BPY2 (basic charge Y-linked 2) - Rat Genome Database

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Gene: BPY2 (basic charge Y-linked 2) Homo sapiens
Analyze
Symbol: BPY2
Name: basic charge Y-linked 2
RGD ID: 1352551
HGNC Page HGNC:13508
Description: Enables HECT domain binding activity. Involved in spermatogenesis. Located in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: basic charge, Y-linked 2; basic charge, Y-linked, 2; basic protein on Y chromosome 2; BPY2A; BPY2B; BPY2C; testis-specific basic protein on Y, 2; testis-specific basic protein Y 2; variable charge, Y-linked, 2; variably charged protein Y 2; VCY2; VCY2A
Related Pseudogenes: BPY2DP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y22,984,263 - 23,005,465 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY22,973,819 - 23,005,465 (+)EnsemblGRCh38hg38GRCh38
GRCh37Y25,130,410 - 25,151,612 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y23,539,798 - 23,561,000 (+)NCBINCBI36Build 36hg18NCBI36
Build 34Y25,515,176 - 25,536,376NCBI
CeleraY10,935,977 - 10,957,180 (+)NCBICelera
Cytogenetic MapYq11.223NCBI
HuRefY17,912,647 - 17,933,847 (+)NCBIHuRef
T2T-CHM13v2.0Y23,819,939 - 23,841,142 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9381176   PMID:9847074   PMID:10956550   PMID:12207887   PMID:12724276   PMID:12815422   PMID:14627543   PMID:15177557   PMID:15676287   PMID:17511727   PMID:20039973   PMID:20301513  
PMID:24935076   PMID:26162009   PMID:30021884  


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 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 Yq11.221-12(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 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
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
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-q11.23(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 Yq11.223-11.23(chrY:22728116-24198731)x2 copy number gain See cases [RCV000054354] ChrY:22728116..24198731 [GRCh38]
ChrY:24874263..26344878 [GRCh37]
ChrY:23283651..24754266 [NCBI36]
ChrY:Yq11.223-11.23		 uncertain significance
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 Yq11.221-12(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 Yq11.221-12(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 Yq11.221-12(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
GRCh38/hg38 Yq11.223(chrY:22726860-23257963)x2 copy number gain See cases [RCV000138745] ChrY:22726860..23257963 [GRCh38]
ChrY:24873007..25404110 [GRCh37]
ChrY:23282395..23813498 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.223(chrY:22726860-23257963)x0 copy number loss See cases [RCV000138746] ChrY:22726860..23257963 [GRCh38]
ChrY:24873007..25404110 [GRCh37]
ChrY:23282395..23813498 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.223(chrY:22652856-23140819)x2 copy number gain See cases [RCV000138444] ChrY:22652856..23140819 [GRCh38]
ChrY:24799003..25286966 [GRCh37]
ChrY:23208391..23696354 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.223-11.23(chrY:22727003-25749348)x0 copy number loss See cases [RCV000138341] ChrY:22727003..25749348 [GRCh38]
ChrY:24873150..27895495 [GRCh37]
ChrY:23282538..26304883 [NCBI36]
ChrY:Yq11.223-11.23		 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 Yq11.221-12(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 Yq11.223(chrY:22662513-23140819)x2 copy number gain See cases [RCV000139686] ChrY:22662513..23140819 [GRCh38]
ChrY:24808660..25286966 [GRCh37]
ChrY:23218048..23696354 [NCBI36]
ChrY:Yq11.223		 likely benign
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 Yq11.21-12(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: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 Yq11.221-12(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 Yq11.21-12(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:24740855-28321739)x0 copy number loss not provided [RCV000684435] ChrY:24740855..28321739 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28352893)x0 copy number loss not provided [RCV000684436] ChrY:24644460..28352893 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28451874)x2 copy number gain not provided [RCV000684437] ChrY:24644460..28451874 [GRCh37]
ChrY:Yq11.223-11.23		 likely benign
GRCh37/hg19 Yq11.223-11.23(chrY:24663585-28799937)x0 copy number loss not provided [RCV000684438] ChrY:24663585..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 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 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 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 Yq11.223-11.23(chrY:24522363-28701583)x3 copy number gain not provided [RCV000754075] ChrY:24522363..28701583 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24522363-28742675)x3 copy number gain not provided [RCV000754077] ChrY:24522363..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
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 Yq11.223-11.23(chrY:24522363-28727063)x3 copy number gain not provided [RCV000754076] ChrY:24522363..28727063 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24461432-28742675)x3 copy number gain not provided [RCV000754072] ChrY:24461432..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24461432-28701583)x3 copy number gain not provided [RCV000754071] ChrY:24461432..28701583 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24500602-28727063)x3 copy number gain not provided [RCV000754073] ChrY:24500602..28727063 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24500602-28742675)x3 copy number gain not provided [RCV000754074] ChrY:24500602..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
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 Yq11.21-11.23(chrY:13800703-28799937)x0 copy number loss Male infertility [RCV001090084] ChrY:13800703..28799937 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0 copy number loss Male infertility [RCV001090075] ChrY:24770884..28355431 [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 Yq11.223-12(chrY:24770884-59336737)x0 copy number loss not provided [RCV001007400] ChrY:24770884..59336737 [GRCh37]
ChrY:Yq11.223-12		 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 Yq11.222-11.23(chrY:21039792-28799937)x0 copy number loss not provided [RCV000847006] ChrY:21039792..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:15190336-59343488)x0 copy number loss not provided [RCV000847612] ChrY:15190336..59343488 [GRCh37]
ChrY:Yq11.221-12		 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 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 Yq11.223-11.23(chrY:24644461-28341390)x1 copy number loss not provided [RCV002472673] ChrY:24644461..28341390 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
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 Yq11.223-11.23(chrY:24644460-28423925)x2 copy number gain not provided [RCV001007399] ChrY:24644460..28423925 [GRCh37]
ChrY:Yq11.223-11.23		 likely benign
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 Yq11.223-11.23(chrY:24644460-28341390)x0 copy number loss Male infertility [RCV001090070] ChrY:24644460..28341390 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0 copy number loss Male infertility [RCV001090079] ChrY:24651462..28328263 [GRCh37]
ChrY:Yq11.223-11.23		 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 Yq11.222-11.23(chrY:20608554-28799937)x0 copy number loss Male infertility [RCV001090069] ChrY:20608554..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24770885-28410810)x0 copy number loss not provided [RCV001834172] ChrY:24770885..28410810 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
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 Yq11.223-11.23(chrY:24985375-28458663)x2 copy number gain See cases [RCV002286334] ChrY:24985375..28458663 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
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:24073795-25844774)x2 copy number gain not provided [RCV003483997] ChrY:24073795..25844774 [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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:957
Count of miRNA genes:497
Interacting mature miRNAs:532
Transcripts:ENST00000331070, ENST00000382585, ENST00000602732, ENST00000602818
Prediction methods:Miranda, Pita, 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
G34986  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS
Cytogenetic MapYq11UniSTS
G65869  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS
Cytogenetic MapYq11UniSTS


Expression


Sequence


Reference Sequences
RefSeq Acc Id: NM_004678   ⟹   NP_004669
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y22,984,263 - 23,005,465 (+)NCBI
GRCh37Y25,130,410 - 25,151,612 (+)RGD
Build 36Y23,539,798 - 23,561,000 (+)NCBI Archive
HuRefY17,912,647 - 17,933,847 (+)NCBI
T2T-CHM13v2.0Y23,819,939 - 23,841,142 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004669 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51828 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000329106
  ENSP00000329106.3
  ENSP00000371724.1
  ENSP00000371829.1
  ENSP00000372028.1
  ENSP00000473270.1
  ENSP00000473491.1
  ENSP00000473549.1
  ENSP00000480184.1
  ENSP00000480751.1
GenBank Protein O14599 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004669   ⟸   NM_004678
- UniProtKB: O14599 (UniProtKB/Swiss-Prot)
- Sequence:

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14599-F1-model_v2 AlphaFold O14599 1-106 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC BPY2 COSMIC
Ensembl Genes ENSG00000183753 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000183795 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000185894 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331070 ENTREZGENE
  ENST00000331070.8 UniProtKB/Swiss-Prot
  ENST00000382287.5 UniProtKB/Swiss-Prot
  ENST00000382392.5 UniProtKB/Swiss-Prot
  ENST00000382585.2 UniProtKB/Swiss-Prot
  ENST00000602680.1 UniProtKB/TrEMBL
  ENST00000602732.5 UniProtKB/TrEMBL
  ENST00000602770.5 UniProtKB/TrEMBL
  ENST00000615850.1 UniProtKB/Swiss-Prot
  ENST00000618574.1 UniProtKB/Swiss-Prot
GTEx ENSG00000183753 GTEx
  ENSG00000183795 GTEx
  ENSG00000185894 GTEx
HGNC ID HGNC:13508 ENTREZGENE
Human Proteome Map BPY2 Human Proteome Map
KEGG Report hsa:442867 UniProtKB/Swiss-Prot
  hsa:442868 UniProtKB/Swiss-Prot
  hsa:9083 UniProtKB/Swiss-Prot
NCBI Gene 9083 ENTREZGENE
OMIM 400013 OMIM
PharmGKB PA37794 PharmGKB
UniProt O14599 ENTREZGENE
  R4GMN0_HUMAN UniProtKB/TrEMBL
  VCY2_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 BPY2  basic charge Y-linked 2  BPY2  basic charge, Y-linked, 2  Symbol and/or name change 5135510 APPROVED