PTMA (prothymosin alpha) - Rat Genome Database

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Gene: PTMA (prothymosin alpha) Homo sapiens
Analyze
Symbol: PTMA
Name: prothymosin alpha
RGD ID: 733876
HGNC Page HGNC:9623
Description: Enables DNA-binding transcription factor binding activity and histone binding activity. Involved in negative regulation of apoptotic process. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: gene sequence 28; MGC104802; prothymosin, alpha; prothymosin, alpha (gene sequence 28); prothymosin-I+/-; TMSA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PTMAP1   PTMAP10   PTMAP11   PTMAP12   PTMAP13   PTMAP14   PTMAP15   PTMAP2   PTMAP3   PTMAP4   PTMAP5   PTMAP6   PTMAP7   PTMAP8   PTMAP9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382231,708,525 - 231,713,551 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2231,706,895 - 231,713,551 (+)EnsemblGRCh38hg38GRCh38
GRCh372232,573,235 - 232,578,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362232,281,479 - 232,286,495 (+)NCBINCBI36Build 36hg18NCBI36
Build 342232,398,740 - 232,403,754NCBI
Celera2226,349,751 - 226,354,767 (+)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2224,415,419 - 224,421,126 (+)NCBIHuRef
CHM1_12232,579,058 - 232,584,074 (+)NCBICHM1_1
T2T-CHM13v2.02232,193,095 - 232,198,121 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3',5'-cyclic AMP  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroform  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (ISO)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
diuron  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fipronil  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fructose  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glutathione  (EXP,ISO)
haloperidol  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
N-nitrosodiethylamine  (ISO)
naloxone  (ISO)
nickel sulfate  (EXP)
O-acetyl-L-carnitine  (ISO)
ochratoxin A  (ISO)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
quinidine  (ISO)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulfadimethoxine  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetraphene  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
triadimefon  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tubocurarine  (EXP)
uranium atom  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vandetanib  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cellular_component  (ND)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1426245   PMID:1545115   PMID:1612591   PMID:1632187   PMID:1814846   PMID:2209614   PMID:2708378   PMID:2785990   PMID:3466166   PMID:3467312   PMID:3474615   PMID:3532956  
PMID:7588773   PMID:7913591   PMID:7916742   PMID:8125298   PMID:8415730   PMID:8485135   PMID:8592501   PMID:8814229   PMID:8886855   PMID:9099694   PMID:9334214   PMID:10675528  
PMID:10854063   PMID:10891508   PMID:10938099   PMID:11282171   PMID:11310559   PMID:11528108   PMID:11727831   PMID:11759895   PMID:11897665   PMID:11967287   PMID:12062405   PMID:12477932  
PMID:12522243   PMID:12634383   PMID:12943695   PMID:15242774   PMID:15325071   PMID:15489334   PMID:15556635   PMID:15607035   PMID:15657435   PMID:15861128   PMID:16341674   PMID:16353248  
PMID:16478804   PMID:16628001   PMID:16669873   PMID:16940531   PMID:17012289   PMID:17046193   PMID:17081983   PMID:17188166   PMID:17876542   PMID:17929838   PMID:18029348   PMID:18240569  
PMID:18391951   PMID:18856068   PMID:18976813   PMID:19322201   PMID:19650074   PMID:20121050   PMID:20430720   PMID:20977946   PMID:21044950   PMID:21573209   PMID:21873635   PMID:21954601  
PMID:22059741   PMID:22110140   PMID:22125611   PMID:22463375   PMID:22609059   PMID:22863883   PMID:22939629   PMID:23151878   PMID:23318954   PMID:23359453   PMID:23376485   PMID:23398456  
PMID:23568457   PMID:23602568   PMID:23695700   PMID:23857453   PMID:23859021   PMID:24705354   PMID:24733561   PMID:24981860   PMID:25197357   PMID:25404520   PMID:25416956   PMID:25556234  
PMID:25582950   PMID:26344197   PMID:26348351   PMID:26496610   PMID:26618866   PMID:26638075   PMID:27310139   PMID:27684187   PMID:28581483   PMID:28700943   PMID:29106904   PMID:29117863  
PMID:29128334   PMID:29298432   PMID:29466338   PMID:29845934   PMID:29872149   PMID:30430826   PMID:30719818   PMID:30824926   PMID:30890647   PMID:30927234   PMID:31180492   PMID:31325636  
PMID:31436131   PMID:31536960   PMID:31753913   PMID:32129710   PMID:32203420   PMID:32296183   PMID:32513696   PMID:32909608   PMID:32941674   PMID:33729478   PMID:33838681   PMID:33872798  
PMID:33916271   PMID:34299191   PMID:34316702   PMID:34349018   PMID:34439840   PMID:34558643   PMID:34901782   PMID:35140242   PMID:35157519   PMID:35271311   PMID:35563538   PMID:35831314  
PMID:35944360   PMID:36114006   PMID:36339263   PMID:36517590   PMID:36811957   PMID:37506885   PMID:37531416  


Genomics

Comparative Map Data
PTMA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382231,708,525 - 231,713,551 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2231,706,895 - 231,713,551 (+)EnsemblGRCh38hg38GRCh38
GRCh372232,573,235 - 232,578,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362232,281,479 - 232,286,495 (+)NCBINCBI36Build 36hg18NCBI36
Build 342232,398,740 - 232,403,754NCBI
Celera2226,349,751 - 226,354,767 (+)NCBICelera
Cytogenetic Map2q37.1NCBI
HuRef2224,415,419 - 224,421,126 (+)NCBIHuRef
CHM1_12232,579,058 - 232,584,074 (+)NCBICHM1_1
T2T-CHM13v2.02232,193,095 - 232,198,121 (+)NCBIT2T-CHM13v2.0
Ptma
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39186,454,442 - 86,458,434 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl186,454,448 - 86,458,434 (+)EnsemblGRCm39 Ensembl
GRCm38186,526,557 - 86,530,712 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl186,526,726 - 86,530,712 (+)EnsemblGRCm38mm10GRCm38
MGSCv37188,423,311 - 88,427,273 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36188,357,907 - 88,361,869 (+)NCBIMGSCv36mm8
Celera189,496,434 - 89,500,314 (+)NCBICelera
Cytogenetic Map1C5NCBI
cM Map143.96NCBI
Ptma
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8994,624,194 - 94,628,276 (+)NCBIGRCr8
mRatBN7.2987,176,251 - 87,180,333 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl987,176,230 - 87,180,333 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx995,593,165 - 95,597,249 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09100,722,287 - 100,726,371 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0999,104,565 - 99,108,647 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0993,545,396 - 93,549,436 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl993,545,396 - 93,549,436 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0993,273,333 - 93,277,373 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4985,291,203 - 85,295,242 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1985,474,621 - 85,478,661 (+)NCBI
Celera984,591,345 - 84,595,385 (+)NCBICelera
Cytogenetic Map9q35NCBI
Ptma
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554534,036,503 - 4,037,788 (-)NCBIChiLan1.0ChiLan1.0
PTMA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213134,329,362 - 134,335,272 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B134,344,327 - 134,350,223 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B118,959,382 - 118,964,364 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B237,746,118 - 237,750,806 (+)NCBIpanpan1.1PanPan1.1panPan2
PTMA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12543,563,145 - 43,567,987 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2543,562,395 - 43,675,699 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2544,056,313 - 44,061,150 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02543,818,611 - 43,823,463 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2543,817,860 - 43,823,463 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12543,746,908 - 43,751,731 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02543,590,250 - 43,595,085 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02543,745,404 - 43,750,240 (+)NCBIUU_Cfam_GSD_1.0
Ptma
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303185,679,168 - 185,685,998 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365255,253,723 - 5,258,300 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTMA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15132,355,655 - 132,361,435 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115132,353,763 - 132,361,442 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PTMA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110117,721,097 - 117,722,065 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604081,712,038 - 81,716,974 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptma
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248434,728,963 - 4,732,839 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248434,728,963 - 4,732,659 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTMA
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 copy number gain See cases [RCV000136967] Chr2:228014149..234976424 [GRCh38]
Chr2:228878865..235885068 [GRCh37]
Chr2:228587109..235549807 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
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 2q37.1(chr2:232215111-235593473)x1 copy number loss See cases [RCV000446723] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1
likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
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 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
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
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
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
GRCh37/hg19 2q37.1(chr2:232550626-233171039)x1 copy number loss not provided [RCV000740949] Chr2:232550626..233171039 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q37.1(chr2:232550626-232968158)x3 copy number gain See cases [RCV000790573] Chr2:232550626..232968158 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q37.1(chr2:232215111-235593473) copy number loss not specified [RCV002053294] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1
likely pathogenic
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) copy number loss not specified [RCV002053291] Chr2:228807574..235475892 [GRCh37]
Chr2:2q36.3-37.1
pathogenic
NC_000002.11:g.(?_231033840)_(234978657_?)dup duplication Joubert syndrome 22 [RCV001877690]|Perlman syndrome [RCV001877689] Chr2:231033840..234978657 [GRCh37]
Chr2:2q37.1
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_002823.5(PTMA):c.92G>C (p.Arg31Thr) single nucleotide variant not specified [RCV004098190] Chr2:231711394 [GRCh38]
Chr2:232576104 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_002823.5(PTMA):c.85A>G (p.Asn29Asp) single nucleotide variant not specified [RCV004184485] Chr2:231711387 [GRCh38]
Chr2:232576097 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_002823.5(PTMA):c.319G>A (p.Asp107Asn) single nucleotide variant not specified [RCV004225362] Chr2:231712837 [GRCh38]
Chr2:232577547 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_002823.5(PTMA):c.33A>C (p.Glu11Asp) single nucleotide variant not specified [RCV004273547] Chr2:231708739 [GRCh38]
Chr2:232573449 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_002823.5(PTMA):c.159C>A (p.Asp53Glu) single nucleotide variant not specified [RCV004264340] Chr2:231711931 [GRCh38]
Chr2:232576641 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3 copy number gain See cases [RCV003320003] Chr2:232563726..234136887 [GRCh37]
Chr2:2q37.1
uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 copy number gain not provided [RCV003484091] Chr2:225995545..237594511 [GRCh37]
Chr2:2q36.2-37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoImmunoblot//Immunofluorescence//ImmunoprecipitaionFunctional MTI22210864
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22059741
MIR1-1hsa-miR-1OncomiRDBexternal_infoNANA22378464
MIR1-1hsa-miR-1OncomiRDBexternal_infoNANA22059741

Predicted Target Of
Summary Value
Count of predictions:2522
Count of miRNA genes:795
Interacting mature miRNAs:952
Transcripts:ENST00000341369, ENST00000409115, ENST00000409321, ENST00000409683, ENST00000410064, ENST00000412128, ENST00000440384, ENST00000448874, ENST00000466801, ENST00000467816, ENST00000468027, ENST00000481928
Prediction methods:Microtar, 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.

Markers in Region
G42925  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map9q22.32UniSTS


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 180 504 180 17 462 19 914 36 140 66 326 409 9 135 502
Medium 2252 2479 1543 605 1485 445 3441 2157 3568 352 1122 1199 162 1069 2286 4
Low 6 7 3 2 4 1 2 26 1 12 4 4 1 2 2
Below cutoff 1 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001099285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF348514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF452640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY169282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM839980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S56449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000341369   ⟹   ENSP00000344547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,708,516 - 231,713,536 (+)Ensembl
RefSeq Acc Id: ENST00000409115   ⟹   ENSP00000386819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,708,525 - 231,713,551 (+)Ensembl
RefSeq Acc Id: ENST00000409321   ⟹   ENSP00000386645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,707,684 - 231,713,108 (+)Ensembl
RefSeq Acc Id: ENST00000409683   ⟹   ENSP00000386519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,708,536 - 231,713,289 (+)Ensembl
RefSeq Acc Id: ENST00000410064   ⟹   ENSP00000387102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,709,781 - 231,712,856 (+)Ensembl
RefSeq Acc Id: ENST00000412128   ⟹   ENSP00000406903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,710,427 - 231,713,268 (+)Ensembl
RefSeq Acc Id: ENST00000440384   ⟹   ENSP00000392732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,710,491 - 231,711,383 (+)Ensembl
RefSeq Acc Id: ENST00000448874   ⟹   ENSP00000400406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,707,630 - 231,713,465 (+)Ensembl
RefSeq Acc Id: ENST00000466801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,706,895 - 231,713,013 (+)Ensembl
RefSeq Acc Id: ENST00000467816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,711,131 - 231,711,978 (+)Ensembl
RefSeq Acc Id: ENST00000468027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,708,530 - 231,712,675 (+)Ensembl
RefSeq Acc Id: ENST00000481928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2231,708,530 - 231,713,506 (+)Ensembl
RefSeq Acc Id: NM_001099285   ⟹   NP_001092755
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,708,525 - 231,713,551 (+)NCBI
GRCh372232,573,235 - 232,578,251 (+)ENTREZGENE
Build 362232,281,479 - 232,286,495 (+)NCBI Archive
HuRef2224,415,419 - 224,421,126 (+)ENTREZGENE
CHM1_12232,579,058 - 232,584,074 (+)NCBI
T2T-CHM13v2.02232,193,095 - 232,198,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002823   ⟹   NP_002814
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382231,708,525 - 231,713,551 (+)NCBI
GRCh372232,573,235 - 232,578,251 (+)ENTREZGENE
Build 362232,281,479 - 232,286,495 (+)NCBI Archive
HuRef2224,415,419 - 224,421,126 (+)ENTREZGENE
CHM1_12232,579,058 - 232,584,074 (+)NCBI
T2T-CHM13v2.02232,193,095 - 232,198,121 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001092755 (Get FASTA)   NCBI Sequence Viewer  
  NP_002814 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60213 (Get FASTA)   NCBI Sequence Viewer  
  AAA61182 (Get FASTA)   NCBI Sequence Viewer  
  AAA61183 (Get FASTA)   NCBI Sequence Viewer  
  AAA61184 (Get FASTA)   NCBI Sequence Viewer  
  AAA63239 (Get FASTA)   NCBI Sequence Viewer  
  AAA63240 (Get FASTA)   NCBI Sequence Viewer  
  AAB08706 (Get FASTA)   NCBI Sequence Viewer  
  AAB08709 (Get FASTA)   NCBI Sequence Viewer  
  AAD13882 (Get FASTA)   NCBI Sequence Viewer  
  AAH03510 (Get FASTA)   NCBI Sequence Viewer  
  AAH22433 (Get FASTA)   NCBI Sequence Viewer  
  AAH34921 (Get FASTA)   NCBI Sequence Viewer  
  AAH51265 (Get FASTA)   NCBI Sequence Viewer  
  AAH66905 (Get FASTA)   NCBI Sequence Viewer  
  AAH70480 (Get FASTA)   NCBI Sequence Viewer  
  AAH71647 (Get FASTA)   NCBI Sequence Viewer  
  AAH71879 (Get FASTA)   NCBI Sequence Viewer  
  AAH98420 (Get FASTA)   NCBI Sequence Viewer  
  AAK30146 (Get FASTA)   NCBI Sequence Viewer  
  AAO18189 (Get FASTA)   NCBI Sequence Viewer  
  AAP97694 (Get FASTA)   NCBI Sequence Viewer  
  AAY24150 (Get FASTA)   NCBI Sequence Viewer  
  BAD97325 (Get FASTA)   NCBI Sequence Viewer  
  BAG36799 (Get FASTA)   NCBI Sequence Viewer  
  EAW70969 (Get FASTA)   NCBI Sequence Viewer  
  EAW70970 (Get FASTA)   NCBI Sequence Viewer  
  EAW70971 (Get FASTA)   NCBI Sequence Viewer  
  EAW70972 (Get FASTA)   NCBI Sequence Viewer  
  EAW70973 (Get FASTA)   NCBI Sequence Viewer  
  EAW70974 (Get FASTA)   NCBI Sequence Viewer  
  EAW70975 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344547
  ENSP00000344547.7
  ENSP00000386519.1
  ENSP00000386645.1
  ENSP00000386819
  ENSP00000386819.3
  ENSP00000387102.1
  ENSP00000392732.1
  ENSP00000400406.1
  ENSP00000406903.1
GenBank Protein P06454 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001092755   ⟸   NM_001099285
- Peptide Label: isoform 1
- UniProtKB: Q15249 (UniProtKB/Swiss-Prot),   Q15592 (UniProtKB/Swiss-Prot),   P06454 (UniProtKB/Swiss-Prot),   Q86YS2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002814   ⟸   NM_002823
- Peptide Label: isoform 2
- UniProtKB: Q53S24 (UniProtKB/TrEMBL),   Q86YS2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000387102   ⟸   ENST00000410064
RefSeq Acc Id: ENSP00000406903   ⟸   ENST00000412128
RefSeq Acc Id: ENSP00000392732   ⟸   ENST00000440384
RefSeq Acc Id: ENSP00000344547   ⟸   ENST00000341369
RefSeq Acc Id: ENSP00000386519   ⟸   ENST00000409683
RefSeq Acc Id: ENSP00000386645   ⟸   ENST00000409321
RefSeq Acc Id: ENSP00000386819   ⟸   ENST00000409115
RefSeq Acc Id: ENSP00000400406   ⟸   ENST00000448874

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06454-F1-model_v2 AlphaFold P06454 1-111 view protein structure

Promoters
RGD ID:6863068
Promoter ID:EPDNEW_H4699
Type:initiation region
Name:PTMA_1
Description:prothymosin, alpha
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
GRCh382231,708,530 - 231,708,590EPDNEW
RGD ID:6797333
Promoter ID:HG_KWN:37714
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000409321,   OTTHUMT00000332575,   OTTHUMT00000332577
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,279,851 - 232,280,787 (+)MPROMDB
RGD ID:6797334
Promoter ID:HG_KWN:37715
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409115,   ENST00000409405,   ENST00000409683,   OTTHUMT00000332553,   OTTHUMT00000332554,   OTTHUMT00000332557
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,281,071 - 232,281,597 (+)MPROMDB
RGD ID:6851722
Promoter ID:EP73665
Type:multiple initiation site
Name:HS_PTMA
Description:Prothymosin, alpha (gene sequence 28).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,281,484 - 232,281,544EPD
RGD ID:6797360
Promoter ID:HG_KWN:37716
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358839,   ENST00000363197,   OTTHUMT00000332559,   OTTHUMT00000332560,   OTTHUMT00000332561,   UC002VSD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,282,066 - 232,284,347 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9623 AgrOrtholog
COSMIC PTMA COSMIC
Ensembl Genes ENSG00000187514 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341369 ENTREZGENE
  ENST00000341369.11 UniProtKB/Swiss-Prot
  ENST00000409115 ENTREZGENE
  ENST00000409115.8 UniProtKB/Swiss-Prot
  ENST00000409321.5 UniProtKB/TrEMBL
  ENST00000409683.5 UniProtKB/TrEMBL
  ENST00000410064.5 UniProtKB/TrEMBL
  ENST00000412128.1 UniProtKB/TrEMBL
  ENST00000440384.1 UniProtKB/TrEMBL
  ENST00000448874.5 UniProtKB/TrEMBL
GTEx ENSG00000187514 GTEx
HGNC ID HGNC:9623 ENTREZGENE
Human Proteome Map PTMA Human Proteome Map
InterPro Pro/parathymosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5757 UniProtKB/Swiss-Prot
NCBI Gene 5757 ENTREZGENE
OMIM 188390 OMIM
PANTHER PROTHYMOSIN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTHYMOSIN ALPHA UniProtKB/TrEMBL
  PTHR22745 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Prothymosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33966 PharmGKB
UniProt B8ZZA1_HUMAN UniProtKB/TrEMBL
  B8ZZQ6_HUMAN UniProtKB/TrEMBL
  B8ZZW7_HUMAN UniProtKB/TrEMBL
  F8WCE8_HUMAN UniProtKB/TrEMBL
  H7C031_HUMAN UniProtKB/TrEMBL
  H7C2N1_HUMAN UniProtKB/TrEMBL
  P06454 ENTREZGENE, UniProtKB/Swiss-Prot
  Q15249 ENTREZGENE
  Q15254_HUMAN UniProtKB/TrEMBL
  Q15592 ENTREZGENE
  Q53S24 ENTREZGENE, UniProtKB/TrEMBL
  Q7KZ52_HUMAN UniProtKB/TrEMBL
  Q86YS2 ENTREZGENE, UniProtKB/TrEMBL
  Q8TBK9_HUMAN UniProtKB/TrEMBL
  Q9NYD3_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q15249 UniProtKB/Swiss-Prot
  Q15592 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-01-30 PTMA  prothymosin alpha    prothymosin, alpha  Symbol and/or name change 5135510 APPROVED