, ENST00000576840, ENST00000576949, ENST00000577154
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.

Markers in Region
RH11492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,138,763 - 7,138,901UniSTSGRCh37
Build 36177,079,487 - 7,079,625RGDNCBI36
Celera177,163,412 - 7,163,550RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,030,558 - 7,030,696UniSTS
GeneMap99-GB4 RH Map1745.52UniSTS
NCBI RH Map1796.2UniSTS
SHGC-35547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,128,429 - 7,128,581UniSTSGRCh37
Build 36177,069,153 - 7,069,305RGDNCBI36
Celera177,153,063 - 7,153,215RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,020,419 - 7,020,571UniSTS
Stanford-G3 RH Map17433.0UniSTS
GeneMap99-GB4 RH Map1753.5UniSTS
Whitehead-RH Map1777.9UniSTS
NCBI RH Map17186.2UniSTS
GeneMap99-G3 RH Map17433.0UniSTS
ACADVL_2963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,128,193 - 7,128,732UniSTSGRCh37
Build 36177,068,917 - 7,069,456RGDNCBI36
Celera177,152,827 - 7,153,366RGD
HuRef177,020,183 - 7,020,722UniSTS
DVL2__3968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,128,712 - 7,129,543UniSTSGRCh37
Build 36177,069,436 - 7,070,267RGDNCBI36
Celera177,153,346 - 7,154,177RGD
HuRef177,020,702 - 7,021,533UniSTS


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 2352 1850 1358 267 1339 111 3989 1441 2716 304 1425 1592 170 1180 2424 3
Low 84 1138 367 356 610 354 367 754 1016 115 30 19 3 1 24 364 2 1
Below cutoff 1 1 1 2 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC120057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF006012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG716400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB994349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000005340   ⟹   ENSP00000005340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,225,342 - 7,234,517 (-)Ensembl
RefSeq Acc Id: ENST00000571745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,227,149 - 7,227,827 (-)Ensembl
RefSeq Acc Id: ENST00000572285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,229,287 - 7,234,223 (-)Ensembl
RefSeq Acc Id: ENST00000573354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,227,863 - 7,229,267 (-)Ensembl
RefSeq Acc Id: ENST00000574143   ⟹   ENSP00000458209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,228,007 - 7,234,061 (-)Ensembl
RefSeq Acc Id: ENST00000574591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,228,600 - 7,229,406 (-)Ensembl
RefSeq Acc Id: ENST00000574642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,229,153 - 7,230,391 (-)Ensembl
RefSeq Acc Id: ENST00000575086   ⟹   ENSP00000458465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,226,137 - 7,229,035 (-)Ensembl
RefSeq Acc Id: ENST00000575458   ⟹   ENSP00000459797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,225,455 - 7,234,318 (-)Ensembl
RefSeq Acc Id: ENST00000575756   ⟹   ENSP00000459991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,227,977 - 7,234,308 (-)Ensembl
RefSeq Acc Id: ENST00000576285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,227,238 - 7,228,384 (-)Ensembl
RefSeq Acc Id: ENST00000576439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,229,544 - 7,230,779 (-)Ensembl
RefSeq Acc Id: ENST00000576840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,226,656 - 7,228,042 (-)Ensembl
RefSeq Acc Id: ENST00000576949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,230,123 - 7,234,517 (-)Ensembl
RefSeq Acc Id: ENST00000577154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,228,762 - 7,229,391 (-)Ensembl
RefSeq Acc Id: NM_004422   ⟹   NP_004413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,225,342 - 7,234,517 (-)NCBI
GRCh37177,128,661 - 7,137,867 (-)NCBI
Build 36177,069,385 - 7,078,587 (-)NCBI Archive
HuRef177,020,651 - 7,029,658 (-)ENTREZGENE
CHM1_1177,137,409 - 7,146,611 (-)NCBI
T2T-CHM13v2.0177,126,253 - 7,135,444 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005256502   ⟹   XP_005256559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,225,342 - 7,234,517 (-)NCBI
GRCh37177,128,661 - 7,137,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047435518   ⟹   XP_047291474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,225,342 - 7,231,194 (-)NCBI
RefSeq Acc Id: XM_047435519   ⟹   XP_047291475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,226,887 - 7,234,517 (-)NCBI
RefSeq Acc Id: XM_047435520   ⟹   XP_047291476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,226,887 - 7,234,517 (-)NCBI
RefSeq Acc Id: XM_047435522   ⟹   XP_047291478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,225,342 - 7,229,618 (-)NCBI
RefSeq Acc Id: XM_054315308   ⟹   XP_054171283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,126,253 - 7,135,444 (-)NCBI
RefSeq Acc Id: XM_054315309   ⟹   XP_054171284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,126,253 - 7,132,105 (-)NCBI
RefSeq Acc Id: XM_054315310   ⟹   XP_054171285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,127,798 - 7,135,444 (-)NCBI
RefSeq Acc Id: XM_054315311   ⟹   XP_054171286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,127,798 - 7,135,444 (-)NCBI
RefSeq Acc Id: XM_054315312   ⟹   XP_054171287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,126,253 - 7,130,529 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_004413   ⟸   NM_004422
- UniProtKB: D3DTN3 (UniProtKB/Swiss-Prot),   Q53XM0 (UniProtKB/Swiss-Prot),   O14641 (UniProtKB/Swiss-Prot),   I3L2N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005256559   ⟸   XM_005256502
- Peptide Label: isoform X1
- UniProtKB: I3L2N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000005340   ⟸   ENST00000005340
RefSeq Acc Id: ENSP00000458209   ⟸   ENST00000574143
RefSeq Acc Id: ENSP00000458465   ⟸   ENST00000575086
RefSeq Acc Id: ENSP00000459797   ⟸   ENST00000575458
RefSeq Acc Id: ENSP00000459991   ⟸   ENST00000575756
RefSeq Acc Id: XP_047291474   ⟸   XM_047435518
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047291478   ⟸   XM_047435522
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047291476   ⟸   XM_047435520
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047291475   ⟸   XM_047435519
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054171283   ⟸   XM_054315308
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054171284   ⟸   XM_054315309
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054171287   ⟸   XM_054315312
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054171286   ⟸   XM_054315311
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054171285   ⟸   XM_054315310
- Peptide Label: isoform X3
Protein Domains
DEP   DIX   PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14641-F1-model_v2 AlphaFold O14641 1-736 view protein structure

Promoters
RGD ID:6793967
Promoter ID:HG_KWN:24854
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000219999,   UC010CLZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,078,324 - 7,078,824 (-)MPROMDB
RGD ID:7233649
Promoter ID:EPDNEW_H22570
Type:initiation region
Name:DVL2_2
Description:dishevelled segment polarity protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22571  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,234,282 - 7,234,342EPDNEW
RGD ID:7233651
Promoter ID:EPDNEW_H22571
Type:initiation region
Name:DVL2_1
Description:dishevelled segment polarity protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,234,517 - 7,234,577EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3086 AgrOrtholog
COSMIC DVL2 COSMIC
Ensembl Genes ENSG00000004975 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000005340 ENTREZGENE
  ENST00000005340.10 UniProtKB/Swiss-Prot
  ENST00000574143.1 UniProtKB/TrEMBL
  ENST00000575086.1 UniProtKB/TrEMBL
  ENST00000575458.5 UniProtKB/TrEMBL
  ENST00000575756.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.240.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000004975 GTEx
HGNC ID HGNC:3086 ENTREZGENE
Human Proteome Map DVL2 Human Proteome Map
InterPro DEP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dishevelled_C-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dishevelled_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dishevelled_protein_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dsh/Dvl-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DVL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1856 UniProtKB/Swiss-Prot
NCBI Gene 1856 ENTREZGENE
OMIM 602151 OMIM
PANTHER PTHR10878 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10878:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dishevelled UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dsh_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27542 PharmGKB
PRINTS DISHEVELLED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISHEVELLED2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DAX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DTN3 ENTREZGENE
  DVL2_HUMAN UniProtKB/Swiss-Prot
  I3L0M7_HUMAN UniProtKB/TrEMBL
  I3L0Z8_HUMAN UniProtKB/TrEMBL
  I3L2N2 ENTREZGENE, UniProtKB/TrEMBL
  I3L2W9_HUMAN UniProtKB/TrEMBL
  O14641 ENTREZGENE
  Q53XM0 ENTREZGENE
UniProt Secondary D3DTN3 UniProtKB/Swiss-Prot
  Q53XM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-04 DVL2  dishevelled segment polarity protein 2  DVL2  dishevelled, dsh homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED