PPP1R16A (protein phosphatase 1 regulatory subunit 16A) - Rat Genome Database

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Gene: PPP1R16A (protein phosphatase 1 regulatory subunit 16A) Homo sapiens
Analyze
Symbol: PPP1R16A
Name: protein phosphatase 1 regulatory subunit 16A
RGD ID: 1317459
HGNC Page HGNC
Description: Predicted to have myosin phosphatase regulator activity and protein phosphatase 1 binding activity. Predicted to be involved in regulation of protein dephosphorylation. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: likley ortholog of mouse myosin phosphatase targeting subunit 3; MGC14333; myosin phosphatase-targeting subunit 3; MYPT3; protein phosphatase 1, regulatory (inhibitor) subunit 16A
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 Ensembl8144,477,969 - 144,502,121 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,477,982 - 144,502,121 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,703,365 - 145,727,504 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,692,917 - 145,698,312 (+)NCBINCBI36hg18NCBI36
Build 348145,692,916 - 145,698,311NCBI
Celera8141,897,581 - 141,902,976 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,835,190 - 140,840,658 (+)NCBIHuRef
CHM1_18145,760,384 - 145,765,779 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11336659   PMID:11948623   PMID:12477932   PMID:15146197   PMID:15489334   PMID:16169070   PMID:16189514   PMID:16341674   PMID:16920702   PMID:18029348   PMID:19019082   PMID:19060904  
PMID:21509594   PMID:21516116   PMID:21712390   PMID:21873635   PMID:22321011   PMID:23080069   PMID:25201988   PMID:25416956   PMID:26186194   PMID:26401656   PMID:26496610   PMID:28330616  
PMID:28514442   PMID:31515488   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
PPP1R16A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,477,969 - 144,502,121 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,477,982 - 144,502,121 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,703,365 - 145,727,504 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,692,917 - 145,698,312 (+)NCBINCBI36hg18NCBI36
Build 348145,692,916 - 145,698,311NCBI
Celera8141,897,581 - 141,902,976 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,835,190 - 140,840,658 (+)NCBIHuRef
CHM1_18145,760,384 - 145,765,779 (+)NCBICHM1_1
Ppp1r16a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,555,843 - 76,579,119 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,555,815 - 76,579,119 (+)Ensembl
GRCm381576,671,643 - 76,694,919 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,671,615 - 76,694,919 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,502,110 - 76,525,345 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,498,935 - 76,522,170 (+)NCBImm8
Celera1578,165,292 - 78,188,525 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.25NCBI
Ppp1r16a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,391,664 - 108,414,812 (+)NCBI
Rnor_6.0 Ensembl7117,734,002 - 117,757,249 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,734,002 - 117,757,249 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,722,085 - 117,745,228 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,721,078 - 114,744,220 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,774,380 - 114,778,451 (+)NCBI
Celera7104,741,567 - 104,764,704 (+)NCBICelera
Cytogenetic Map7q34NCBI
Ppp1r16a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,119,774 - 3,128,774 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,097,218 - 3,127,896 (+)NCBIChiLan1.0ChiLan1.0
PPP1R16A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,234,295 - 144,257,811 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,252,884 - 144,257,593 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,245,047 - 141,269,015 (+)NCBIMhudiblu_PPA_v0panPan3
PPP1R16A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,887,415 - 37,922,710 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,914,076 - 37,922,751 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,848,198 - 37,883,544 (+)NCBI
ROS_Cfam_1.01338,361,177 - 38,396,538 (+)NCBI
UMICH_Zoey_3.11338,052,922 - 38,088,496 (+)NCBI
UNSW_CanFamBas_1.01338,161,555 - 38,196,898 (+)NCBI
UU_Cfam_GSD_1.01338,638,011 - 38,673,359 (+)NCBI
Ppp1r16a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303344,528 - 361,883 (-)NCBI
SpeTri2.0NW_0049364707,770,627 - 7,788,039 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP1R16A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4297,748 - 320,056 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14302,621 - 320,048 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24393,621 - 411,067 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPP1R16A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,689,414 - 138,716,707 (+)NCBI
ChlSab1.1 Ensembl8138,689,414 - 138,716,488 (+)Ensembl
Ppp1r16a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,360,108 - 12,384,663 (-)NCBI

Position Markers
RH1549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,727,267 - 145,727,494UniSTSGRCh37
Build 368145,698,075 - 145,698,302RGDNCBI36
Celera8141,902,739 - 141,902,966RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,840,421 - 140,840,648UniSTS
GeneMap99-GB4 RH Map8564.4UniSTS
SGC33369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,727,383 - 145,727,493UniSTSGRCh37
Build 368145,698,191 - 145,698,301RGDNCBI36
Celera8141,902,855 - 141,902,965RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,840,537 - 140,840,647UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS
Whitehead-RH Map8723.2UniSTS
PPP1R16A_1616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,726,897 - 145,727,528UniSTSGRCh37
Build 368145,697,705 - 145,698,336RGDNCBI36
Celera8141,902,369 - 141,903,000RGD
HuRef8140,840,051 - 140,840,682UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4079
Count of miRNA genes:939
Interacting mature miRNAs:1145
Transcripts:ENST00000292539, ENST00000435887, ENST00000526183, ENST00000526564, ENST00000526643, ENST00000528430, ENST00000529009, ENST00000529283, ENST00000532806, ENST00000533088, ENST00000533829
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 2406 2148 1636 551 550 393 3847 1851 3497 312 1398 1530 171 1169 2501 1
Low 33 833 88 72 1376 72 508 342 215 107 52 78 1 35 287 3 1
Below cutoff 5 1 18 1 14 6 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001329442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM761618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM762557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN301973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY013777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY050499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY168641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY176205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000292539   ⟹   ENSP00000292539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,490,030 - 144,502,121 (+)Ensembl
RefSeq Acc Id: ENST00000435887   ⟹   ENSP00000391126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,496,726 - 144,502,120 (+)Ensembl
RefSeq Acc Id: ENST00000526183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,477,969 - 144,502,120 (+)Ensembl
RefSeq Acc Id: ENST00000526564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,499,026 - 144,500,954 (+)Ensembl
RefSeq Acc Id: ENST00000526643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,478,098 - 144,479,218 (+)Ensembl
RefSeq Acc Id: ENST00000528430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,501,089 - 144,502,120 (+)Ensembl
RefSeq Acc Id: ENST00000529009   ⟹   ENSP00000480604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,490,041 - 144,497,390 (+)Ensembl
RefSeq Acc Id: ENST00000529283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,477,983 - 144,496,675 (+)Ensembl
RefSeq Acc Id: ENST00000532806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,497,346 - 144,500,612 (+)Ensembl
RefSeq Acc Id: ENST00000533088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,478,351 - 144,496,686 (+)Ensembl
RefSeq Acc Id: ENST00000533829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,490,094 - 144,496,762 (+)Ensembl
RefSeq Acc Id: NM_001329442   ⟹   NP_001316371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,477,982 - 144,502,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329443   ⟹   NP_001316372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,477,982 - 144,502,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329444   ⟹   NP_001316373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,478,351 - 144,502,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329445   ⟹   NP_001316374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,478,351 - 144,502,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032902   ⟹   NP_116291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,477,982 - 144,502,121 (+)NCBI
GRCh378145,703,365 - 145,727,504 (+)NCBI
Build 368145,692,917 - 145,698,312 (+)NCBI Archive
Celera8141,897,581 - 141,902,976 (+)RGD
HuRef8140,835,190 - 140,840,658 (+)ENTREZGENE
CHM1_18145,760,384 - 145,765,779 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447311   ⟹   XP_024303079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,478,059 - 144,502,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447312   ⟹   XP_024303080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,497,201 - 144,502,121 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_116291   ⟸   NM_032902
- UniProtKB: Q96I34 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316371   ⟸   NM_001329442
- UniProtKB: Q96I34 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316372   ⟸   NM_001329443
- UniProtKB: Q96I34 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303079   ⟸   XM_024447311
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001316373   ⟸   NM_001329444
- UniProtKB: Q96I34 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316374   ⟸   NM_001329445
- UniProtKB: Q96I34 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303080   ⟸   XM_024447312
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000292539   ⟸   ENST00000292539
RefSeq Acc Id: ENSP00000391126   ⟸   ENST00000435887
RefSeq Acc Id: ENSP00000480604   ⟸   ENST00000529009

Promoters
RGD ID:6806950
Promoter ID:HG_KWN:62356
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC003ZDF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,692,241 - 145,693,612 (+)MPROMDB
RGD ID:6813482
Promoter ID:HG_ACW:79440
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:PPP1R16A.FAPR07,   PPP1R16A.GAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,696,821 - 145,697,477 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
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 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
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 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3 copy number gain See cases [RCV000140675] Chr8:144468986..144535245 [GRCh38]
Chr8:145694369..145760629 [GRCh37]
Chr8:145665177..145731437 [NCBI36]
Chr8:8q24.3
benign
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
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 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3
benign
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 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145655903-145742879)x1 copy number loss not provided [RCV000748028] Chr8:145655903..145742879 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758635)x3 copy number gain not provided [RCV000748034] Chr8:145667662..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758661)x3 copy number gain not provided [RCV000748035] Chr8:145667662..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145763152)x3 copy number gain not provided [RCV000748036] Chr8:145667662..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667664-145755918)x3 copy number gain not provided [RCV000748037] Chr8:145667664..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145692296-145753271)x1 copy number loss not provided [RCV000748038] Chr8:145692296..145753271 [GRCh37]
Chr8:8q24.3
benign
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 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3 copy number gain not provided [RCV000847278] Chr8:145695493..145798535 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14941 AgrOrtholog
COSMIC PPP1R16A COSMIC
Ensembl Genes ENSG00000160972 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000292539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391126 UniProtKB/Swiss-Prot
  ENSP00000480604 UniProtKB/TrEMBL
Ensembl Transcript ENST00000292539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000435887 UniProtKB/Swiss-Prot
  ENST00000529009 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000160972 GTEx
HGNC ID HGNC:14941 ENTREZGENE
Human Proteome Map PPP1R16A Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  Pase-1_reg_su_16AB UniProtKB/Swiss-Prot
KEGG Report hsa:84988 UniProtKB/Swiss-Prot
NCBI Gene 84988 ENTREZGENE
OMIM 609172 OMIM
Pfam Ank_2 UniProtKB/Swiss-Prot
PharmGKB PA33634 PharmGKB
PIRSF PP1_16AB_vert UniProtKB/Swiss-Prot
PRINTS ANKYRIN UniProtKB/Swiss-Prot
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
UniProt A0A087WWZ0_HUMAN UniProtKB/TrEMBL
  PP16A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DWM5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPP1R16A  protein phosphatase 1 regulatory subunit 16A    protein phosphatase 1, regulatory subunit 16A  Symbol and/or name change 5135510 APPROVED
2011-10-11 PPP1R16A  protein phosphatase 1, regulatory subunit 16A  PPP1R16A  protein phosphatase 1, regulatory (inhibitor) subunit 16A  Symbol and/or name change 5135510 APPROVED