NKD2 (NKD inhibitor of WNT signaling pathway 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NKD2 (NKD inhibitor of WNT signaling pathway 2) Homo sapiens
Analyze
Symbol: NKD2
Name: NKD inhibitor of WNT signaling pathway 2
RGD ID: 1322930
HGNC Page HGNC
Description: Exhibits enzyme binding activity; growth factor binding activity; and myosin heavy chain binding activity. Involved in several processes, including Golgi vesicle fusion to target membrane; positive regulation of protein localization to plasma membrane; and positive regulation of proteolysis. Localizes to basolateral plasma membrane; exocytic vesicle; and lateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Dvl-binding protein NKD2; hNkd2; naked cuticle homolog 2; naked cuticle homolog 2 (Drosophila); naked cuticle-2; naked-2; Naked2; NKD2, WNT signaling pathway inhibitor; protein naked cuticle homolog 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
GRCh38.p13 Ensembl51,008,802 - 1,038,943 (+)EnsemblGRCh38hg38GRCh38
GRCh3851,008,802 - 1,038,943 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3751,008,917 - 1,039,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,062,168 - 1,091,925 (+)NCBINCBI36hg18NCBI36
Build 3451,062,167 - 1,091,925NCBI
Celera51,048,097 - 1,076,601 (+)NCBI
Cytogenetic Map5p15.33NCBI
HuRef5993,646 - 1,021,595 (+)NCBIHuRef
CHM1_151,008,923 - 1,038,814 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10737800   PMID:11356022   PMID:11604995   PMID:12477932   PMID:15064403   PMID:15687260   PMID:16752383   PMID:17045239   PMID:17362910   PMID:17553928   PMID:17764565   PMID:18504258  
PMID:18757723   PMID:19847810   PMID:20177058   PMID:20828404   PMID:21873635   PMID:21988832   PMID:22087225   PMID:24952745   PMID:25086665   PMID:26124080   PMID:26186194   PMID:26396173  
PMID:26902120   PMID:26985708   PMID:27246976   PMID:27374455   PMID:27424978   PMID:27503909   PMID:28514442   PMID:29126834   PMID:29180619   PMID:29678899   PMID:30941853  


Genomics

Comparative Map Data
NKD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl51,008,802 - 1,038,943 (+)EnsemblGRCh38hg38GRCh38
GRCh3851,008,802 - 1,038,943 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3751,008,917 - 1,039,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,062,168 - 1,091,925 (+)NCBINCBI36hg18NCBI36
Build 3451,062,167 - 1,091,925NCBI
Celera51,048,097 - 1,076,601 (+)NCBI
Cytogenetic Map5p15.33NCBI
HuRef5993,646 - 1,021,595 (+)NCBIHuRef
CHM1_151,008,923 - 1,038,814 (+)NCBICHM1_1
Nkd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391373,966,653 - 73,995,750 (-)NCBIGRCm39mm39
GRCm39 Ensembl1373,966,653 - 73,995,750 (-)Ensembl
GRCm381373,818,534 - 73,847,631 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1373,818,534 - 73,847,631 (-)EnsemblGRCm38mm10GRCm38
MGSCv371373,956,776 - 73,985,079 (-)NCBIGRCm37mm9NCBIm37
MGSCv361374,286,135 - 74,313,614 (-)NCBImm8
Celera1376,148,658 - 76,177,277 (-)NCBICelera
Cytogenetic Map13C1NCBI
Nkd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2129,442,898 - 29,470,839 (+)NCBI
Rnor_6.0 Ensembl132,058,044 - 32,084,877 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0132,054,390 - 32,085,416 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0133,482,721 - 33,509,561 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4130,252,093 - 30,278,933 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1130,252,483 - 30,285,229 (+)NCBI
Celera128,092,060 - 28,118,895 (+)NCBICelera
Cytogenetic Map1p11NCBI
Nkd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955504507,388 - 526,407 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955504507,253 - 527,275 (+)NCBIChiLan1.0ChiLan1.0
NKD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.151,075,172 - 1,081,628 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl51,075,172 - 1,081,664 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v051,285,217 - 1,311,285 (+)NCBIMhudiblu_PPA_v0panPan3
NKD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13411,447,895 - 11,468,067 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3411,447,888 - 11,459,509 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3415,958,994 - 15,981,992 (-)NCBI
ROS_Cfam_1.03411,349,830 - 11,372,779 (-)NCBI
UMICH_Zoey_3.13411,400,450 - 11,423,411 (-)NCBI
UNSW_CanFamBas_1.03411,380,128 - 11,403,128 (-)NCBI
UU_Cfam_GSD_1.03411,591,064 - 11,614,045 (-)NCBI
Nkd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213244,508,104 - 244,540,117 (-)NCBI
SpeTri2.0NW_004936815669,389 - 701,402 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NKD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11679,400,323 - 79,419,779 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NKD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.14857,938 - 884,840 (+)NCBI
ChlSab1.1 Ensembl4858,809 - 884,758 (+)Ensembl
Vero_WHO_p1.0NW_02366605435,414,495 - 35,441,704 (+)NCBI
Nkd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624751495,561 - 507,756 (+)NCBI

Position Markers
RH98721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3751,038,543 - 1,038,736UniSTSGRCh37
Build 3651,091,543 - 1,091,736RGDNCBI36
Celera51,076,219 - 1,076,412RGD
Cytogenetic Map5p15.3UniSTS
HuRef51,021,211 - 1,021,404UniSTS
GeneMap99-GB4 RH Map514.04UniSTS
D10S18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3751,014,206 - 1,014,311UniSTSGRCh37
Build 3651,067,206 - 1,067,311RGDNCBI36
Celera51,053,135 - 1,053,240RGD
Cytogenetic Map5p15.3UniSTS
HuRef5998,559 - 998,664UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2342
Count of miRNA genes:780
Interacting mature miRNAs:938
Transcripts:ENST00000274150, ENST00000296849, ENST00000382730, ENST00000513296, ENST00000519933, ENST00000523688, ENST00000537972
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 443 107 206 84 312 34 999 146 87 64 654 773 51 161 489 2
Low 1975 1491 1433 482 565 372 1919 1316 3321 300 674 772 119 1 846 1099 4 1
Below cutoff 14 1167 75 51 706 52 1389 711 306 47 115 48 3 197 1168

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000274150   ⟹   ENSP00000274150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,008,962 - 1,038,682 (+)Ensembl
RefSeq Acc Id: ENST00000296849   ⟹   ENSP00000296849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,008,802 - 1,038,943 (+)Ensembl
RefSeq Acc Id: ENST00000513296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,035,805 - 1,038,284 (+)Ensembl
RefSeq Acc Id: ENST00000519933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,034,136 - 1,036,172 (+)Ensembl
RefSeq Acc Id: ENST00000523688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,034,756 - 1,038,315 (+)Ensembl
RefSeq Acc Id: NM_001271082   ⟹   NP_001258011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,008,802 - 1,038,943 (+)NCBI
GRCh3751,008,941 - 1,038,927 (+)NCBI
HuRef5993,646 - 1,021,595 (+)NCBI
CHM1_151,008,923 - 1,038,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033120   ⟹   NP_149111
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,008,802 - 1,038,943 (+)NCBI
GRCh3751,008,941 - 1,038,927 (+)NCBI
Build 3651,062,168 - 1,091,925 (+)NCBI Archive
Celera51,048,097 - 1,076,601 (+)RGD
HuRef5993,646 - 1,021,595 (+)NCBI
CHM1_151,008,923 - 1,038,814 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248382   ⟹   XP_005248439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,008,845 - 1,038,723 (+)NCBI
GRCh3751,008,941 - 1,038,927 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248383   ⟹   XP_005248440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,008,845 - 1,037,889 (+)NCBI
GRCh3751,008,941 - 1,038,927 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514150   ⟹   XP_011512452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,008,845 - 1,037,889 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010000   ⟹   XP_016865489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,033,506 - 1,038,723 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_149111   ⟸   NM_033120
- Peptide Label: isoform 1
- UniProtKB: Q969F2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258011   ⟸   NM_001271082
- Peptide Label: isoform 2
- UniProtKB: Q969F2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248439   ⟸   XM_005248382
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005248440   ⟸   XM_005248383
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512452   ⟸   XM_011514150
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016865489   ⟸   XM_017010000
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000296849   ⟸   ENST00000296849
RefSeq Acc Id: ENSP00000274150   ⟸   ENST00000274150
Protein Domains
EF-hand

Promoters
RGD ID:6869162
Promoter ID:EPDNEW_H7746
Type:multiple initiation site
Name:NKD2_1
Description:naked cuticle homolog 2
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
GRCh3851,008,802 - 1,008,862EPDNEW
RGD ID:6803398
Promoter ID:HG_KWN:49709
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000206720,   UC010ITF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3651,061,661 - 1,062,161 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 copy number loss See cases [RCV000050885] Chr5:22149..3404244 [GRCh38]
Chr5:22149..3404358 [GRCh37]
Chr5:75149..3457358 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 copy number loss See cases [RCV000050655] Chr5:22149..1826256 [GRCh38]
Chr5:22149..1826370 [GRCh37]
Chr5:75149..1879370 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 copy number loss See cases [RCV000051100] Chr5:49978..4014647 [GRCh38]
Chr5:50093..4014761 [GRCh37]
Chr5:103093..4067761 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 copy number gain See cases [RCV000051808] Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 copy number gain See cases [RCV000051809] Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 copy number loss See cases [RCV000053397] Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 copy number loss See cases [RCV000053400] Chr5:22149..3556942 [GRCh38]
Chr5:22149..3557056 [GRCh37]
Chr5:75149..3610056 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 copy number loss See cases [RCV000053416] Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] Chr5:22149..4580491 [GRCh38]
Chr5:22149..4580604 [GRCh37]
Chr5:75149..4633604 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 copy number loss See cases [RCV000053420] Chr5:37694..2746908 [GRCh38]
Chr5:37692..2747022 [GRCh37]
Chr5:90692..2800022 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 copy number loss See cases [RCV000053421] Chr5:37694..2913205 [GRCh38]
Chr5:37692..2913319 [GRCh37]
Chr5:90692..2966319 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 copy number loss See cases [RCV000053423] Chr5:49778..4768868 [GRCh38]
Chr5:49893..4768981 [GRCh37]
Chr5:102893..4821981 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 copy number loss See cases [RCV000053444] Chr5:54839..5603401 [GRCh38]
Chr5:54954..5603514 [GRCh37]
Chr5:107954..5656514 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
NM_033120.3(NKD2):c.154G>A (p.Gly52Arg) single nucleotide variant Malignant melanoma [RCV000066593] Chr5:1032164 [GRCh38]
Chr5:1032279 [GRCh37]
Chr5:1085279 [NCBI36]
Chr5:5p15.33
not provided
NM_001271082.1(NKD2):c.141+6509G>C single nucleotide variant Lung cancer [RCV000095134] Chr5:1016069 [GRCh38]
Chr5:1016184 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 copy number gain See cases [RCV000135393] Chr5:22149..1278576 [GRCh38]
Chr5:22149..1278691 [GRCh37]
Chr5:75149..1331691 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:924086-1544344)x3 copy number gain See cases [RCV000135933] Chr5:924086..1544344 [GRCh38]
Chr5:924201..1544459 [GRCh37]
Chr5:977201..1597459 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 copy number loss See cases [RCV000136900] Chr5:22149..1429599 [GRCh38]
Chr5:22149..1429714 [GRCh37]
Chr5:75149..1482714 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 copy number loss See cases [RCV000138215] Chr5:22149..6060102 [GRCh38]
Chr5:22149..6060215 [GRCh37]
Chr5:75149..6113215 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 copy number loss See cases [RCV000137942] Chr5:22149..4260151 [GRCh38]
Chr5:22149..4260264 [GRCh37]
Chr5:75149..4313264 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33(chr5:821764-1271935)x3 copy number gain See cases [RCV000137788] Chr5:821764..1271935 [GRCh38]
Chr5:821879..1272050 [GRCh37]
Chr5:874879..1325050 [NCBI36]
Chr5:5p15.33
likely benign
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1
likely benign
GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 copy number gain See cases [RCV000139303] Chr5:22149..2323943 [GRCh38]
Chr5:22149..2324057 [GRCh37]
Chr5:75149..2377057 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:981420-1021566)x1 copy number loss See cases [RCV000140354] Chr5:981420..1021566 [GRCh38]
Chr5:981535..1021681 [GRCh37]
Chr5:1034535..1074681 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:22149-3619159) copy number gain See cases [RCV000139908] Chr5:22149..3619159 [GRCh38]
Chr5:22149..3619273 [GRCh37]
Chr5:75149..3672273 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33(chr5:965217-1528677)x3 copy number gain See cases [RCV000139630] Chr5:965217..1528677 [GRCh38]
Chr5:965332..1528792 [GRCh37]
Chr5:1018332..1581792 [NCBI36]
Chr5:5p15.33
likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 copy number loss See cases [RCV000141244] Chr5:22149..4833626 [GRCh38]
Chr5:22149..4833739 [GRCh37]
Chr5:75149..4886739 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 copy number loss See cases [RCV000141930] Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 copy number loss See cases [RCV000141898] Chr5:113461..6243977 [GRCh38]
Chr5:113576..6244090 [GRCh37]
Chr5:166576..6297090 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 copy number loss See cases [RCV000143018] Chr5:22149..5059896 [GRCh38]
Chr5:22149..5060009 [GRCh37]
Chr5:75149..5113009 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 copy number loss See cases [RCV000142697] Chr5:95128..5834551 [GRCh38]
Chr5:95243..5834664 [GRCh37]
Chr5:148243..5887664 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 copy number gain See cases [RCV000142646] Chr5:22149..1659135 [GRCh38]
Chr5:22149..1659250 [GRCh37]
Chr5:75149..1712250 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 copy number loss See cases [RCV000143332] Chr5:22149..5102586 [GRCh38]
Chr5:22149..5102699 [GRCh37]
Chr5:75149..5155699 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33(chr5:890085-1079592)x3 copy number gain See cases [RCV000449298] Chr5:890085..1079592 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 copy number loss See cases [RCV000447679] Chr5:22149..6112711 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 copy number loss See cases [RCV000447483] Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 copy number loss See cases [RCV000446677] Chr5:22149..4641409 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 copy number loss See cases [RCV000446523] Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 copy number loss See cases [RCV000446665] Chr5:22149..2965987 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 copy number loss See cases [RCV000448543] Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 copy number loss See cases [RCV000447780] Chr5:22149..4163847 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 copy number gain See cases [RCV000447969] Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 copy number loss See cases [RCV000511494] Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 copy number loss See cases [RCV000511088] Chr5:113576..5380741 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 copy number loss See cases [RCV000512452] Chr5:113576..4175855 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 copy number loss not provided [RCV000682511] Chr5:113576..5884399 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 copy number loss not provided [RCV000682512] Chr5:113576..6125331 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 copy number loss not provided [RCV000682513] Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 copy number loss not provided [RCV000682510] Chr5:113576..1816055 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 copy number loss not provided [RCV000682509] Chr5:113576..1708530 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:403929-1065399)x3 copy number gain not provided [RCV000744339] Chr5:403929..1065399 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 copy number loss not provided [RCV000762763] Chr5:52186..4163906 [GRCh37]
Chr5:5p15.33
likely pathogenic
NC_000005.10:g.(?_218346)_(1295046_?)del deletion Idiopathic Pulmonary Fibrosis [RCV001031825] Chr5:218461..1295161 [GRCh37]
Chr5:5p15.33
pathogenic
NM_033120.4(NKD2):c.943C>T (p.Arg315Trp) single nucleotide variant not provided [RCV000964411] Chr5:1037960 [GRCh38]
Chr5:1038075 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 copy number loss not provided [RCV001005641] Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 copy number loss not provided [RCV001005646] Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
NM_033120.4(NKD2):c.590G>A (p.Arg197His) single nucleotide variant not provided [RCV000958938] Chr5:1035404 [GRCh38]
Chr5:1035519 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33(chr5:944046-1541755)x3 copy number gain not provided [RCV001005647] Chr5:944046..1541755 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 copy number loss not provided [RCV001005645] Chr5:113576..5657333 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
NC_000005.10:g.(?_218349)_(1297373_?)del deletion Idiopathic Pulmonary Fibrosis [RCV001032442] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33
pathogenic
NM_033120.4(NKD2):c.431T>A (p.Met144Lys) single nucleotide variant not provided [RCV000962878] Chr5:1034760 [GRCh38]
Chr5:1034875 [GRCh37]
Chr5:5p15.33
benign
NM_033120.4(NKD2):c.770C>A (p.Thr257Lys) single nucleotide variant not provided [RCV000882640] Chr5:1036367 [GRCh38]
Chr5:1036482 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 copy number loss not provided [RCV001005640] Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33
likely pathogenic
GRCh37/hg19 5p15.33(chr5:953886-1210188)x3 copy number gain not provided [RCV001005648] Chr5:953886..1210188 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2
pathogenic
NC_000005.10:g.(?_218349)_(1297373_?)dup duplication Idiopathic Pulmonary Fibrosis [RCV001031280] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NC_000005.9:g.775423_1189139dup duplication not provided [RCV001263317] Chr5:775423..1189139 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:499883-1309062)x3 copy number gain not provided [RCV001258845] Chr5:499883..1309062 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 copy number loss not provided [RCV001258846] Chr5:113576..4305172 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33(chr5:481399-1021206)x3 copy number gain not provided [RCV001258847] Chr5:481399..1021206 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:875401-1310234)x3 copy number gain not provided [RCV001258848] Chr5:875401..1310234 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-1286005)x1 copy number loss not provided [RCV001258849] Chr5:113576..1286005 [GRCh37]
Chr5:5p15.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17046 AgrOrtholog
COSMIC NKD2 COSMIC
Ensembl Genes ENSG00000145506 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276920 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000274150 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000296849 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479003 UniProtKB/Swiss-Prot
  ENSP00000482896 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274150 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000296849 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000610777 UniProtKB/Swiss-Prot
  ENST00000616539 UniProtKB/Swiss-Prot
GTEx ENSG00000145506 GTEx
  ENSG00000276920 GTEx
HGNC ID HGNC:17046 ENTREZGENE
Human Proteome Map NKD2 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  Nkd-like UniProtKB/Swiss-Prot
KEGG Report hsa:85409 UniProtKB/Swiss-Prot
NCBI Gene 85409 ENTREZGENE
OMIM 607852 OMIM
PANTHER PTHR22611 UniProtKB/Swiss-Prot
PharmGKB PA31638 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
UniProt NKD2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96EK8 UniProtKB/Swiss-Prot
  Q9BSN0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 NKD2  NKD inhibitor of WNT signaling pathway 2    NKD2, WNT signaling pathway inhibitor  Symbol and/or name change 5135510 APPROVED
2018-11-29 NKD2  NKD2, WNT signaling pathway inhibitor    naked cuticle homolog 2  Symbol and/or name change 5135510 APPROVED
2016-04-12 NKD2  naked cuticle homolog 2    naked cuticle homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED