USP17L2 (ubiquitin specific peptidase 17 like family member 2 (gene/pseudogene)) - Rat Genome Database

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Gene: USP17L2 (ubiquitin specific peptidase 17 like family member 2 (gene/pseudogene)) Homo sapiens
Analyze
Symbol: USP17L2
Name: ubiquitin specific peptidase 17 like family member 2 (gene/pseudogene) (Ensembl:ubiquitin specific peptidase 17 like family member 2)
RGD ID: 1605214
HGNC Page HGNC:34434
Description: Enables cysteine-type deubiquitinase activity. Involved in several processes, including CAAX-box protein processing; protein deubiquitination; and regulation of defense response. Located in endoplasmic reticulum membrane and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: deubiquitinating enzyme 17-like protein 2; deubiquitinating enzyme 3; deubiquitinating protein 3; DUB-3; DUB3; ubiquitin carboxyl-terminal hydrolase 17; ubiquitin carboxyl-terminal hydrolase 17-like protein 2; ubiquitin specific peptidase 17 like family member 2; ubiquitin specific peptidase 17-like 2; ubiquitin specific peptidase 17-like family member 2; ubiquitin thioesterase 17-like protein 2; ubiquitin thiolesterase 17-like protein 2; ubiquitin-specific-processing protease 17-like protein 2; USP17
RGD Orthologs
Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC087203.1   AC130366.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: suggests misassembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38812,136,435 - 12,138,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl812,136,435 - 12,138,849 (-)EnsemblGRCh38hg38GRCh38
GRCh37811,993,944 - 11,996,358 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36812,032,086 - 12,033,678 (-)NCBINCBI36Build 36hg18NCBI36
Celera811,194,744 - 11,196,336 (+)NCBICelera
Cytogenetic Map8p23.1NCBI
CHM1_1812,060,015 - 12,061,607 (-)NCBICHM1_1
T2T-CHM13v2.087,595,654 - 7,598,068 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9806828   PMID:10936051   PMID:11941478   PMID:14699124   PMID:15780755   PMID:16611142   PMID:17109758   PMID:19188362   PMID:19615732   PMID:19718026   PMID:20147298   PMID:20228807  
PMID:20228808   PMID:20368735   PMID:20388806   PMID:20403174   PMID:20715989   PMID:21239494   PMID:21448158   PMID:21873635   PMID:23773437   PMID:24610907   PMID:24704006   PMID:25776484  
PMID:26610488   PMID:26617781   PMID:28061504   PMID:28067227   PMID:28198361   PMID:28288134   PMID:29088851   PMID:30038267   PMID:30057199   PMID:30323974   PMID:30628680   PMID:30718431  
PMID:30778200   PMID:30854565   PMID:30935108   PMID:31533987   PMID:33194625   PMID:33669244   PMID:34129829   PMID:34758305   PMID:35383144   PMID:35506169   PMID:35927236   PMID:36040642  
PMID:36535926   PMID:36882524   PMID:37314216   PMID:37652526  


Genomics

Comparative Map Data
USP17L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38812,136,435 - 12,138,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl812,136,435 - 12,138,849 (-)EnsemblGRCh38hg38GRCh38
GRCh37811,993,944 - 11,996,358 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36812,032,086 - 12,033,678 (-)NCBINCBI36Build 36hg18NCBI36
Celera811,194,744 - 11,196,336 (+)NCBICelera
Cytogenetic Map8p23.1NCBI
CHM1_1812,060,015 - 12,061,607 (-)NCBICHM1_1
T2T-CHM13v2.087,595,654 - 7,598,068 (+)NCBIT2T-CHM13v2.0
Usp17la2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81168,563,281 - 168,567,056 (+)NCBIGRCr8
mRatBN7.21159,151,417 - 159,155,192 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1159,151,432 - 159,155,192 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01169,720,247 - 169,721,788 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1169,720,253 - 169,721,758 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01175,856,225 - 175,857,588 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1156,977,121 - 156,978,662 (-)NCBICelera
Cytogenetic Map1q32NCBI

Variants

.
Variants in USP17L2
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1 copy number loss See cases [RCV000050658] Chr8:8222339..12383643 [GRCh38]
Chr8:8079861..12241152 [GRCh37]
Chr8:8117271..12285523 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3 copy number gain See cases [RCV000051192] Chr8:7411297..12182465 [GRCh38]
Chr8:7268819..12039974 [GRCh37]
Chr8:7256229..12077383 [NCBI36]
Chr8:8p23.1
pathogenic|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1 copy number loss See cases [RCV000053154] Chr8:7195664..12383643 [GRCh38]
Chr8:7053186..12241152 [GRCh37]
Chr8:7040596..12285523 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 copy number loss See cases [RCV000053165] Chr8:7234837..12514815 [GRCh38]
Chr8:7092359..12372324 [GRCh37]
Chr8:7079769..12416695 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1 copy number loss See cases [RCV000053166] Chr8:7411097..12610175 [GRCh38]
Chr8:7268619..12467684 [GRCh37]
Chr8:7256029..12512055 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|See cases [RCV000053168] Chr8:7411297..12546553 [GRCh38]
Chr8:7268819..12404062 [GRCh37]
Chr8:7256229..12448433 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh37/hg19 8p23.1(chr8:8079861-12039974)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169] Chr8:8079861..12039974 [GRCh37]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3 copy number gain See cases [RCV000053482] Chr8:8222139..12383784 [GRCh38]
Chr8:8079661..12241293 [GRCh37]
Chr8:8117071..12285664 [NCBI36]
Chr8:8p23.1
pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8272908-12182621)x3 copy number gain See cases [RCV000053483] Chr8:8272908..12182621 [GRCh38]
Chr8:8130430..12040130 [GRCh37]
Chr8:8167840..12077539 [NCBI36]
Chr8:8p23.1
pathogenic|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_201402.2(USP17L2):c.1205G>A (p.Arg402Gln) single nucleotide variant Malignant melanoma [RCV000068121] Chr8:12137556 [GRCh38]
Chr8:11995065 [GRCh37]
Chr8:12032474 [NCBI36]
Chr8:8p23.1
not provided
NM_201402.2(USP17L2):c.195G>A (p.Arg65=) single nucleotide variant Malignant melanoma [RCV000068122] Chr8:12138566 [GRCh38]
Chr8:11996075 [GRCh37]
Chr8:12033484 [NCBI36]
Chr8:8p23.1
not provided
NM_201402.2(USP17L2):c.475G>A (p.Glu159Lys) single nucleotide variant Malignant melanoma [RCV000061738] Chr8:12138286 [GRCh38]
Chr8:11995795 [GRCh37]
Chr8:12033204 [NCBI36]
Chr8:8p23.1
not provided
NM_201402.2(USP17L2):c.283C>T (p.Leu95=) single nucleotide variant Malignant melanoma [RCV000061739] Chr8:12138478 [GRCh38]
Chr8:11995987 [GRCh37]
Chr8:12033396 [NCBI36]
Chr8:8p23.1
not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1 copy number loss See cases [RCV000053169] Chr8:8222339..12182465 [GRCh38]
Chr8:8079861..12039974 [GRCh37]
Chr8:8117271..12077383 [NCBI36]
Chr8:8p23.1
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:11901356-12610034)x1 copy number loss See cases [RCV000133706] Chr8:11901356..12610034 [GRCh38]
Chr8:11758865..12467543 [GRCh37]
Chr8:11796274..12511914 [NCBI36]
Chr8:8p23.1
benign
GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3 copy number gain See cases [RCV000134177] Chr8:7834379..12182465 [GRCh38]
Chr8:7691901..12039974 [GRCh37]
Chr8:7729311..12077383 [NCBI36]
Chr8:8p23.1
pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3 copy number gain See cases [RCV000134923] Chr8:8273108..12546553 [GRCh38]
Chr8:8130630..12404062 [GRCh37]
Chr8:8168040..12448433 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1 copy number loss See cases [RCV000135775] Chr8:8273108..12383643 [GRCh38]
Chr8:8130630..12241152 [GRCh37]
Chr8:8168040..12285523 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3 copy number gain See cases [RCV000136522] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1 copy number loss See cases [RCV000136523] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1 copy number loss See cases [RCV000137505] Chr8:8253505..12610034 [GRCh38]
Chr8:8111027..12467543 [GRCh37]
Chr8:8148437..12511914 [NCBI36]
Chr8:8p23.1
pathogenic|likely benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1(chr8:12095338-12585258)x3 copy number gain See cases [RCV000138770] Chr8:12095338..12585258 [GRCh38]
Chr8:11952847..12442767 [GRCh37]
Chr8:11990256..12487138 [NCBI36]
Chr8:8p23.1
benign
GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3 copy number gain See cases [RCV000138529] Chr8:7103661..12299882 [GRCh38]
Chr8:6961183..12157391 [GRCh37]
Chr8:6948593..12201760 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1(chr8:12127758-12182469)x3 copy number gain See cases [RCV000139684] Chr8:12127758..12182469 [GRCh38]
Chr8:11985267..12039978 [GRCh37]
Chr8:12022676..12077387 [NCBI36]
Chr8:8p23.1
likely benign
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1(chr8:11948252-12546557)x3 copy number gain See cases [RCV000143056] Chr8:11948252..12546557 [GRCh38]
Chr8:11805761..12404066 [GRCh37]
Chr8:11843170..12448437 [NCBI36]
Chr8:8p23.1
benign
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1 copy number loss See cases [RCV000142710] Chr8:8273108..12610034 [GRCh38]
Chr8:8130630..12467543 [GRCh37]
Chr8:8168040..12511914 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1 copy number loss See cases [RCV000148286] Chr8:8222339..12182465 [GRCh38]
Chr8:8079861..12039974 [GRCh37]
Chr8:8117271..12077383 [NCBI36]
Chr8:8p23.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1 copy number loss Premature ovarian failure [RCV000225350] Chr8:8131816..12249050 [GRCh37]
Chr8:8p23.1
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 copy number gain See cases [RCV000448692] Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22
likely pathogenic
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1(chr8:11928524-12534362)x3 copy number gain not provided [RCV000747401] Chr8:11928524..12534362 [GRCh37]
Chr8:8p23.1
benign
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22
pathogenic
NM_201402.3(USP17L2):c.786G>A (p.Pro262=) single nucleotide variant not provided [RCV000947097] Chr8:12137975 [GRCh38]
Chr8:11995484 [GRCh37]
Chr8:8p23.1
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1 copy number loss not provided [RCV002472610] Chr8:8093066..12548732 [GRCh37]
Chr8:8p23.1
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3 copy number gain 8p23.1 duplication syndrome [RCV003329529] Chr8:7080281..12045269 [GRCh37]
Chr8:8p23.1
pathogenic
GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3 copy number gain not provided [RCV003484718] Chr8:8093169..14526969 [GRCh37]
Chr8:8p23.1-22
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
NM_201402.3(USP17L2):c.1087C>T (p.Leu363=) single nucleotide variant not provided [RCV003436751] Chr8:12137674 [GRCh38]
Chr8:11995183 [GRCh37]
Chr8:8p23.1
likely benign
NM_201402.3(USP17L2):c.863G>A (p.Gly288Asp) single nucleotide variant not provided [RCV003436753] Chr8:12137898 [GRCh38]
Chr8:11995407 [GRCh37]
Chr8:8p23.1
likely benign
NM_201402.3(USP17L2):c.291C>T (p.Cys97=) single nucleotide variant not provided [RCV003436755] Chr8:12138470 [GRCh38]
Chr8:11995979 [GRCh37]
Chr8:8p23.1
likely benign
NM_201402.3(USP17L2):c.466G>T (p.Gly156Cys) single nucleotide variant not provided [RCV003436754] Chr8:12138295 [GRCh38]
Chr8:11995804 [GRCh37]
Chr8:8p23.1
likely benign
NM_201402.3(USP17L2):c.18C>G (p.Leu6=) single nucleotide variant not provided [RCV003436757] Chr8:12138743 [GRCh38]
Chr8:11996252 [GRCh37]
Chr8:8p23.1
likely benign
NM_201402.3(USP17L2):c.1498G>A (p.Val500Met) single nucleotide variant not provided [RCV003436750] Chr8:12137263 [GRCh38]
Chr8:11994772 [GRCh37]
Chr8:8p23.1
likely benign
NM_201402.3(USP17L2):c.148G>A (p.Asp50Asn) single nucleotide variant not provided [RCV003436756] Chr8:12138613 [GRCh38]
Chr8:11996122 [GRCh37]
Chr8:8p23.1
likely benign
NM_201402.3(USP17L2):c.887A>T (p.Gln296Leu) single nucleotide variant not provided [RCV003436752] Chr8:12137874 [GRCh38]
Chr8:11995383 [GRCh37]
Chr8:8p23.1
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3 copy number gain See cases [RCV004442825] Chr8:158049..16225393 [GRCh37]
Chr8:8p23.3-22
pathogenic
NM_201402.3(USP17L2):c.535G>A (p.Gly179Ser) single nucleotide variant not provided [RCV003886278] Chr8:12138226 [GRCh38]
Chr8:11995735 [GRCh37]
Chr8:8p23.1
likely benign
GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3 copy number gain not provided [RCV004577466] Chr8:7153587..12245784 [GRCh37]
Chr8:8p23.1
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1 copy number loss not provided [RCV004819357] Chr8:158049..24812752 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:71
Count of miRNA genes:67
Interacting mature miRNAs:68
Transcripts:ENST00000333796
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human

Markers in Region
G34441  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map8p23.1UniSTS
G01912  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map8p23.1UniSTS
G42601  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map8p23.1UniSTS
SHGC-145429  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map4p16.1UniSTS
TNG Radiation Hybrid Map47008.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
527 966 1227 715 2499 741 830 135 419 37 1208 1962 2180 2 1943 309 1009 659 100

Sequence


Ensembl Acc Id: ENST00000333796   ⟹   ENSP00000333329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl812,136,435 - 12,138,849 (-)Ensembl
RefSeq Acc Id: NM_201402   ⟹   NP_958804
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,136,435 - 12,138,849 (-)NCBI
GRCh37811,994,677 - 11,996,269 (-)RGD
Build 36812,032,086 - 12,033,678 (-)NCBI Archive
Celera811,194,744 - 11,196,336 (+)RGD
CHM1_1812,060,015 - 12,061,607 (-)NCBI
T2T-CHM13v2.087,595,654 - 7,598,068 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_958804 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAR91701 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000333329
  ENSP00000333329.3
GenBank Protein Q6R6M4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_958804   ⟸   NM_201402
- UniProtKB: Q6R6M4 (UniProtKB/Swiss-Prot),   A0AAG2TI18 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000333329   ⟸   ENST00000333796
Protein Domains
USP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6R6M4-F1-model_v2 AlphaFold Q6R6M4 1-530 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34434 AgrOrtholog
COSMIC USP17L2 COSMIC
Ensembl Genes ENSG00000223443 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000333796 ENTREZGENE
  ENST00000333796.4 UniProtKB/Swiss-Prot
Gene3D-CATH Cysteine proteinases UniProtKB/Swiss-Prot
GTEx ENSG00000223443 GTEx
HGNC ID HGNC:34434 ENTREZGENE
Human Proteome Map USP17L2 Human Proteome Map
InterPro Papain-like_cys_pep_sf UniProtKB/Swiss-Prot
  Peptidase_C19 UniProtKB/Swiss-Prot
  Peptidase_C19_UCH UniProtKB/Swiss-Prot
  USP_CS UniProtKB/Swiss-Prot
  USP_dom UniProtKB/Swiss-Prot
KEGG Report hsa:377630 UniProtKB/Swiss-Prot
NCBI Gene 377630 ENTREZGENE
OMIM 610186 OMIM
PANTHER INACTIVE UBIQUITIN CARBOXYL-TERMINAL HYDROLASE 17-LIKE PROTEIN 4-RELATED UniProtKB/Swiss-Prot
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE UniProtKB/Swiss-Prot
Pfam UCH UniProtKB/Swiss-Prot
PharmGKB PA165586023 PharmGKB
PROSITE USP_2 UniProtKB/Swiss-Prot
  USP_3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot
UniProt A0AAG2TI18 ENTREZGENE
  Q6R6M4 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-10-31 USP17L2  ubiquitin specific peptidase 17 like family member 2 (gene/pseudogene)  USP17L2  ubiquitin specific peptidase 17 like family member 2  Symbol and/or name change 19259463 PROVISIONAL
2019-02-19 USP17L2  ubiquitin specific peptidase 17 like family member 2  USP17L2  ubiquitin specific peptidase 17-like family member 2  Symbol and/or name change 5135510 APPROVED
2012-10-16 USP17L2  ubiquitin specific peptidase 17-like family member 2  USP17L2  ubiquitin specific peptidase 17-like 2  Symbol and/or name change 5135510 APPROVED