PRY2 (PTPN13 like Y-linked 2) - Rat Genome Database

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Gene: PRY2 (PTPN13 like Y-linked 2) Homo sapiens
Analyze
Symbol: PRY2
Name: PTPN13 like Y-linked 2
RGD ID: 1349286
HGNC Page HGNC:21504
Description: This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Aug 2024]
Type: ncrna (Ensembl: protein-coding)
RefSeq Status: VALIDATED
Previously known as: PRY; PRYP3; PRYP4; PTPN13-like protein, Y-linked; PTPN13-like, Y-linked 2; PTPN13-like, Y-linked, centromeric; PTPN13LY; PTPN13LY2; testis-specific PTP-BL-related protein on Y; testis-specific PTP-BL-related Y protein
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y22,071,706 - 22,084,875 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY22,071,756 - 22,096,007 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y24,217,853 - 24,231,022 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y22,627,291 - 22,651,542 (-)NCBINCBI36Build 36hg18NCBI36
Build 34Y22,974,668 - 22,998,909NCBI
CeleraY8,821,100 - 8,845,342 (-)NCBICelera
Cytogenetic MapYq11.223NCBI
HuRefY17,798,744 - 17,812,702 (+)NCBIHuRef
T2T-CHM13v2.0Y23,337,168 - 23,350,337 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9381176   PMID:12815422   PMID:15177557   PMID:15489334   PMID:20301513   PMID:30862715  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Yp11.2-q12(chrY:2786811-56885333)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|Global developmental delay [RCV000050326]|Abnormality of the heart [RCV000050327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|See cases [RCV000050325] ChrY:2786811..56885333 [GRCh38]
ChrY:2654852..59031480 [GRCh37]
ChrY:Yp11.2-q12		 pathogenic
GRCh37/hg19 Yq11.21-12(chrY:14698756-59031480)x0 copy number loss See cases [RCV000050825] ChrY:14698756..59031480 [GRCh37]
ChrY:13208776..57440868 [NCBI36]
ChrY:Yq11.21-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2 copy number gain See cases [RCV000050942] ChrY:2786811..22358529 [GRCh38]
ChrY:2654852..24504676 [GRCh37]
ChrY:2714852..22914064 [NCBI36]
ChrY:Yp11.2-q11.223		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000050370] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq11.223(chrY:22028149-22349485)x0 copy number loss See cases [RCV000051457] ChrY:22028149..22349485 [GRCh38]
ChrY:24174296..24495632 [GRCh37]
ChrY:22583684..22905020 [NCBI36]
ChrY:Yq11.223		 uncertain significance
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26389995)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051767]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051767]|See cases [RCV000051767] ChrY:2786811..26389995 [GRCh38]
ChrY:2654852..28536142 [GRCh37]
ChrY:2714852..26945530 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12586822-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|See cases [RCV000051768] ChrY:12586822..57208726 [GRCh38]
ChrY:14698756..59354877 [GRCh37]
ChrY:13208776..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yp11.3-q12(chrY:2651665-59031480)x2 copy number gain See cases [RCV000052585] ChrY:2651665..59031480 [GRCh37]
ChrY:2711665..57440868 [NCBI36]
ChrY:Yp11.3-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786611-26409996)x2 copy number gain See cases [RCV000052586] ChrY:2786611..26409996 [GRCh38]
ChrY:2654652..28556143 [GRCh37]
ChrY:2714652..26965531 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2 copy number gain See cases [RCV000052587] ChrY:2786811..26463830 [GRCh38]
ChrY:2654852..28609977 [GRCh37]
ChrY:2714852..27019365 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2 copy number gain See cases [RCV000052588] ChrY:2786811..26483746 [GRCh38]
ChrY:2654852..28629893 [GRCh37]
ChrY:2714852..27039281 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2 copy number gain See cases [RCV000052551] ChrY:2783624..26637948 [GRCh38]
ChrY:2651665..28784095 [GRCh37]
ChrY:2711665..27193483 [NCBI36]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2 copy number gain See cases [RCV000054342] ChrY:2787210..22302412 [GRCh38]
ChrY:2655251..24448559 [GRCh37]
ChrY:2715251..22857947 [NCBI36]
ChrY:Yp11.2-q11.223		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2 copy number gain See cases [RCV000054344] ChrY:6478684..26574618 [GRCh38]
ChrY:6346725..28720765 [GRCh37]
ChrY:6406725..27130153 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0 copy number loss See cases [RCV000133870] ChrY:14076802..57165209 [GRCh38]
ChrY:16188682..59311360 [GRCh37]
ChrY:14698076..57720748 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:14025789..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x0 copy number loss See cases [RCV000133673] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x3 copy number gain See cases [RCV000133672] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yq11.223(chrY:21927773-22091977)x3 copy number gain See cases [RCV000134587] ChrY:21927773..22091977 [GRCh38]
ChrY:24073920..24238124 [GRCh37]
ChrY:22483308..22647512 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:21927773-22494369)x0 copy number loss See cases [RCV000135315] ChrY:21927773..22494369 [GRCh38]
ChrY:24073920..24640516 [GRCh37]
ChrY:22483308..23049904 [NCBI36]
ChrY:Yq11.223		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0 copy number loss See cases [RCV000135325] ChrY:12965721..57212647 [GRCh38]
ChrY:15077631..59358798 [GRCh37]
ChrY:13587025..57768186 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x3 copy number gain See cases [RCV000135297] ChrY:21927773..26133012 [GRCh38]
ChrY:24073920..28279159 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x0 copy number loss See cases [RCV000135298] ChrY:21927773..26133012 [GRCh38]
ChrY:24073920..28279159 [GRCh37]
ChrY:22483308..26688547 [NCBI36]
ChrY:Yq11.223-11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0 copy number loss See cases [RCV000134844] ChrY:6270281..26463761 [GRCh38]
ChrY:6138322..28609908 [GRCh37]
ChrY:6198322..27019296 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16183453-59011762)x2 copy number gain See cases [RCV000135766] ChrY:16183453..59011762 [GRCh37]
ChrY:14692847..57421150 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18664321-26637948)x2 copy number gain See cases [RCV000135767] ChrY:18664321..26637948 [GRCh38]
ChrY:20826207..28784095 [GRCh37]
ChrY:19285595..27193483 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13948013-57208726)x0 copy number loss See cases [RCV000135529] ChrY:13948013..57208726 [GRCh38]
ChrY:16059893..59354877 [GRCh37]
ChrY:14569287..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0 copy number loss See cases [RCV000136110] ChrY:2786596..26575961 [GRCh38]
ChrY:2654637..28722108 [GRCh37]
ChrY:2714637..27131496 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1 copy number gain See cases [RCV000136525] ChrY:13908860..22358529 [GRCh38]
ChrY:16020740..24504676 [GRCh37]
ChrY:14530134..22914064 [NCBI36]
ChrY:Yq11.221-11.223		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0 copy number loss See cases [RCV000135882] ChrY:15631816..57211010 [GRCh38]
ChrY:17743696..59357161 [GRCh37]
ChrY:16253090..57766549 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2 copy number gain See cases [RCV000136851] ChrY:2855704..24288951 [GRCh38]
ChrY:2723745..26435098 [GRCh37]
ChrY:2783745..24844486 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18545732-57189762)x0 copy number loss See cases [RCV000137556] ChrY:18545732..57189762 [GRCh38]
ChrY:20707618..59335913 [GRCh37]
ChrY:19167006..57745301 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq11.223(chrY:21949807-22728213)x0 copy number loss See cases [RCV000138087] ChrY:21949807..22728213 [GRCh38]
ChrY:24095954..24874360 [GRCh37]
ChrY:22505342..23283748 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.223(chrY:21949807-22737927)x0 copy number loss See cases [RCV000137772] ChrY:21949807..22737927 [GRCh38]
ChrY:24095954..24884074 [GRCh37]
ChrY:22505342..23293462 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0 copy number loss See cases [RCV000138875] ChrY:14062885..57189762 [GRCh38]
ChrY:16174765..59335913 [GRCh37]
ChrY:14684159..57745301 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2 copy number gain See cases [RCV000138422] ChrY:2650559..59032389 [GRCh37]
ChrY:2710559..57441777 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0 copy number loss See cases [RCV000139324] ChrY:2133003..56884424 [GRCh38]
ChrY:1167123..59030571 [GRCh37]
ChrY:1137123..57439959 [NCBI36]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yq11.223(chrY:22070733-22624738)x0 copy number loss See cases [RCV000139939] ChrY:22070733..22624738 [GRCh38]
ChrY:24216880..24770885 [GRCh37]
ChrY:22626268..23180273 [NCBI36]
ChrY:Yq11.223		 uncertain significance
GRCh38/hg38 Yq11.221-12(chrY:16311571-57190586)x0 copy number loss See cases [RCV000139941] ChrY:16311571..57190586 [GRCh38]
ChrY:18423451..59336737 [GRCh37]
ChrY:16932845..57746125 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yq11.223(chrY:21953962-22091977)x3 copy number gain See cases [RCV000140666] ChrY:21953962..22091977 [GRCh38]
ChrY:24100109..24238124 [GRCh37]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:21953962-22091977)x1 copy number loss See cases [RCV000140667] ChrY:21953962..22091977 [GRCh38]
ChrY:24100109..24238124 [GRCh37]
ChrY:22509497..22647512 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:21992711-22091977)x3 copy number gain See cases [RCV000140592] ChrY:21992711..22091977 [GRCh38]
ChrY:24138858..24238124 [GRCh37]
ChrY:22548246..22647512 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:21975562-22091977)x3 copy number gain See cases [RCV000140600] ChrY:21975562..22091977 [GRCh38]
ChrY:24121709..24238124 [GRCh37]
ChrY:22531097..22647512 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0 copy number loss See cases [RCV000141809] ChrY:10624004..57190586 [GRCh38]
ChrY:13134518..59336737 [GRCh37]
ChrY:11244518..57746125 [NCBI36]
ChrY:Yq11.21-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12702930-26653790)x1 copy number gain See cases [RCV000142197] ChrY:12702930..26653790 [GRCh38]
ChrY:14814859..28799937 [GRCh37]
ChrY:13324253..27209325 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12881571-26653790)x1 copy number gain See cases [RCV000142059] ChrY:12881571..26653790 [GRCh38]
ChrY:14993486..28799937 [GRCh37]
ChrY:13502880..27209325 [NCBI36]
ChrY:Yq11.221-12		 likely benign
GRCh38/hg38 Yq11.223(chrY:21568533-22490845)x0 copy number loss See cases [RCV000142954] ChrY:21568533..22490845 [GRCh38]
ChrY:23730419..24636992 [GRCh37]
ChrY:22139807..23046380 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.223(chrY:21034147-22358529)x2 copy number gain See cases [RCV000142662] ChrY:21034147..22358529 [GRCh38]
ChrY:23196033..24504676 [GRCh37]
ChrY:21605421..22914064 [NCBI36]
ChrY:Yq11.223		 uncertain significance
GRCh38/hg38 Yq11.222-11.223(chrY:18664321-22358529)x2 copy number gain See cases [RCV000142769] ChrY:18664321..22358529 [GRCh38]
ChrY:20826207..24504676 [GRCh37]
ChrY:19285595..22914064 [NCBI36]
ChrY:Yq11.222-11.223		 uncertain significance
GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4 copy number gain See cases [RCV000143421] ChrY:11680193..26653790 [GRCh38]
ChrY:13800899..28799937 [GRCh37]
ChrY:12310899..27209325 [NCBI36]
ChrY:Yq11.21-12		 likely pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000148059] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x2 copy number gain See cases [RCV000148271] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2 copy number gain See cases [RCV000240246] ChrY:20297..59358845 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1 copy number loss See cases [RCV000240213] ChrY:10701..59349277 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2 copy number gain See cases [RCV000239812] ChrY:100002..59353228 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2 copy number gain See cases [RCV000239787] ChrY:21267..59349649 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:21267-59337042)x2 copy number gain See cases [RCV000239958] ChrY:21267..59337042 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16188682-59349649)x0 copy number loss See cases [RCV000240102] ChrY:16188682..59349649 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2 copy number gain See cases [RCV000240301] ChrY:126426..59349649 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2 copy number gain See cases [RCV000240305] ChrY:126426..59353228 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0 copy number loss See cases [RCV000446382] ChrY:15415024..59349591 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.223-12(chrY:24108372-59358798)x0 copy number loss See cases [RCV000447015] ChrY:24108372..59358798 [GRCh37]
ChrY:Yq11.223-12		 pathogenic
GRCh37/hg19 Yq11.222-12(chrY:20805226-59336998)x0 copy number loss See cases [RCV000447602] ChrY:20805226..59336998 [GRCh37]
ChrY:Yq11.222-12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:20297-59356174) copy number loss See cases [RCV000448395] ChrY:20297..59356174 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20359545-27839018)x2 copy number gain See cases [RCV000448226] ChrY:20359545..27839018 [GRCh37]
ChrY:Yq11.222-11.23		 likely benign
GRCh37/hg19 Yq11.223-12(chrY:24073794-59336737)x0 copy number loss See cases [RCV000512099] ChrY:24073794..59336737 [GRCh37]
ChrY:Yq11.223-12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:1684070-36905226)x3 copy number gain See cases [RCV000510438] ChrY:1684070..36905226 [GRCh37]
ChrY:Yp11.32-q12		 uncertain significance
GRCh37/hg19 Yq11.21-12(chrY:13871147-59336737)x0 copy number loss See cases [RCV000510252] ChrY:13871147..59336737 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x2 copy number gain See cases [RCV000510700] ChrY:2650141..28799937 [GRCh37]
ChrY:Yp11.31-q11.23		 uncertain significance
GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x0 copy number loss See cases [RCV000511418] ChrY:2650141..28799937 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28451874)x1 copy number loss See cases [RCV000511281] ChrY:168546..28451874 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24073794-28799937)x0 copy number loss not provided [RCV000684440] ChrY:24073794..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:19574920-28423925)x2 copy number gain not provided [RCV000684441] ChrY:19574920..28423925 [GRCh37]
ChrY:Yq11.221-11.23		 likely benign
GRCh37/hg19 Yq11.21-12(chrY:13410538-59032808)x0 copy number loss not provided [RCV000684445] ChrY:13410538..59032808 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yq11.222-11.223(chrY:20618887-24820716)x0 copy number loss not provided [RCV000684439] ChrY:20618887..24820716 [GRCh37]
ChrY:Yq11.222-11.223		 likely benign
GRCh37/hg19 Yq11.1-12(chrY:13132024-28817458)x0 copy number loss not provided [RCV000754010] ChrY:13132024..28817458 [GRCh37]
ChrY:Yq11.1-12		 pathogenic
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
GRCh37/hg19 Yp11.31-q11.23(chrY:2655180-28727063)x0 copy number gain not provided [RCV000753972] ChrY:2655180..28727063 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2655180-58883690)x2 copy number gain not provided [RCV000753973] ChrY:2655180..58883690 [GRCh37]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yq11.223(chrY:24007925-24394570)x3 copy number gain not provided [RCV000754060] ChrY:24007925..24394570 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.223(chrY:24074113-24394570)x3 copy number gain not provided [RCV000754061] ChrY:24074113..24394570 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.223(chrY:24210716-24891486)x0 copy number loss not provided [RCV000754062] ChrY:24210716..24891486 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.223(chrY:23655662-24751625)x0 copy number loss not provided [RCV000754055] ChrY:23655662..24751625 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.223(chrY:24221363-24813163)x0 copy number loss not provided [RCV000754063] ChrY:24221363..24813163 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0 copy number loss Male infertility [RCV001090069] ChrY:20608554..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yp11.31-q11.223(chrY:2650278-24445033) copy number gain not provided [RCV000767654] ChrY:2650278..24445033 [GRCh37]
ChrY:Yp11.31-q11.223		 pathogenic
GRCh37/hg19 Yq11.222-12(chrY:21035530-59336737)x0 copy number loss not provided [RCV000845979] ChrY:21035530..59336737 [GRCh37]
ChrY:Yq11.222-12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:15190336-59343488)x0 copy number loss not provided [RCV000847612] ChrY:15190336..59343488 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0 copy number loss Male infertility [RCV001090072] ChrY:23887108..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0 copy number loss Male infertility [RCV001090083] ChrY:21719615..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16053146-59343488)x2 copy number gain not provided [RCV000848067] ChrY:16053146..59343488 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:21039792-28799937)x0 copy number loss not provided [RCV000847006] ChrY:21039792..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.223(chrY:24137684-25844774)x0 copy number loss not provided [RCV002473437] ChrY:24137684..25844774 [GRCh37]
ChrY:Yq11.223		 uncertain significance
GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0 copy number loss not provided [RCV002473934] ChrY:14370813..59373566 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:19567361-28458663)x2 copy number gain not provided [RCV001007396] ChrY:19567361..28458663 [GRCh37]
ChrY:Yq11.221-11.23		 likely benign
GRCh37/hg19 Yq11.223(chrY:24007925-24891486)x0 copy number loss See cases [RCV001194579] ChrY:24007925..24891486 [GRCh37]
ChrY:Yq11.223		 likely pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0 copy number loss Male infertility [RCV001090077] ChrY:20111978..28423925 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0 copy number loss Male infertility [RCV001090084] ChrY:13800703..28799937 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0 copy number loss Male infertility [RCV001090085] ChrY:15427283..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2 copy number gain not provided [RCV001007377] ChrY:168546..28799937 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0 copy number loss Male infertility [RCV001090076] ChrY:18546605..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654) copy number loss not provided [RCV002221453] ChrY:2650424..28799654 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yq11.21-11.23(chrY:13905421-28799654) copy number loss not provided [RCV002221454] ChrY:13905421..28799654 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:1-59373566) copy number gain Global developmental delay [RCV002280747] ChrY:1..59373566 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16203971-59336737)x0 copy number loss not provided [RCV002474928] ChrY:16203971..59336737 [GRCh37]
ChrY:Yq11.221-12		 uncertain significance
GRCh37/hg19 Yq11.223(chrY:24103932-24892425)x0 copy number loss not provided [RCV002475741] ChrY:24103932..24892425 [GRCh37]
ChrY:Yq11.223		 uncertain significance
GRCh37/hg19 Yq11.221-11.23(chrY:18921311-28799937)x0 copy number loss not provided [RCV003482939] ChrY:18921311..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yq11.223(chrY:24073795-25844774)x2 copy number gain not provided [RCV003483997] ChrY:24073795..25844774 [GRCh37]
ChrY:Yq11.223		 uncertain significance
GRCh37/hg19 Yq11.222-11.23(chrY:21035824-28799654)x0 copy number loss not provided [RCV004442771] ChrY:21035824..28799654 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:815
Count of miRNA genes:444
Interacting mature miRNAs:482
Transcripts:ENST00000303804, ENST00000341740, ENST00000472391
Prediction methods:Microtar, 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.

Markers in Region
G34984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y24,636,552 - 24,636,631UniSTSGRCh37
GRCh37Y24,242,067 - 24,242,146UniSTSGRCh37
CeleraY8,845,255 - 8,845,334RGD
Cytogenetic MapYq11.223UniSTS
HuRefY17,798,752 - 17,798,831UniSTS
G66147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y24,639,351 - 24,639,554UniSTSGRCh37
GRCh37Y24,239,145 - 24,239,348UniSTSGRCh37
CeleraY8,842,332 - 8,842,535RGD
Cytogenetic MapYq11.223UniSTS
HuRefY17,801,551 - 17,801,754UniSTS
G66148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y24,639,331 - 24,639,660UniSTSGRCh37
GRCh37Y24,239,039 - 24,239,368UniSTSGRCh37
CeleraY8,842,226 - 8,842,555RGD
Cytogenetic MapYq11.223UniSTS
HuRefY17,801,531 - 17,801,860UniSTS
sY2986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y24,637,336 - 24,637,664UniSTSGRCh37
GRCh37Y24,241,035 - 24,241,363UniSTSGRCh37
CeleraY8,844,222 - 8,844,550UniSTS
HuRefY17,799,536 - 17,799,864UniSTS
G65848  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS


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
nervous system
renal system
reproductive system
respiratory system
sensory system
1 20 14 13 148 11 13 23 26 4 11 68 44 137 7 369 5 19

Sequence


Ensembl Acc Id: ENST00000303804   ⟹   ENSP00000303300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY22,071,756 - 22,096,007 (-)Ensembl
Ensembl Acc Id: ENST00000472391   ⟹   ENSP00000474545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY22,071,756 - 22,096,007 (-)Ensembl
RefSeq Acc Id: NR_197360
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y22,071,706 - 22,084,875 (-)NCBI
T2T-CHM13v2.0Y23,337,168 - 23,350,337 (+)NCBI
Protein Sequences
GenBank Protein EAW61212 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000302319.1
  ENSP00000303300.1
  ENSP00000474545.1
  ENSP00000474674.1
GenBank Protein O14603 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Acc Id: ENSP00000474545   ⟸   ENST00000472391
Ensembl Acc Id: ENSP00000303300   ⟸   ENST00000303804

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14603-F1-model_v2 AlphaFold O14603 1-147 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC PRY2 COSMIC
Ensembl Genes ENSG00000169789 UniProtKB/Swiss-Prot
  ENSG00000169807 Ensembl, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303728.5 UniProtKB/Swiss-Prot
  ENST00000303804.5 UniProtKB/Swiss-Prot
  ENST00000472391.1 UniProtKB/Swiss-Prot
  ENST00000477123.1 UniProtKB/Swiss-Prot
GTEx ENSG00000169789 GTEx
  ENSG00000169807 GTEx
HGNC ID HGNC:21504 ENTREZGENE
Human Proteome Map PRY2 Human Proteome Map
KEGG Report hsa:442862 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:9081 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene PRY2 ENTREZGENE
OMIM 400041 OMIM
PharmGKB PA134964356 PharmGKB
UniProt A0A384MTZ8_HUMAN UniProtKB/TrEMBL
  O14603 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7ZLM1 UniProtKB/Swiss-Prot
  Q14D09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-08 PRY2  PTPN13 like Y-linked 2  PRY2  PTPN13-like, Y-linked 2  Symbol and/or name change 5135510 APPROVED