PPP1R21 (protein phosphatase 1 regulatory subunit 21) - Rat Genome Database

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Gene: PPP1R21 (protein phosphatase 1 regulatory subunit 21) Homo sapiens
Analyze
Symbol: PPP1R21
Name: protein phosphatase 1 regulatory subunit 21
RGD ID: 1605582
HGNC Page HGNC:30595
Description: Located in early endosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CCDC128; coiled-coil domain containing 128; coiled-coil domain-containing protein 128; FERRY2; FLJ16566; Fy-2; KLRAQ motif containing 1; KLRAQ motif-containing protein 1; KLRAQ1; MGC111781; NEDHFBA; smooth muscle myosin heavy chain 11 isoform SM1-like
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
GRCh38248,440,766 - 48,515,386 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl248,440,598 - 48,515,391 (+)EnsemblGRCh38hg38GRCh38
GRCh37248,667,905 - 48,742,525 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36248,521,412 - 48,596,029 (+)NCBINCBI36Build 36hg18NCBI36
Celera248,507,697 - 48,582,287 (+)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef248,403,647 - 48,478,111 (+)NCBIHuRef
CHM1_1248,598,083 - 48,672,622 (+)NCBICHM1_1
T2T-CHM13v2.0248,446,714 - 48,521,263 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
early endosome  (IBA,IDA,IEA)
endosome  (IEA)
membrane  (HDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Anteverted nares  (IAGP)
Areflexia  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Broad columella  (IAGP)
Cavum septum pellucidum  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Chronic constipation  (IAGP)
Coarse facial features  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed skeletal maturation  (IAGP)
Dysarthria  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Extra-axial cerebrospinal fluid accumulation  (IAGP)
Facial hirsutism  (IAGP)
Feeding difficulties  (IAGP)
Flat occiput  (IAGP)
Flexion contracture  (IAGP)
Gait ataxia  (IAGP)
Global developmental delay  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Long philtrum  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Myoclonic seizure  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Narrow nasal bridge  (IAGP)
Neonatal onset  (IAGP)
Optic atrophy  (IAGP)
Overlapping fingers  (IAGP)
Overlapping toe  (IAGP)
Pectus carinatum  (IAGP)
Plagiocephaly  (IAGP)
Poor suck  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory distress  (IAGP)
Rotary nystagmus  (IAGP)
Scoliosis  (IAGP)
Severe global developmental delay  (IAGP)
Short chin  (IAGP)
Short nose  (IAGP)
Telecanthus  (IAGP)
Tented upper lip vermilion  (IAGP)
Thick eyebrow  (IAGP)
Thick vermilion border  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Weak cry  (IAGP)
Wide nasal bridge  (IAGP)
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:12477932   PMID:14702039   PMID:19389623   PMID:19946888   PMID:21145461   PMID:21873635   PMID:21900206   PMID:22939629   PMID:24705354   PMID:25228645   PMID:25814554   PMID:26186194  
PMID:26496610   PMID:26514267   PMID:26638075   PMID:26760575   PMID:27503909   PMID:28514442   PMID:29568061   PMID:29808498   PMID:30021884   PMID:30520571   PMID:32235678   PMID:33001583  
PMID:33961781   PMID:34079125   PMID:34369648   PMID:34709727   PMID:35156780   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36692708   PMID:37267905   PMID:37267906  


Genomics

Comparative Map Data
PPP1R21
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38248,440,766 - 48,515,386 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl248,440,598 - 48,515,391 (+)EnsemblGRCh38hg38GRCh38
GRCh37248,667,905 - 48,742,525 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36248,521,412 - 48,596,029 (+)NCBINCBI36Build 36hg18NCBI36
Celera248,507,697 - 48,582,287 (+)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef248,403,647 - 48,478,111 (+)NCBIHuRef
CHM1_1248,598,083 - 48,672,622 (+)NCBICHM1_1
T2T-CHM13v2.0248,446,714 - 48,521,263 (+)NCBIT2T-CHM13v2.0
Ppp1r21
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391788,837,552 - 88,895,795 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1788,837,546 - 88,895,795 (+)EnsemblGRCm39 Ensembl
GRCm381788,530,124 - 88,588,367 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1788,530,118 - 88,588,367 (+)EnsemblGRCm38mm10GRCm38
MGSCv371788,929,464 - 88,987,707 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361788,438,587 - 88,496,691 (+)NCBIMGSCv36mm8
Celera1792,948,195 - 93,006,786 (+)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1758.02NCBI
Ppp1r21
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8611,655,059 - 11,724,219 (-)NCBIGRCr8
mRatBN7.265,901,518 - 5,970,684 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl65,901,518 - 5,970,684 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx66,184,768 - 6,254,008 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.066,494,144 - 6,563,384 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.066,021,317 - 6,090,561 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0612,253,788 - 12,323,427 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl612,253,788 - 12,323,421 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0622,270,224 - 22,286,405 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0622,219,113 - 22,263,931 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4612,360,976 - 12,405,728 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera65,674,130 - 5,741,099 (-)NCBICelera
Cytogenetic Map6q12NCBI
Ppp1r21
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544115,004,888 - 15,061,967 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544115,002,126 - 15,061,967 (+)NCBIChiLan1.0ChiLan1.0
PPP1R21
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21277,862,209 - 77,936,543 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A77,866,179 - 77,940,513 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A48,568,114 - 48,642,401 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A49,489,967 - 49,563,464 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A49,489,967 - 49,563,464 (+)Ensemblpanpan1.1panPan2
PPP1R21
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11050,350,521 - 50,415,803 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1050,350,545 - 50,415,732 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1050,204,226 - 50,269,500 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01051,229,673 - 51,295,006 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1051,229,729 - 51,295,065 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11050,929,749 - 50,995,045 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01051,216,609 - 51,281,750 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01051,405,081 - 51,470,229 (+)NCBIUU_Cfam_GSD_1.0
Ppp1r21
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629232,698,552 - 32,765,112 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365084,125,444 - 4,193,323 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365084,127,373 - 4,193,206 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP1R21
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl392,156,008 - 92,227,708 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1392,156,002 - 92,227,719 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2397,965,691 - 98,036,009 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPP1R21
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11458,649,556 - 58,723,610 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1458,648,748 - 58,723,553 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604553,125,831 - 53,196,517 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp1r21
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473829,662,864 - 29,737,676 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473829,662,619 - 29,785,679 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP1R21
84 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV001291441] Chr2:48032122..48698515 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1 copy number loss See cases [RCV000133939] Chr2:46806218..50565538 [GRCh38]
Chr2:47033357..50792676 [GRCh37]
Chr2:46886861..50646180 [NCBI36]
Chr2:2p21-16.3		 pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3 copy number gain See cases [RCV000139665] Chr2:47089663..48479681 [GRCh38]
Chr2:47316802..48706820 [GRCh37]
Chr2:47170306..48560324 [NCBI36]
Chr2:2p21-16.3		 likely pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:48732944-49827891)x3 copy number gain not provided [RCV000752947] Chr2:48732944..49827891 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1		 pathogenic
GRCh37/hg19 2p16.3(chr2:48692697-48897066)x3 copy number gain See cases [RCV000447278] Chr2:48692697..48897066 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:48500265-49197158)x1 copy number loss See cases [RCV000447959] Chr2:48500265..49197158 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001135629.3(PPP1R21):c.1097A>C (p.Glu366Ala) single nucleotide variant Inborn genetic diseases [RCV003250187] Chr2:48474691 [GRCh38]
Chr2:48701830 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1147G>C (p.Glu383Gln) single nucleotide variant Inborn genetic diseases [RCV003255317] Chr2:48474741 [GRCh38]
Chr2:48701880 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1 copy number loss See cases [RCV000512533] Chr2:47361260..54934153 [GRCh37]
Chr2:2p21-16.2		 pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:48707080-48763742)x4 copy number gain not provided [RCV000752946] Chr2:48707080..48763742 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:48554191-48701956)x3 copy number gain not provided [RCV000752945] Chr2:48554191..48701956 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001135629.3(PPP1R21):c.126+2T>C single nucleotide variant Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV003314305] Chr2:48451078 [GRCh38]
Chr2:48678217 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001135629.3(PPP1R21):c.1331A>G (p.His444Arg) single nucleotide variant Inborn genetic diseases [RCV003246580] Chr2:48486643 [GRCh38]
Chr2:48713782 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1499A>G (p.Tyr500Cys) single nucleotide variant PPP1R21-related condition [RCV003958079]|not provided [RCV000897635] Chr2:48491070 [GRCh38]
Chr2:48718209 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.1140G>T (p.Arg380Ser) single nucleotide variant Inborn genetic diseases [RCV003270318] Chr2:48474734 [GRCh38]
Chr2:48701873 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001135629.3(PPP1R21):c.1679G>T (p.Gly560Val) single nucleotide variant not provided [RCV000893203] Chr2:48495758 [GRCh38]
Chr2:48722897 [GRCh37]
Chr2:2p16.3		 benign
NM_001135629.3(PPP1R21):c.1204A>G (p.Ile402Val) single nucleotide variant not provided [RCV000888051] Chr2:48474798 [GRCh38]
Chr2:48701937 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.600-4G>T single nucleotide variant not provided [RCV000958875] Chr2:48461134 [GRCh38]
Chr2:48688273 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.2063del (p.Lys688fs) deletion Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001786431] Chr2:48507362 [GRCh38]
Chr2:48734501 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.1917C>G (p.Pro639=) single nucleotide variant not provided [RCV000913380] Chr2:48498717 [GRCh38]
Chr2:48725856 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.427C>T (p.Arg143Ter) single nucleotide variant Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001527696] Chr2:48459805 [GRCh38]
Chr2:48686944 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.87_88del (p.Gly30fs) deletion Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001527697] Chr2:48451037..48451038 [GRCh38]
Chr2:48678176..48678177 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.347del (p.Ile116fs) deletion Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001527698] Chr2:48458199 [GRCh38]
Chr2:48685338 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.1326C>T (p.Ser442=) single nucleotide variant not provided [RCV001717891] Chr2:48486638 [GRCh38]
Chr2:48713777 [GRCh37]
Chr2:2p16.3		 benign
NM_001135629.3(PPP1R21):c.261C>G (p.Gly87=) single nucleotide variant PPP1R21-related condition [RCV003984011]|not provided [RCV001618753] Chr2:48454729 [GRCh38]
Chr2:48681868 [GRCh37]
Chr2:2p16.3		 benign
NM_001135629.3(PPP1R21):c.541-2A>G single nucleotide variant not provided [RCV001047023] Chr2:48460093 [GRCh38]
Chr2:48687232 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer) deletion Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001807954] Chr2:48474759 [GRCh38]
Chr2:48701898 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001135629.3(PPP1R21):c.193C>T (p.Arg65Ter) single nucleotide variant Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001527701] Chr2:48454661 [GRCh38]
Chr2:48681800 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
NC_000002.11:g.(?_47672677)_(51259192_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001345333] Chr2:47672677..51259192 [GRCh37]
Chr2:2p21-16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.2089C>T (p.Arg697Ter) single nucleotide variant Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001527695] Chr2:48510018 [GRCh38]
Chr2:48737157 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.2170_2171insGGTA (p.Ile724fs) insertion Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001527699] Chr2:48510098..48510099 [GRCh38]
Chr2:48737237..48737238 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.1607dup (p.Leu536fs) duplication Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV001527700] Chr2:48495684..48495685 [GRCh38]
Chr2:48722823..48722824 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.520A>G (p.Asn174Asp) single nucleotide variant not provided [RCV001727136] Chr2:48459898 [GRCh38]
Chr2:48687037 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1645C>T (p.Arg549Cys) single nucleotide variant not provided [RCV001755446] Chr2:48495724 [GRCh38]
Chr2:48722863 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1226-1G>C single nucleotide variant not provided [RCV001727137] Chr2:48479923 [GRCh38]
Chr2:48707062 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1515G>A (p.Ala505=) single nucleotide variant not provided [RCV001815884] Chr2:48491086 [GRCh38]
Chr2:48718225 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.11:g.(?_48018046)_(50170949_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001893873]|not provided [RCV001893874] Chr2:48018046..50170949 [GRCh37]
Chr2:2p16.3		 uncertain significance|no classifications from unflagged records
NM_001135629.3(PPP1R21):c.522C>T (p.Asn174=) single nucleotide variant not provided [RCV002214149] Chr2:48459900 [GRCh38]
Chr2:48687039 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.1728G>T (p.Glu576Asp) single nucleotide variant Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV002260565] Chr2:48498528 [GRCh38]
Chr2:48725667 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_001135629.3(PPP1R21):c.1969-6A>G single nucleotide variant not provided [RCV002263207] Chr2:48507263 [GRCh38]
Chr2:48734402 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.319G>A (p.Val107Ile) single nucleotide variant Inborn genetic diseases [RCV002970556] Chr2:48458171 [GRCh38]
Chr2:48685310 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1646G>A (p.Arg549His) single nucleotide variant Inborn genetic diseases [RCV002752408] Chr2:48495725 [GRCh38]
Chr2:48722864 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.286TCT[2] (p.Ser98del) microsatellite Inborn genetic diseases [RCV002990616] Chr2:48458138..48458140 [GRCh38]
Chr2:48685277..48685279 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1807A>G (p.Lys603Glu) single nucleotide variant not provided [RCV002771373] Chr2:48498607 [GRCh38]
Chr2:48725746 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1629A>C (p.Glu543Asp) single nucleotide variant Inborn genetic diseases [RCV002992061] Chr2:48495708 [GRCh38]
Chr2:48722847 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.242C>T (p.Ala81Val) single nucleotide variant Inborn genetic diseases [RCV002973305] Chr2:48454710 [GRCh38]
Chr2:48681849 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.223C>G (p.Leu75Val) single nucleotide variant Inborn genetic diseases [RCV002946205] Chr2:48454691 [GRCh38]
Chr2:48681830 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.2231T>C (p.Met744Thr) single nucleotide variant Inborn genetic diseases [RCV002687542] Chr2:48511386 [GRCh38]
Chr2:48738525 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1331A>T (p.His444Leu) single nucleotide variant Inborn genetic diseases [RCV002991087] Chr2:48486643 [GRCh38]
Chr2:48713782 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.127-3T>C single nucleotide variant Inborn genetic diseases [RCV002870386] Chr2:48454592 [GRCh38]
Chr2:48681731 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1738G>C (p.Glu580Gln) single nucleotide variant Inborn genetic diseases [RCV002799310] Chr2:48498538 [GRCh38]
Chr2:48725677 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.877A>G (p.Ile293Val) single nucleotide variant Inborn genetic diseases [RCV002998324] Chr2:48465622 [GRCh38]
Chr2:48692761 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.710A>G (p.Asn237Ser) single nucleotide variant Inborn genetic diseases [RCV002998500] Chr2:48464952 [GRCh38]
Chr2:48692091 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.2159C>A (p.Ala720Asp) single nucleotide variant Inborn genetic diseases [RCV002739765] Chr2:48510088 [GRCh38]
Chr2:48737227 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.754A>G (p.Met252Val) single nucleotide variant Inborn genetic diseases [RCV002998501] Chr2:48465499 [GRCh38]
Chr2:48692638 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1846G>A (p.Ala616Thr) single nucleotide variant Inborn genetic diseases [RCV002781705] Chr2:48498646 [GRCh38]
Chr2:48725785 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1357C>T (p.His453Tyr) single nucleotide variant Inborn genetic diseases [RCV002987672] Chr2:48486669 [GRCh38]
Chr2:48713808 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.143A>G (p.Lys48Arg) single nucleotide variant Inborn genetic diseases [RCV002699453] Chr2:48454611 [GRCh38]
Chr2:48681750 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.194G>A (p.Arg65Gln) single nucleotide variant Inborn genetic diseases [RCV002802767] Chr2:48454662 [GRCh38]
Chr2:48681801 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1446+3A>G single nucleotide variant Inborn genetic diseases [RCV002874008] Chr2:48486761 [GRCh38]
Chr2:48713900 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1642C>T (p.Arg548Cys) single nucleotide variant Inborn genetic diseases [RCV002699070] Chr2:48495721 [GRCh38]
Chr2:48722860 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.415G>T (p.Glu139Ter) single nucleotide variant Inborn genetic diseases [RCV002850742] Chr2:48459793 [GRCh38]
Chr2:48686932 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.416A>T (p.Glu139Val) single nucleotide variant Inborn genetic diseases [RCV002850743] Chr2:48459794 [GRCh38]
Chr2:48686933 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.787G>T (p.Val263Phe) single nucleotide variant not provided [RCV002919043] Chr2:48465532 [GRCh38]
Chr2:48692671 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1981G>T (p.Glu661Ter) single nucleotide variant not provided [RCV003065300] Chr2:48507281 [GRCh38]
Chr2:48734420 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.2165A>G (p.Gln722Arg) single nucleotide variant Inborn genetic diseases [RCV002718041] Chr2:48510094 [GRCh38]
Chr2:48737233 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1117T>C (p.Cys373Arg) single nucleotide variant Inborn genetic diseases [RCV002670578] Chr2:48474711 [GRCh38]
Chr2:48701850 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.262A>G (p.Lys88Glu) single nucleotide variant Inborn genetic diseases [RCV002807638] Chr2:48454730 [GRCh38]
Chr2:48681869 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.1469A>G (p.Asn490Ser) single nucleotide variant Inborn genetic diseases [RCV002961680] Chr2:48491040 [GRCh38]
Chr2:48718179 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.310C>T (p.Gln104Ter) single nucleotide variant not provided [RCV003086984] Chr2:48458162 [GRCh38]
Chr2:48685301 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135629.3(PPP1R21):c.937C>T (p.Pro313Ser) single nucleotide variant Inborn genetic diseases [RCV002673376] Chr2:48471126 [GRCh38]
Chr2:48698265 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.837G>C (p.Gln279His) single nucleotide variant Inborn genetic diseases [RCV002920039] Chr2:48465582 [GRCh38]
Chr2:48692721 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.376-5T>G single nucleotide variant Inborn genetic diseases [RCV002807368] Chr2:48459749 [GRCh38]
Chr2:48686888 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.182G>C (p.Ser61Thr) single nucleotide variant Inborn genetic diseases [RCV002897406] Chr2:48454650 [GRCh38]
Chr2:48681789 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.428G>A (p.Arg143Gln) single nucleotide variant Inborn genetic diseases [RCV003190043] Chr2:48459806 [GRCh38]
Chr2:48686945 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.892C>G (p.Gln298Glu) single nucleotide variant Inborn genetic diseases [RCV003191360] Chr2:48465637 [GRCh38]
Chr2:48692776 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.764T>C (p.Ile255Thr) single nucleotide variant Inborn genetic diseases [RCV003196548] Chr2:48465509 [GRCh38]
Chr2:48692648 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1351A>G (p.Ile451Val) single nucleotide variant Inborn genetic diseases [RCV003180572] Chr2:48486663 [GRCh38]
Chr2:48713802 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1577C>A (p.Ala526Asp) single nucleotide variant Inborn genetic diseases [RCV003215046] Chr2:48491148 [GRCh38]
Chr2:48718287 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.2110G>A (p.Ala704Thr) single nucleotide variant Inborn genetic diseases [RCV003261711] Chr2:48510039 [GRCh38]
Chr2:48737178 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.763del (p.Ile255fs) deletion Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV003340881] Chr2:48465508 [GRCh38]
Chr2:48692647 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001135629.3(PPP1R21):c.1569A>T (p.Lys523Asn) single nucleotide variant Inborn genetic diseases [RCV003381329] Chr2:48491140 [GRCh38]
Chr2:48718279 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.53C>G (p.Ser18Trp) single nucleotide variant Inborn genetic diseases [RCV003381330] Chr2:48441006 [GRCh38]
Chr2:48668145 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1309G>A (p.Val437Ile) single nucleotide variant Inborn genetic diseases [RCV003381910] Chr2:48480007 [GRCh38]
Chr2:48707146 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.1897G>A (p.Ala633Thr) single nucleotide variant Inborn genetic diseases [RCV003383523] Chr2:48498697 [GRCh38]
Chr2:48725836 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1741C>T (p.His581Tyr) single nucleotide variant Inborn genetic diseases [RCV003351518] Chr2:48498541 [GRCh38]
Chr2:48725680 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.2214C>G (p.Tyr738Ter) single nucleotide variant PPP1R21-related condition [RCV003403012] Chr2:48511369 [GRCh38]
Chr2:48738508 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1150C>G (p.Leu384Val) single nucleotide variant not provided [RCV003426957] Chr2:48474744 [GRCh38]
Chr2:48701883 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.971G>A (p.Ser324Asn) single nucleotide variant PPP1R21-related condition [RCV003408793] Chr2:48471160 [GRCh38]
Chr2:48698299 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1357C>A (p.His453Asn) single nucleotide variant not provided [RCV003415564] Chr2:48486669 [GRCh38]
Chr2:48713808 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1745G>T (p.Trp582Leu) single nucleotide variant not provided [RCV003415565] Chr2:48498545 [GRCh38]
Chr2:48725684 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1797A>T (p.Arg599=) single nucleotide variant not provided [RCV003415566] Chr2:48498597 [GRCh38]
Chr2:48725736 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.1868C>G (p.Ser623Ter) single nucleotide variant Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities [RCV003404730] Chr2:48498668 [GRCh38]
Chr2:48725807 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:48738494-49500895)x3 copy number gain not specified [RCV003986390] Chr2:48738494..49500895 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.1665T>A (p.Thr555=) single nucleotide variant PPP1R21-related condition [RCV003977077] Chr2:48495744 [GRCh38]
Chr2:48722883 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.223C>A (p.Leu75Ile) single nucleotide variant PPP1R21-related condition [RCV003898994] Chr2:48454691 [GRCh38]
Chr2:48681830 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.231A>G (p.Gln77=) single nucleotide variant PPP1R21-related condition [RCV003919444] Chr2:48454699 [GRCh38]
Chr2:48681838 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.837G>A (p.Gln279=) single nucleotide variant PPP1R21-related condition [RCV003961409] Chr2:48465582 [GRCh38]
Chr2:48692721 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.285A>G (p.Glu95=) single nucleotide variant PPP1R21-related condition [RCV003971777] Chr2:48458137 [GRCh38]
Chr2:48685276 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.1803A>C (p.Ala601=) single nucleotide variant PPP1R21-related condition [RCV003901859] Chr2:48498603 [GRCh38]
Chr2:48725742 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.1856A>G (p.Asn619Ser) single nucleotide variant PPP1R21-related condition [RCV003961678] Chr2:48498656 [GRCh38]
Chr2:48725795 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.154T>C (p.Leu52=) single nucleotide variant PPP1R21-related condition [RCV003923989] Chr2:48454622 [GRCh38]
Chr2:48681761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.418C>A (p.Leu140Met) single nucleotide variant PPP1R21-related condition [RCV003904082] Chr2:48459796 [GRCh38]
Chr2:48686935 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135629.3(PPP1R21):c.258A>C (p.Arg86=) single nucleotide variant PPP1R21-related condition [RCV003934582] Chr2:48454726 [GRCh38]
Chr2:48681865 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.677T>C (p.Val226Ala) single nucleotide variant PPP1R21-related condition [RCV003976969] Chr2:48461215 [GRCh38]
Chr2:48688354 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.336G>A (p.Leu112=) single nucleotide variant not provided [RCV003886977] Chr2:48458188 [GRCh38]
Chr2:48685327 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135629.3(PPP1R21):c.243T>C (p.Ala81=) single nucleotide variant PPP1R21-related condition [RCV003922247] Chr2:48454711 [GRCh38]
Chr2:48681850 [GRCh37]
Chr2:2p16.3		 benign
NM_001135629.3(PPP1R21):c.298T>C (p.Leu100=) single nucleotide variant PPP1R21-related condition [RCV003967269] Chr2:48458150 [GRCh38]
Chr2:48685289 [GRCh37]
Chr2:2p16.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2717
Count of miRNA genes:916
Interacting mature miRNAs:1081
Transcripts:ENST00000281394, ENST00000294952, ENST00000416913, ENST00000421486, ENST00000431614, ENST00000449090, ENST00000455978, ENST00000460299, ENST00000476199
Prediction methods: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.

Markers in Region
SHGC-34039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,704,828 - 48,704,964UniSTSGRCh37
Build 36248,558,332 - 48,558,468RGDNCBI36
Celera248,544,537 - 48,544,673RGD
Cytogenetic Map2p16.3UniSTS
HuRef248,440,486 - 48,440,622UniSTS
TNG Radiation Hybrid Map211376.0UniSTS
Stanford-G3 RH Map22022.0UniSTS
GeneMap99-GB4 RH Map2135.97UniSTS
Whitehead-RH Map2207.2UniSTS
NCBI RH Map2315.1UniSTS
GeneMap99-G3 RH Map22019.0UniSTS
WI-18131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,688,912 - 48,689,051UniSTSGRCh37
Build 36248,542,416 - 48,542,555RGDNCBI36
Celera248,528,672 - 48,528,811RGD
Cytogenetic Map2p16.3UniSTS
HuRef248,424,590 - 48,424,729UniSTS
GeneMap99-GB4 RH Map2135.97UniSTS
Whitehead-RH Map2213.5UniSTS
NCBI RH Map2318.5UniSTS


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 2094 1763 1396 262 1521 174 3507 958 3228 360 1421 1579 102 1124 1988 4
Low 345 1226 330 362 428 291 849 1238 506 59 39 34 73 1 80 800 2 2
Below cutoff 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA449986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY134855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281394   ⟹   ENSP00000281394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,440,769 - 48,515,386 (+)Ensembl
RefSeq Acc Id: ENST00000294952   ⟹   ENSP00000294952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,440,766 - 48,515,386 (+)Ensembl
RefSeq Acc Id: ENST00000416913   ⟹   ENSP00000414130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,440,769 - 48,515,385 (+)Ensembl
RefSeq Acc Id: ENST00000421486   ⟹   ENSP00000410955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,441,129 - 48,454,728 (+)Ensembl
RefSeq Acc Id: ENST00000431614   ⟹   ENSP00000406283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,440,598 - 48,511,468 (+)Ensembl
RefSeq Acc Id: ENST00000449090   ⟹   ENSP00000415696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,440,769 - 48,515,391 (+)Ensembl
RefSeq Acc Id: ENST00000455978   ⟹   ENSP00000403001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,471,311 - 48,498,501 (+)Ensembl
RefSeq Acc Id: ENST00000460299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,464,966 - 48,471,450 (+)Ensembl
RefSeq Acc Id: ENST00000476199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl248,507,211 - 48,515,386 (+)Ensembl
RefSeq Acc Id: NM_001135629   ⟹   NP_001129101
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,440,766 - 48,515,386 (+)NCBI
GRCh37248,667,908 - 48,742,531 (+)RGD
Celera248,507,697 - 48,582,287 (+)RGD
HuRef248,403,647 - 48,478,111 (+)RGD
CHM1_1248,598,083 - 48,672,622 (+)NCBI
T2T-CHM13v2.0248,446,714 - 48,521,263 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001193475   ⟹   NP_001180404
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,440,766 - 48,515,386 (+)NCBI
GRCh37248,667,908 - 48,742,531 (+)RGD
Celera248,507,697 - 48,582,287 (+)RGD
HuRef248,403,647 - 48,478,111 (+)RGD
CHM1_1248,598,083 - 48,672,622 (+)NCBI
T2T-CHM13v2.0248,446,714 - 48,521,263 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152994   ⟹   NP_694539
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,440,766 - 48,515,386 (+)NCBI
GRCh37248,667,908 - 48,742,531 (+)RGD
Build 36248,521,412 - 48,596,029 (+)NCBI Archive
Celera248,507,697 - 48,582,287 (+)RGD
HuRef248,403,647 - 48,478,111 (+)RGD
CHM1_1248,598,083 - 48,672,622 (+)NCBI
T2T-CHM13v2.0248,446,714 - 48,521,263 (+)NCBI
Sequence:
RefSeq Acc Id: NR_024188
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,440,766 - 48,515,386 (+)NCBI
GRCh37248,667,908 - 48,742,531 (+)RGD
Celera248,507,697 - 48,582,287 (+)RGD
HuRef248,403,647 - 48,478,111 (+)RGD
CHM1_1248,598,083 - 48,672,622 (+)NCBI
T2T-CHM13v2.0248,446,714 - 48,521,263 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443254   ⟹   XP_047299210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,440,766 - 48,486,646 (+)NCBI
RefSeq Acc Id: XM_054340461   ⟹   XP_054196436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0248,446,714 - 48,492,534 (+)NCBI
RefSeq Acc Id: XR_007069367
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,440,766 - 48,507,355 (+)NCBI
RefSeq Acc Id: XR_008486266
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0248,446,714 - 48,513,221 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001129101   ⟸   NM_001135629
- Peptide Label: isoform 1
- UniProtKB: Q8J029 (UniProtKB/Swiss-Prot),   Q8IW83 (UniProtKB/Swiss-Prot),   Q6ZMI6 (UniProtKB/Swiss-Prot),   Q2TA78 (UniProtKB/Swiss-Prot),   E1B6W7 (UniProtKB/Swiss-Prot),   B7ZKY7 (UniProtKB/Swiss-Prot),   B7ZKY5 (UniProtKB/Swiss-Prot),   Q96ES8 (UniProtKB/Swiss-Prot),   Q6ZMI0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_694539   ⟸   NM_152994
- Peptide Label: isoform 2
- UniProtKB: Q6ZMI0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180404   ⟸   NM_001193475
- Peptide Label: isoform 5
- UniProtKB: Q6ZMI0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000294952   ⟸   ENST00000294952
RefSeq Acc Id: ENSP00000281394   ⟸   ENST00000281394
RefSeq Acc Id: ENSP00000414130   ⟸   ENST00000416913
RefSeq Acc Id: ENSP00000403001   ⟸   ENST00000455978
RefSeq Acc Id: ENSP00000406283   ⟸   ENST00000431614
RefSeq Acc Id: ENSP00000415696   ⟸   ENST00000449090
RefSeq Acc Id: ENSP00000410955   ⟸   ENST00000421486
RefSeq Acc Id: XP_047299210   ⟸   XM_047443254
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196436   ⟸   XM_054340461
- Peptide Label: isoform X1
Protein Domains
Protein phosphatase 1 regulatory subunit 21 N-   Protein phosphatase 1 regulatory subunit 21 six-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZMI0-F1-model_v2 AlphaFold Q6ZMI0 1-780 view protein structure

Promoters
RGD ID:6860276
Promoter ID:EPDNEW_H3303
Type:initiation region
Name:PPP1R21_1
Description:protein phosphatase 1 regulatory subunit 21
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,440,798 - 48,440,858EPDNEW
RGD ID:6797301
Promoter ID:HG_KWN:32589
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407194,   NR_024188,   OTTHUMT00000251238,   OTTHUMT00000323785,   OTTHUMT00000323788,   OTTHUMT00000324201,   UC002RWI.1,   UC002RWJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36248,521,151 - 48,521,651 (+)MPROMDB
RGD ID:6797739
Promoter ID:HG_KWN:32591
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000323783
Position:
Human AssemblyChrPosition (strand)Source
Build 36248,544,481 - 48,544,981 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30595 AgrOrtholog
COSMIC PPP1R21 COSMIC
Ensembl Genes ENSG00000162869 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000281394 ENTREZGENE
  ENST00000281394.8 UniProtKB/Swiss-Prot
  ENST00000294952 ENTREZGENE
  ENST00000294952.13 UniProtKB/Swiss-Prot
  ENST00000416913 ENTREZGENE
  ENST00000416913.5 UniProtKB/TrEMBL
  ENST00000421486.1 UniProtKB/TrEMBL
  ENST00000431614.5 UniProtKB/TrEMBL
  ENST00000449090 ENTREZGENE
  ENST00000449090.6 UniProtKB/Swiss-Prot
  ENST00000455978.1 UniProtKB/TrEMBL
GTEx ENSG00000162869 GTEx
HGNC ID HGNC:30595 ENTREZGENE
Human Proteome Map PPP1R21 Human Proteome Map
InterPro KLRAQ/TTKRSYEDQ_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP1R21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP1R21_C UniProtKB/Swiss-Prot
  Unchr_KLRAQ/TTKRSYEDQ_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:129285 UniProtKB/Swiss-Prot
NCBI Gene 129285 ENTREZGENE
OMIM 618159 OMIM
PANTHER PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam KLRAQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP1R21_C UniProtKB/Swiss-Prot
  TTKRSYEDQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164722001 PharmGKB
SMART KLRAQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZKY5 ENTREZGENE
  B7ZKY7 ENTREZGENE
  E1B6W7 ENTREZGENE
  F8W7E1_HUMAN UniProtKB/TrEMBL
  F8WBY8_HUMAN UniProtKB/TrEMBL
  F8WE40_HUMAN UniProtKB/TrEMBL
  H7C1Y1_HUMAN UniProtKB/TrEMBL
  PPR21_HUMAN UniProtKB/Swiss-Prot
  Q2TA78 ENTREZGENE
  Q6ZMI0 ENTREZGENE
  Q6ZMI6 ENTREZGENE
  Q8IW83 ENTREZGENE
  Q8J029 ENTREZGENE
  Q96ES8 ENTREZGENE
UniProt Secondary B7ZKY5 UniProtKB/Swiss-Prot
  B7ZKY7 UniProtKB/Swiss-Prot
  E1B6W7 UniProtKB/Swiss-Prot
  Q2TA78 UniProtKB/Swiss-Prot
  Q6ZMI6 UniProtKB/Swiss-Prot
  Q8IW83 UniProtKB/Swiss-Prot
  Q8J029 UniProtKB/Swiss-Prot
  Q96ES8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPP1R21  protein phosphatase 1 regulatory subunit 21    protein phosphatase 1, regulatory subunit 21  Symbol and/or name change 5135510 APPROVED
2011-10-18 PPP1R21  protein phosphatase 1, regulatory subunit 21  KLRAQ1  KLRAQ motif containing 1  Symbol and/or name change 5135510 APPROVED