MRPS22 (mitochondrial ribosomal protein S22) - Rat Genome Database
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Gene: MRPS22 (mitochondrial ribosomal protein S22) Homo sapiens
Analyze
Symbol: MRPS22
Name: mitochondrial ribosomal protein S22
RGD ID: 1353996
HGNC Page HGNC
Description: A structural constituent of ribosome. Predicted to be involved in mitochondrial translational elongation and mitochondrial translational termination. Localizes to mitochondrial small ribosomal subunit. Implicated in combined oxidative phosphorylation deficiency 5 and ovarian dysgenesis 7.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 28S ribosomal protein S22, mitochondrial; C3orf5; COXPD5; GIBT; GK002; mitochondrial small ribosomal subunit protein mS22; MRP-S22; ODG7; RPMS22; S22mt
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MRPS22P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3139,005,806 - 139,357,223 (+)EnsemblGRCh38hg38GRCh38
GRCh383139,343,994 - 139,357,140 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373139,062,861 - 139,075,888 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,545,551 - 140,558,578 (+)NCBINCBI36hg18NCBI36
Build 343140,545,558 - 140,558,583NCBI
Celera3137,485,814 - 137,498,839 (+)NCBI
Cytogenetic Map3q23NCBI
HuRef3136,438,309 - 136,451,335 (+)NCBIHuRef
CHM1_13139,026,426 - 139,039,453 (+)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

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10938081   PMID:11175783   PMID:11279123   PMID:11543634   PMID:12477932   PMID:12706105   PMID:15081106   PMID:15489334   PMID:16196087   PMID:16236267   PMID:16303743   PMID:17314511  
PMID:17353931   PMID:17873122   PMID:18029348   PMID:18539099   PMID:20020773   PMID:20186120   PMID:20360068   PMID:20877624   PMID:21139048   PMID:21145461   PMID:21182203   PMID:21873635  
PMID:21890473   PMID:21906983   PMID:21907836   PMID:22013104   PMID:22658674   PMID:22904065   PMID:22939629   PMID:22990118   PMID:23184937   PMID:23246001   PMID:23251661   PMID:23443559  
PMID:23473034   PMID:23667531   PMID:23973329   PMID:24189400   PMID:24244333   PMID:24457600   PMID:24816145   PMID:25324306   PMID:25437307   PMID:25814554   PMID:25900982   PMID:25921289  
PMID:26186194   PMID:26344197   PMID:26485645   PMID:26496610   PMID:26549023   PMID:26687479   PMID:26725010   PMID:26845356   PMID:26949251   PMID:27025967   PMID:27684187   PMID:28077445  
PMID:28514442   PMID:28515276   PMID:28533407   PMID:28675297   PMID:28712289   PMID:28752220   PMID:28986522   PMID:29053956   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29395067  
PMID:29507755   PMID:29509190   PMID:29566152   PMID:29568061   PMID:29721183   PMID:29802200   PMID:29845934   PMID:29955894   PMID:30021884   PMID:30196744   PMID:30209976   PMID:30463901  
PMID:30471916   PMID:30581152   PMID:30833792   PMID:31091453   PMID:31527615   PMID:31540324   PMID:31586073   PMID:31617661   PMID:31685992   PMID:31722399   PMID:31822558   PMID:31980649  
PMID:32838362   PMID:32877691  


Genomics

Comparative Map Data
MRPS22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3139,005,806 - 139,357,223 (+)EnsemblGRCh38hg38GRCh38
GRCh383139,343,994 - 139,357,140 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373139,062,861 - 139,075,888 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,545,551 - 140,558,578 (+)NCBINCBI36hg18NCBI36
Build 343140,545,558 - 140,558,583NCBI
Celera3137,485,814 - 137,498,839 (+)NCBI
Cytogenetic Map3q23NCBI
HuRef3136,438,309 - 136,451,335 (+)NCBIHuRef
CHM1_13139,026,426 - 139,039,453 (+)NCBICHM1_1
Mrps22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39998,470,783 - 98,483,732 (-)NCBIGRCm39mm39
GRCm38998,588,730 - 98,601,679 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl998,588,730 - 98,601,660 (-)EnsemblGRCm38mm10GRCm38
MGSCv37998,489,149 - 98,502,098 (-)NCBIGRCm37mm9NCBIm37
MGSCv36998,398,089 - 98,411,011 (-)NCBImm8
Celera998,134,359 - 98,147,288 (-)NCBICelera
Cytogenetic Map9E3.3NCBI
Mrps22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.08106,604,421 - 106,617,591 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8106,604,379 - 106,617,597 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08106,047,828 - 106,060,998 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera898,592,165 - 98,605,335 (-)NCBICelera
Cytogenetic Map8q31NCBI
Mrps22
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555086,232,514 - 6,246,633 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555086,232,514 - 6,246,593 (-)NCBIChiLan1.0ChiLan1.0
MRPS22
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13143,638,771 - 143,993,852 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3143,980,670 - 143,993,842 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03136,380,963 - 136,394,148 (+)NCBIMhudiblu_PPA_v0panPan3
MRPS22
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12335,508,478 - 35,536,081 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mrps22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365401,451,882 - 1,466,569 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPS22
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1379,981,676 - 80,232,774 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11380,006,656 - 80,232,107 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21387,874,586 - 87,894,354 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MRPS22
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1551,198,553 - 51,211,532 (-)Ensembl
ChlSab1.11551,198,515 - 51,211,587 (-)NCBI
Mrps22
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473015,894,624 - 15,908,069 (+)NCBI

Position Markers
STS-N62924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,075,810 - 139,076,031UniSTSGRCh37
Build 363140,558,500 - 140,558,721RGDNCBI36
Celera3137,498,761 - 137,498,982RGD
Cytogenetic Map3q23UniSTS
HuRef3136,451,257 - 136,451,478UniSTS
TNG Radiation Hybrid Map379033.0UniSTS
GeneMap99-GB4 RH Map3486.13UniSTS
NCBI RH Map31200.8UniSTS
RH93370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,075,759 - 139,075,841UniSTSGRCh37
Build 363140,558,449 - 140,558,531RGDNCBI36
Celera3137,498,710 - 137,498,792RGD
Cytogenetic Map3q23UniSTS
HuRef3136,451,206 - 136,451,288UniSTS
GeneMap99-GB4 RH Map3486.13UniSTS
RH98266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,072,968 - 139,073,084UniSTSGRCh37
Build 363140,555,658 - 140,555,774RGDNCBI36
Celera3137,495,919 - 137,496,035RGD
Cytogenetic Map3q23UniSTS
HuRef3136,448,415 - 136,448,531UniSTS
GeneMap99-GB4 RH Map3486.13UniSTS
A004F45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,072,890 - 139,073,050UniSTSGRCh37
Build 363140,555,580 - 140,555,740RGDNCBI36
Celera3137,495,841 - 137,496,001RGD
Cytogenetic Map3q23UniSTS
GeneMap99-GB4 RH Map3487.95UniSTS
NCBI RH Map31206.4UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1694
Count of miRNA genes:723
Interacting mature miRNAs:819
Transcripts:ENST00000310776, ENST00000465056, ENST00000465373, ENST00000466690, ENST00000478464, ENST00000480644, ENST00000480938, ENST00000483545, ENST00000486705, ENST00000489521, ENST00000492644, ENST00000495075, ENST00000495225, ENST00000498505
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 2268 1998 1553 465 1170 336 4304 1969 2566 334 1354 1469 143 1190 2772 3
Low 166 984 171 158 776 129 52 225 1163 85 100 139 30 1 14 16 1 1
Below cutoff 5 2 4 4 4 2 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000310776   ⟹   ENSP00000310785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,019 - 139,357,043 (+)Ensembl
RefSeq Acc Id: ENST00000465056   ⟹   ENSP00000418233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,027 - 139,357,033 (+)Ensembl
RefSeq Acc Id: ENST00000465373   ⟹   ENSP00000419920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,039 - 139,350,259 (+)Ensembl
RefSeq Acc Id: ENST00000466690   ⟹   ENSP00000419737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,041 - 139,351,062 (+)Ensembl
RefSeq Acc Id: ENST00000478464   ⟹   ENSP00000419303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,565 - 139,357,014 (+)Ensembl
RefSeq Acc Id: ENST00000480644   ⟹   ENSP00000420229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,348,282 - 139,352,792 (+)Ensembl
RefSeq Acc Id: ENST00000480938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,027 - 139,357,051 (+)Ensembl
RefSeq Acc Id: ENST00000483545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,346,966 - 139,351,156 (+)Ensembl
RefSeq Acc Id: ENST00000486705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,116 - 139,348,507 (+)Ensembl
RefSeq Acc Id: ENST00000489521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,281,714 - 139,344,023 (+)Ensembl
RefSeq Acc Id: ENST00000492644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,350,870 - 139,357,046 (+)Ensembl
RefSeq Acc Id: ENST00000495075   ⟹   ENSP00000418008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,005,806 - 139,357,046 (+)Ensembl
RefSeq Acc Id: ENST00000495225   ⟹   ENSP00000417104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,110,404 - 139,346,950 (+)Ensembl
RefSeq Acc Id: ENST00000498505   ⟹   ENSP00000420482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3139,344,022 - 139,357,223 (+)Ensembl
RefSeq Acc Id: NM_001363857   ⟹   NP_001350786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,344,551 - 139,357,140 (+)NCBI
RefSeq Acc Id: NM_001363893   ⟹   NP_001350822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,343,994 - 139,357,140 (+)NCBI
RefSeq Acc Id: NM_020191   ⟹   NP_064576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,344,020 - 139,357,129 (+)NCBI
GRCh373139,062,861 - 139,075,888 (+)RGD
Build 363140,545,551 - 140,558,578 (+)NCBI Archive
Celera3137,485,814 - 137,498,839 (+)RGD
HuRef3136,438,309 - 136,451,335 (+)ENTREZGENE
CHM1_13139,026,426 - 139,039,453 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_064576   ⟸   NM_020191
- Peptide Label: isoform 1
- UniProtKB: P82650 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350822   ⟸   NM_001363893
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001350786   ⟸   NM_001363857
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000419303   ⟸   ENST00000478464
RefSeq Acc Id: ENSP00000418233   ⟸   ENST00000465056
RefSeq Acc Id: ENSP00000419920   ⟸   ENST00000465373
RefSeq Acc Id: ENSP00000419737   ⟸   ENST00000466690
RefSeq Acc Id: ENSP00000420229   ⟸   ENST00000480644
RefSeq Acc Id: ENSP00000418008   ⟸   ENST00000495075
RefSeq Acc Id: ENSP00000417104   ⟸   ENST00000495225
RefSeq Acc Id: ENSP00000310785   ⟸   ENST00000310776
RefSeq Acc Id: ENSP00000420482   ⟸   ENST00000498505

Promoters
RGD ID:6865820
Promoter ID:EPDNEW_H6075
Type:multiple initiation site
Name:MRPS22_1
Description:mitochondrial ribosomal protein S22
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
GRCh383139,344,020 - 139,344,080EPDNEW
RGD ID:6801328
Promoter ID:HG_KWN:46334
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003ETB.1,   UC003ETC.1,   UC003ETD.1,   UC003ETE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363140,545,399 - 140,545,899 (+)MPROMDB
RGD ID:6852228
Promoter ID:EP73920
Type:multiple initiation site
Name:HS_MRPS22
Description:Mitochondrial ribosomal protein S22.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 363140,545,552 - 140,545,612EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020191.3(MRPS22):c.644T>C (p.Leu215Pro) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000023481] Chr3:139350318 [GRCh38]
Chr3:139069160 [GRCh37]
Chr3:3q23
pathogenic
NM_020191.3(MRPS22):c.509G>A (p.Arg170His) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000005019]|not provided [RCV000799575] Chr3:139350183 [GRCh38]
Chr3:139069025 [GRCh37]
Chr3:3q23
pathogenic
NM_020191.3(MRPS22):c.42_43delinsAG (p.Arg15Gly) indel not provided [RCV000722373] Chr3:139344068..139344069 [GRCh38]
Chr3:139062910..139062911 [GRCh37]
Chr3:3q23
uncertain significance
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_020191.2(MRPS22):c.1014G>A (p.Lys338=) single nucleotide variant Malignant melanoma [RCV000060717] Chr3:139356945 [GRCh38]
Chr3:139075787 [GRCh37]
Chr3:140558477 [NCBI36]
Chr3:3q23
not provided
NM_020191.3(MRPS22):c.201A>G (p.Lys67=) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001150404]|not provided [RCV000677063]|not specified [RCV000126806] Chr3:139346906 [GRCh38]
Chr3:139065748 [GRCh37]
Chr3:3q23
benign|likely benign
NM_020191.3(MRPS22):c.283A>C (p.Ile95Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000359793]|not provided [RCV000224358]|not specified [RCV000126807] Chr3:139346988 [GRCh38]
Chr3:139065830 [GRCh37]
Chr3:3q23
benign|likely benign
NM_020191.3(MRPS22):c.6G>A (p.Ala2=) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001148880]|not provided [RCV000912354]|not specified [RCV000126808] Chr3:139344032 [GRCh38]
Chr3:139062874 [GRCh37]
Chr3:3q23
benign|likely benign|uncertain significance
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 copy number gain See cases [RCV000136768] Chr3:138629115..140055056 [GRCh38]
Chr3:138347957..139773898 [GRCh37]
Chr3:139830647..141256588 [NCBI36]
Chr3:3q22.3-23
pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23
pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24
pathogenic
NM_020191.3(MRPS22):c.327A>G (p.Ala109=) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000265078]|not provided [RCV000931370] Chr3:139347032 [GRCh38]
Chr3:139065874 [GRCh37]
Chr3:3q23
benign|uncertain significance
NM_020191.3(MRPS22):c.938C>T (p.Ser313Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001144323]|not provided [RCV000197847] Chr3:139355741 [GRCh38]
Chr3:139074583 [GRCh37]
Chr3:3q23
conflicting interpretations of pathogenicity|uncertain significance
NM_020191.3(MRPS22):c.173-15_173-14dup duplication not specified [RCV000197881] Chr3:139346862..139346863 [GRCh38]
Chr3:139065704..139065705 [GRCh37]
Chr3:3q23
likely pathogenic|benign
NM_020191.3(MRPS22):c.664G>A (p.Asp222Asn) single nucleotide variant not provided [RCV000198289] Chr3:139350992 [GRCh38]
Chr3:139069834 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.787C>T (p.Arg263Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001144321] Chr3:139352701 [GRCh38]
Chr3:139071543 [GRCh37]
Chr3:3q23
likely pathogenic|uncertain significance
NM_020191.2(MRPS22):c.232A>G (p.Ile78Val) single nucleotide variant not specified [RCV000199578] Chr3:139346937 [GRCh38]
Chr3:139065779 [GRCh37]
Chr3:3q23
likely benign
NM_020191.3(MRPS22):c.741C>G (p.His247Gln) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001144320]|not provided [RCV000757468] Chr3:139352655 [GRCh38]
Chr3:139071497 [GRCh37]
Chr3:3q23
benign|likely benign
NM_020191.3(MRPS22):c.617C>T (p.Thr206Ile) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000374368]|not provided [RCV000677064] Chr3:139350291 [GRCh38]
Chr3:139069133 [GRCh37]
Chr3:3q23
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020191.3(MRPS22):c.503G>A (p.Arg168Gln) single nucleotide variant not provided [RCV000199712] Chr3:139348323 [GRCh38]
Chr3:139067165 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.768_769del (p.Gly257fs) deletion not provided [RCV000199847] Chr3:139352681..139352682 [GRCh38]
Chr3:139071523..139071524 [GRCh37]
Chr3:3q23
pathogenic
NM_020191.3(MRPS22):c.502C>T (p.Arg168Trp) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001150405]|not provided [RCV000196283] Chr3:139348322 [GRCh38]
Chr3:139067164 [GRCh37]
Chr3:3q23
likely pathogenic|uncertain significance
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23
likely pathogenic
NM_020191.3(MRPS22):c.90G>A (p.Gln30=) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000268532]|not specified [RCV000600779] Chr3:139344116 [GRCh38]
Chr3:139062958 [GRCh37]
Chr3:3q23
likely benign|uncertain significance
NM_020191.3(MRPS22):c.652A>G (p.Met218Val) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000316625] Chr3:139350980 [GRCh38]
Chr3:139069822 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.340-14T>A single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000319677]|not specified [RCV000443751] Chr3:139348146 [GRCh38]
Chr3:139066988 [GRCh37]
Chr3:3q23
likely benign|uncertain significance
NM_020191.3(MRPS22):c.172+11T>C single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000304954] Chr3:139344209 [GRCh38]
Chr3:139063051 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.732G>A (p.Lys244=) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000389799] Chr3:139351060 [GRCh38]
Chr3:139069902 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.799T>C (p.Tyr267His) single nucleotide variant Combined oxidative phosphorylation deficiency [RCV000295515] Chr3:139352713 [GRCh38]
Chr3:139071555 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.4(MRPS22):c.648+19del deletion Combined oxidative phosphorylation deficiency [RCV000261452] Chr3:139350338 [GRCh38]
Chr3:139069180 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.1045T>A (p.Tyr349Asn) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV000386191] Chr3:139356976 [GRCh38]
Chr3:139075818 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.4(MRPS22):c.987+15del deletion Combined oxidative phosphorylation deficiency [RCV000350316]|not specified [RCV000486503] Chr3:139355797 [GRCh38]
Chr3:139074639 [GRCh37]
Chr3:3q23
likely benign|uncertain significance
NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln) single nucleotide variant OVARIAN DYSGENESIS 7 [RCV000680193]|Primary Ovarian Insufficiency [RCV001002739]|Primary ovarian failure [RCV000590830] Chr3:139348224 [GRCh38]
Chr3:139067066 [GRCh37]
Chr3:3q23
pathogenic|uncertain significance
NM_020191.3(MRPS22):c.605G>A (p.Arg202His) single nucleotide variant 46,XX gonadal dysgenesis [RCV000590993]|OVARIAN DYSGENESIS 7 [RCV000680194] Chr3:139350279 [GRCh38]
Chr3:139069121 [GRCh37]
Chr3:3q23
pathogenic
NM_020191.3(MRPS22):c.767G>A (p.Arg256His) single nucleotide variant not specified [RCV000423782] Chr3:139352681 [GRCh38]
Chr3:139071523 [GRCh37]
Chr3:3q23
likely benign
NM_020191.3(MRPS22):c.-8-34dup duplication not specified [RCV000486843] Chr3:139343983..139343984 [GRCh38]
Chr3:139062825..139062826 [GRCh37]
Chr3:3q23
likely benign
NM_020191.3(MRPS22):c.878+1G>T single nucleotide variant not provided [RCV000498674] Chr3:139352793 [GRCh38]
Chr3:139071635 [GRCh37]
Chr3:3q23
pathogenic|likely pathogenic
Single allele deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000503510] Chr3:138944012..139141037 [GRCh37]
Chr3:3q23
pathogenic
GRCh37/hg19 3q22.3-23(chr3:138413416-139096053)x3 copy number gain See cases [RCV000511927] Chr3:138413416..139096053 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020191.3(MRPS22):c.141G>T (p.Gly47=) single nucleotide variant not specified [RCV000609409] Chr3:139344167 [GRCh38]
Chr3:139063009 [GRCh37]
Chr3:3q23
likely benign
NM_020191.3(MRPS22):c.173-14A>G single nucleotide variant not specified [RCV000609685] Chr3:139346864 [GRCh38]
Chr3:139065706 [GRCh37]
Chr3:3q23
likely benign
NM_020191.4(MRPS22):c.987+15dup duplication not specified [RCV000615732] Chr3:139355796..139355797 [GRCh38]
Chr3:139074638..139074639 [GRCh37]
Chr3:3q23
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020191.3(MRPS22):c.321T>C (p.Thr107=) single nucleotide variant not provided [RCV000922274]|not specified [RCV000616984] Chr3:139347026 [GRCh38]
Chr3:139065868 [GRCh37]
Chr3:3q23
benign|likely benign
NM_020191.3(MRPS22):c.732+13T>G single nucleotide variant not specified [RCV000604755] Chr3:139351073 [GRCh38]
Chr3:139069915 [GRCh37]
Chr3:3q23
likely benign
NM_020191.3(MRPS22):c.42_44GAG[1] (p.Arg15del) microsatellite Inborn genetic diseases [RCV000622577] Chr3:139344068..139344070 [GRCh38]
Chr3:139062910..139062912 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.489T>G (p.Tyr163Ter) single nucleotide variant Inborn genetic diseases [RCV000623532] Chr3:139348309 [GRCh38]
Chr3:139067151 [GRCh37]
Chr3:3q23
pathogenic
GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3 copy number gain not provided [RCV000682308] Chr3:138023193..140565017 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3q22.3-23(chr3:138525030-139146538)x1 copy number loss not provided [RCV000682310] Chr3:138525030..139146538 [GRCh37]
Chr3:3q22.3-23
pathogenic
NM_020191.3(MRPS22):c.508C>T (p.Arg170Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 1 [RCV000714744] Chr3:139350182 [GRCh38]
Chr3:139069024 [GRCh37]
Chr3:3q23
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24
pathogenic
NM_020191.3(MRPS22):c.1032_1035dup (p.Leu346fs) duplication Abnormality of metabolism/homeostasis [RCV001197161]|Combined oxidative phosphorylation deficiency 5 [RCV000778679] Chr3:139356962..139356963 [GRCh38]
Chr3:139075804..139075805 [GRCh37]
Chr3:3q23
pathogenic|uncertain significance
NM_020191.4(MRPS22):c.666C>T (p.Asp222=) single nucleotide variant not provided [RCV000923741] Chr3:139350994 [GRCh38]
Chr3:139069836 [GRCh37]
Chr3:3q23
likely benign
NM_020191.4(MRPS22):c.93C>G (p.Pro31=) single nucleotide variant not provided [RCV000927488] Chr3:139344119 [GRCh38]
Chr3:139062961 [GRCh37]
Chr3:3q23
likely benign
NM_020191.3(MRPS22):c.732+210A>G single nucleotide variant not provided [RCV000837582] Chr3:139351270 [GRCh38]
Chr3:139070112 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.172+79G>A single nucleotide variant not provided [RCV000835747] Chr3:139344277 [GRCh38]
Chr3:139063119 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.504+92C>T single nucleotide variant not provided [RCV000835748] Chr3:139348416 [GRCh38]
Chr3:139067258 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.649-126C>A single nucleotide variant not provided [RCV000835749] Chr3:139350851 [GRCh38]
Chr3:139069693 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.523A>G (p.Arg175Gly) single nucleotide variant not provided [RCV000797823] Chr3:139350197 [GRCh38]
Chr3:139069039 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.504+217A>G single nucleotide variant not provided [RCV000838173] Chr3:139348541 [GRCh38]
Chr3:139067383 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.649-295del deletion not provided [RCV000842775] Chr3:139350682 [GRCh38]
Chr3:139069524 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.879-330T>A single nucleotide variant not provided [RCV000830532] Chr3:139355352 [GRCh38]
Chr3:139074194 [GRCh37]
Chr3:3q23
benign
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23
uncertain significance
NM_020191.3(MRPS22):c.173-291G>A single nucleotide variant not provided [RCV000830527] Chr3:139346587 [GRCh38]
Chr3:139065429 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.733-262C>G single nucleotide variant not provided [RCV000830529] Chr3:139352385 [GRCh38]
Chr3:139071227 [GRCh37]
Chr3:3q23
benign
NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001148882] Chr3:139344192 [GRCh38]
Chr3:139063034 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.3(MRPS22):c.988-33A>G single nucleotide variant not provided [RCV000830906] Chr3:139356886 [GRCh38]
Chr3:139075728 [GRCh37]
Chr3:3q23
benign
NM_020191.3(MRPS22):c.649-250T>C single nucleotide variant not provided [RCV000837712] Chr3:139350727 [GRCh38]
Chr3:139069569 [GRCh37]
Chr3:3q23
benign
NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly) single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001148881] Chr3:139344090 [GRCh38]
Chr3:139062932 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.4(MRPS22):c.27G>C (p.Leu9Phe) single nucleotide variant not provided [RCV000886483] Chr3:139344053 [GRCh38]
Chr3:139062895 [GRCh37]
Chr3:3q23
benign
NM_020191.4(MRPS22):c.172+7G>T single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001148883]|not provided [RCV000920129] Chr3:139344205 [GRCh38]
Chr3:139063047 [GRCh37]
Chr3:3q23
likely benign|uncertain significance
NM_020191.4(MRPS22):c.878+13T>C single nucleotide variant Combined oxidative phosphorylation deficiency 5 [RCV001144322] Chr3:139352805 [GRCh38]
Chr3:139071647 [GRCh37]
Chr3:3q23
uncertain significance
NM_020191.4(MRPS22):c.938C>A (p.Ser313Ter) single nucleotide variant not provided [RCV001171572] Chr3:139355741 [GRCh38]
Chr3:139074583 [GRCh37]
Chr3:3q23
likely pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q23(chr3:138737687-142053396)x1 copy number loss not provided [RCV001259239] Chr3:138737687..142053396 [GRCh37]
Chr3:3q23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14508 AgrOrtholog
COSMIC MRPS22 COSMIC
Ensembl Genes ENSG00000175110 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000310785 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417104 UniProtKB/TrEMBL
  ENSP00000418008 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418233 UniProtKB/TrEMBL
  ENSP00000419303 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000419737 UniProtKB/TrEMBL
  ENSP00000419920 UniProtKB/TrEMBL
  ENSP00000420229 UniProtKB/TrEMBL
  ENSP00000420482 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000310776 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000465056 UniProtKB/TrEMBL
  ENST00000465373 UniProtKB/TrEMBL
  ENST00000466690 UniProtKB/TrEMBL
  ENST00000478464 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000480644 UniProtKB/TrEMBL
  ENST00000495075 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000495225 UniProtKB/TrEMBL
  ENST00000498505 UniProtKB/Swiss-Prot
GTEx ENSG00000175110 GTEx
HGNC ID HGNC:14508 ENTREZGENE
Human Proteome Map MRPS22 Human Proteome Map
InterPro Ribosomal_S22_mit UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56945 UniProtKB/Swiss-Prot
NCBI Gene 56945 ENTREZGENE
OMIM 605810 OMIM
  611719 OMIM
  618117 OMIM
PANTHER PTHR13071 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MRP-S22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31010 PharmGKB
UniGene Hs.745001 ENTREZGENE
UniProt C9J5D8_HUMAN UniProtKB/TrEMBL
  G5E9V5_HUMAN UniProtKB/TrEMBL
  G5E9W7_HUMAN UniProtKB/TrEMBL
  H7C5F2_HUMAN UniProtKB/TrEMBL
  H7C5H3_HUMAN UniProtKB/TrEMBL
  H7C5L9_HUMAN UniProtKB/TrEMBL
  P82650 ENTREZGENE
  Q96Q16_HUMAN UniProtKB/TrEMBL
  RT22_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9H3I1 UniProtKB/Swiss-Prot