MOS (MOS proto-oncogene, serine/threonine kinase) - Rat Genome Database

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Gene: MOS (MOS proto-oncogene, serine/threonine kinase) Homo sapiens
Analyze
Symbol: MOS
Name: MOS proto-oncogene, serine/threonine kinase
RGD ID: 735699
HGNC Page HGNC:7199
Description: Predicted to enable MAP kinase kinase kinase activity. Involved in oocyte maturation and positive regulation of ERK1 and ERK2 cascade. Located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: c-mos; MGC119962; MGC119963; MSV; oncogene MOS, Moloney murine sarcoma virus; oocyte maturation factor mos; OZEMA20; proto-oncogene c-Mos; proto-oncogene serine/threonine-protein kinase mos; v-mos Moloney murine sarcoma viral oncogene homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,112,942 - 56,113,982 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,112,942 - 56,113,982 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,025,501 - 57,026,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,188,055 - 57,189,095 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,188,054 - 57,189,095NCBI
Celera853,016,252 - 53,017,292 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,492,986 - 52,494,026 (-)NCBIHuRef
CHM1_1857,077,104 - 57,078,144 (-)NCBICHM1_1
T2T-CHM13v2.0856,489,918 - 56,490,958 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation. Zhang YL, etal., EMBO Mol Med. 2021 Dec 7;13(12):e14887. doi: 10.15252/emmm.202114887. Epub 2021 Nov 15.
Additional References at PubMed
PMID:3000766   PMID:6287464   PMID:7540181   PMID:9001211   PMID:9008413   PMID:9552420   PMID:10376524   PMID:10439036   PMID:11180847   PMID:12022922   PMID:12477932   PMID:15188402  
PMID:15341746   PMID:15489334   PMID:16401344   PMID:17207965   PMID:17410130   PMID:17474147   PMID:18187620   PMID:18246541   PMID:18391951   PMID:18550795   PMID:20186124   PMID:20546612  
PMID:21516116   PMID:21873635   PMID:22252584   PMID:22939624   PMID:23595635   PMID:24163370   PMID:25036637   PMID:25416956   PMID:25512530   PMID:26186194   PMID:26598620   PMID:28514442  
PMID:29892012   PMID:30415952   PMID:30886144   PMID:31515488   PMID:31586073   PMID:31952546   PMID:32296183   PMID:32707033   PMID:33961781   PMID:34997960   PMID:35156780   PMID:35670744  
PMID:36403623  


Genomics

Comparative Map Data
MOS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,112,942 - 56,113,982 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,112,942 - 56,113,982 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,025,501 - 57,026,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,188,055 - 57,189,095 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,188,054 - 57,189,095NCBI
Celera853,016,252 - 53,017,292 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,492,986 - 52,494,026 (-)NCBIHuRef
CHM1_1857,077,104 - 57,078,144 (-)NCBICHM1_1
T2T-CHM13v2.0856,489,918 - 56,490,958 (-)NCBIT2T-CHM13v2.0
Mos
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3943,870,658 - 3,872,105 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl43,870,657 - 3,872,105 (-)EnsemblGRCm39 Ensembl
GRCm3843,870,658 - 3,872,105 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl43,870,657 - 3,872,105 (-)EnsemblGRCm38mm10GRCm38
MGSCv3743,797,805 - 3,799,252 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3643,797,930 - 3,799,104 (-)NCBIMGSCv36mm8
Celera43,827,056 - 3,828,607 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map42.16NCBI
Mos
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8521,657,549 - 21,658,856 (-)NCBIGRCr8
mRatBN7.2516,859,957 - 16,861,264 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl516,859,957 - 16,861,264 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx519,101,026 - 19,102,333 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0520,699,515 - 20,700,822 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0520,451,008 - 20,452,315 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0516,746,085 - 16,747,392 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl516,746,197 - 16,747,222 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0521,526,047 - 21,527,345 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4517,158,906 - 17,160,204 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1517,157,660 - 17,160,891 (-)NCBI
Celera516,224,269 - 16,225,576 (-)NCBICelera
Cytogenetic Map5q12NCBI
Mos
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545415,193,132 - 15,194,268 (-)NCBIChiLan1.0ChiLan1.0
MOS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2771,770,387 - 71,771,734 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1847,494,891 - 47,496,185 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0852,559,066 - 52,560,362 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1849,930,077 - 49,931,117 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl849,930,077 - 49,931,117 (-)Ensemblpanpan1.1panPan2
MOS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1297,510,987 - 7,513,180 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha297,823,723 - 7,826,339 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0297,585,329 - 7,589,193 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl297,585,443 - 7,586,489 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1297,599,834 - 7,602,449 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0297,731,622 - 7,735,488 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0298,008,489 - 8,012,354 (-)NCBIUU_Cfam_GSD_1.0
Mos
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530372,020,606 - 72,021,655 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364962,763,822 - 2,764,871 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364962,763,822 - 2,764,871 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MOS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl475,739,402 - 75,741,076 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1475,739,402 - 75,741,076 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2482,657,132 - 82,658,806 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MOS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1852,150,113 - 52,152,390 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl852,150,237 - 52,151,274 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603989,647,409 - 89,648,911 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mos
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248863,934,192 - 3,935,220 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248863,934,081 - 3,935,341 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MOS
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1
pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1 copy number loss See cases [RCV000135764] Chr8:53996579..56163431 [GRCh38]
Chr8:54909139..57075990 [GRCh37]
Chr8:55071692..57238544 [NCBI36]
Chr8:8q11.23-12.1
likely pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3
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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2
pathogenic
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 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 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 8q12.1(chr8:54764950-56785299)x1 copy number loss See cases [RCV000142992] Chr8:54764950..56785299 [GRCh38]
Chr8:55677510..57697858 [GRCh37]
Chr8:55840064..57860412 [NCBI36]
Chr8:8q12.1
pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1
pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3
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
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3
pathogenic
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1 copy number loss See cases [RCV000240504] Chr8:56405320..57358911 [GRCh37]
Chr8:8q12.1
likely pathogenic
GRCh37/hg19 8q12.1(chr8:56806172-57128944)x3 copy number gain See cases [RCV000446388] Chr8:56806172..57128944 [GRCh37]
Chr8:8q12.1
likely benign
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 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1
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 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005372.1(MOS):c.299G>A (p.Arg100Gln) single nucleotide variant not specified [RCV004328513] Chr8:56113684 [GRCh38]
Chr8:57026243 [GRCh37]
Chr8:8q12.1
likely benign
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 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 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 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1
pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
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
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
NM_005372.1(MOS):c.146G>T (p.Arg49Leu) single nucleotide variant not specified [RCV004290833] Chr8:56113837 [GRCh38]
Chr8:57026396 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.349A>G (p.Ile117Val) single nucleotide variant not provided [RCV004809389] Chr8:56113634 [GRCh38]
Chr8:57026193 [GRCh37]
Chr8:8q12.1
uncertain significance
NC_000008.10:g.(?_56854419)_(57906144_?)dup duplication not provided [RCV002020622] Chr8:56854419..57906144 [GRCh37]
Chr8:8q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005372.1(MOS):c.1019C>G (p.Ser340Cys) single nucleotide variant not specified [RCV004170210] Chr8:56112964 [GRCh38]
Chr8:57025523 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.972C>T (p.Ser324=) single nucleotide variant not provided [RCV002512357] Chr8:56113011 [GRCh38]
Chr8:57025570 [GRCh37]
Chr8:8q12.1
likely benign
NM_005372.1(MOS):c.124C>T (p.Arg42Trp) single nucleotide variant not specified [RCV004072734] Chr8:56113859 [GRCh38]
Chr8:57026418 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.531G>T (p.Lys177Asn) single nucleotide variant not specified [RCV004175687] Chr8:56113452 [GRCh38]
Chr8:57026011 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.1010A>C (p.Asp337Ala) single nucleotide variant not specified [RCV004132301] Chr8:56112973 [GRCh38]
Chr8:57025532 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.830C>A (p.Ala277Glu) single nucleotide variant not specified [RCV004194298] Chr8:56113153 [GRCh38]
Chr8:57025712 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.929G>A (p.Gly310Glu) single nucleotide variant not specified [RCV004140164] Chr8:56113054 [GRCh38]
Chr8:57025613 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.416T>C (p.Met139Thr) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228745] Chr8:56113567 [GRCh38]
Chr8:57026126 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.960C>A (p.Cys320Ter) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228748] Chr8:56113023 [GRCh38]
Chr8:57025582 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.596A>T (p.His199Leu) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228752] Chr8:56113387 [GRCh38]
Chr8:57025946 [GRCh37]
Chr8:8q12.1
pathogenic|uncertain significance
NM_005372.1(MOS):c.737G>A (p.Arg246His) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228746] Chr8:56113246 [GRCh38]
Chr8:57025805 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.701C>A (p.Thr234Lys) single nucleotide variant not specified [RCV004279994] Chr8:56113282 [GRCh38]
Chr8:57025841 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.539A>C (p.Lys180Thr) single nucleotide variant not specified [RCV004270544] Chr8:56113444 [GRCh38]
Chr8:57026003 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.467del (p.Gly156fs) deletion Oocyte/zygote/embryo maturation arrest 20 [RCV003228749] Chr8:56113516 [GRCh38]
Chr8:57026075 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.956G>A (p.Arg319His) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228750] Chr8:56113027 [GRCh38]
Chr8:57025586 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.791C>G (p.Ser264Cys) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228751] Chr8:56113192 [GRCh38]
Chr8:57025751 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.285C>A (p.Asn95Lys) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228744] Chr8:56113698 [GRCh38]
Chr8:57026257 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.875C>T (p.Ala292Val) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228747] Chr8:56113108 [GRCh38]
Chr8:57025667 [GRCh37]
Chr8:8q12.1
pathogenic|uncertain significance
NM_005372.1(MOS):c.591T>G (p.Ile197Met) single nucleotide variant Oocyte/zygote/embryo maturation arrest 20 [RCV003228753] Chr8:56113392 [GRCh38]
Chr8:57025951 [GRCh37]
Chr8:8q12.1
pathogenic
NM_005372.1(MOS):c.366T>A (p.Ala122=) single nucleotide variant not provided [RCV003423925] Chr8:56113617 [GRCh38]
Chr8:57026176 [GRCh37]
Chr8:8q12.1
likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005372.1(MOS):c.982A>G (p.Arg328Gly) single nucleotide variant not specified [RCV004495420] Chr8:56113001 [GRCh38]
Chr8:57025560 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.35G>T (p.Arg12Leu) single nucleotide variant not specified [RCV004643365] Chr8:56113948 [GRCh38]
Chr8:57026507 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.460G>A (p.Ala154Thr) single nucleotide variant not specified [RCV004629066] Chr8:56113523 [GRCh38]
Chr8:57026082 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.959G>T (p.Cys320Phe) single nucleotide variant not specified [RCV004629068] Chr8:56113024 [GRCh38]
Chr8:57025583 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.859C>G (p.Leu287Val) single nucleotide variant not specified [RCV004643367] Chr8:56113124 [GRCh38]
Chr8:57025683 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.218C>T (p.Ser73Leu) single nucleotide variant not specified [RCV004643366] Chr8:56113765 [GRCh38]
Chr8:57026324 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.736C>A (p.Arg246Ser) single nucleotide variant not specified [RCV004824686] Chr8:56113247 [GRCh38]
Chr8:57025806 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.731C>A (p.Thr244Asn) single nucleotide variant not specified [RCV004828395] Chr8:56113252 [GRCh38]
Chr8:57025811 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.53C>T (p.Ser18Leu) single nucleotide variant not specified [RCV004828396] Chr8:56113930 [GRCh38]
Chr8:57026489 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.743C>T (p.Pro248Leu) single nucleotide variant not specified [RCV004824687] Chr8:56113240 [GRCh38]
Chr8:57025799 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_005372.1(MOS):c.470A>G (p.His157Arg) single nucleotide variant not specified [RCV004828397] Chr8:56113513 [GRCh38]
Chr8:57026072 [GRCh37]
Chr8:8q12.1
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:40
Count of miRNA genes:40
Interacting mature miRNAs:40
Transcripts:ENST00000311923
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human

Markers in Region
RH17579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,025,679 - 57,025,884UniSTSGRCh37
Build 36857,188,233 - 57,188,438RGDNCBI36
Celera853,016,430 - 53,016,635RGD
Cytogenetic Map8q11UniSTS
HuRef852,493,164 - 52,493,369UniSTS
GeneMap99-GB4 RH Map8314.95UniSTS
NCBI RH Map8785.4UniSTS
GDB:386777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,026,024 - 57,026,226UniSTSGRCh37
Build 36857,188,578 - 57,188,780RGDNCBI36
Celera853,016,775 - 53,016,977RGD
Cytogenetic Map8q11UniSTS
HuRef852,493,509 - 52,493,711UniSTS
MOS__6333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,025,404 - 57,026,287UniSTSGRCh37
Build 36857,187,958 - 57,188,841RGDNCBI36
Celera853,016,155 - 53,017,038RGD
HuRef852,492,889 - 52,493,772UniSTS
MOS  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,026,218 - 57,026,374UniSTSGRCh37
Build 36857,188,772 - 57,188,928RGDNCBI36
Celera853,016,969 - 53,017,125RGD
HuRef852,493,703 - 52,493,859UniSTS
UniSTS:481735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,025,501 - 57,026,541UniSTSGRCh37
Celera853,016,252 - 53,017,292UniSTS
HuRef852,492,986 - 52,494,026UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
99 248 218 139 1635 132 160 20 134 13 312 474 487 9 1430 51 543 128 7

Sequence


Ensembl Acc Id: ENST00000311923   ⟹   ENSP00000310722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,112,942 - 56,113,982 (-)Ensembl
RefSeq Acc Id: NM_005372   ⟹   NP_005363
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,112,942 - 56,113,982 (-)NCBI
GRCh37857,025,501 - 57,026,541 (-)ENTREZGENE
Build 36857,188,055 - 57,189,095 (-)NCBI Archive
HuRef852,492,986 - 52,494,026 (-)ENTREZGENE
CHM1_1857,077,104 - 57,078,144 (-)NCBI
T2T-CHM13v2.0856,489,918 - 56,490,958 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005363   ⟸   NM_005372
- UniProtKB: Q3KPG9 (UniProtKB/Swiss-Prot),   Q3KPH0 (UniProtKB/Swiss-Prot),   P00540 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000310722   ⟸   ENST00000311923
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00540-F1-model_v2 AlphaFold P00540 1-346 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7199 AgrOrtholog
COSMIC MOS COSMIC
Ensembl Genes ENSG00000172680 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311923 ENTREZGENE
  ENST00000311923.1 UniProtKB/Swiss-Prot
Gene3D-CATH Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000172680 GTEx
HGNC ID HGNC:7199 ENTREZGENE
Human Proteome Map MOS Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
  Ser/Thr_Kinases-Pseudokinases UniProtKB/Swiss-Prot
KEGG Report hsa:4342 UniProtKB/Swiss-Prot
NCBI Gene 4342 ENTREZGENE
OMIM 190060 OMIM
PANTHER SERINE/THREONINE-PROTEIN KINASE TNNI3K-RELATED UniProtKB/Swiss-Prot
  V-MOS MOLONEY MURINE SARCOMA VIRAL ONCO HOMOLOG UniProtKB/Swiss-Prot
Pfam Pkinase UniProtKB/Swiss-Prot
PharmGKB PA30907 PharmGKB
PIRSF Integrin-linked_kinase UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt MOS_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3KPG9 ENTREZGENE
  Q3KPH0 ENTREZGENE
UniProt Secondary Q3KPG9 UniProtKB/Swiss-Prot
  Q3KPH0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-13 MOS  MOS proto-oncogene, serine/threonine kinase  MOS  v-mos Moloney murine sarcoma viral oncogene homolog  Symbol and/or name change 5135510 APPROVED