DNAJA3 (DnaJ heat shock protein family (Hsp40) member A3) - Rat Genome Database

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Gene: DNAJA3 (DnaJ heat shock protein family (Hsp40) member A3) Homo sapiens
Analyze
Symbol: DNAJA3
Name: DnaJ heat shock protein family (Hsp40) member A3
RGD ID: 1315195
HGNC Page HGNC:11808
Description: Enables several functions, including IkappaB kinase complex binding activity; NF-kappaB binding activity; and type II interferon receptor binding activity. Involved in several processes, including negative regulation of signal transduction; protein stabilization; and regulation of apoptotic process. Located in several cellular components, including actin filament; cytosol; and mitochondrial nucleoid.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DnaJ (Hsp40) homolog, subfamily A, member 3; dnaJ homolog subfamily A member 3, mitochondrial; dnaJ protein Tid-1; FLJ45758; HCA57; hepatocellular carcinoma-associated antigen 57; hTid-1; TID1; Tid1-L; Tid1-S; tumorous imaginal discs homolog; tumorous imaginal discs protein Tid56 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,425,868 - 4,456,775 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,425,805 - 4,456,775 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,475,869 - 4,506,776 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,415,883 - 4,446,777 (+)NCBINCBI36Build 36hg18NCBI36
Build 34164,415,882 - 4,446,774NCBI
Celera164,684,763 - 4,715,682 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,443,030 - 4,474,077 (+)NCBIHuRef
CHM1_1164,475,548 - 4,506,722 (+)NCBICHM1_1
T2T-CHM13v2.0164,455,068 - 4,485,978 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:9683573   PMID:10411904   PMID:11005857   PMID:11116152   PMID:11147971   PMID:11679576   PMID:11707338   PMID:11719219   PMID:11927590   PMID:12097419   PMID:12118383  
PMID:12477932   PMID:12879007   PMID:14578343   PMID:14702039   PMID:14993262   PMID:15156195   PMID:15231748   PMID:15489334   PMID:15520177   PMID:15546961   PMID:15589840   PMID:15601829  
PMID:15753086   PMID:15805242   PMID:15879105   PMID:16189514   PMID:16196087   PMID:16204048   PMID:16344560   PMID:16518412   PMID:16531398   PMID:16713569   PMID:17230190   PMID:17314511  
PMID:17500595   PMID:17588722   PMID:18063578   PMID:18097612   PMID:18624398   PMID:19038220   PMID:19380743   PMID:19681071   PMID:19900451   PMID:19935715   PMID:20053669   PMID:20186120  
PMID:20565727   PMID:20800603   PMID:20877624   PMID:21106534   PMID:21139048   PMID:21145461   PMID:21231916   PMID:21242965   PMID:21311096   PMID:21653829   PMID:21710689   PMID:21873635  
PMID:21890473   PMID:21942715   PMID:22544056   PMID:22595283   PMID:22692211   PMID:22810586   PMID:22898364   PMID:22939629   PMID:23085658   PMID:23414517   PMID:23438482   PMID:23455924  
PMID:23698466   PMID:23752268   PMID:23956138   PMID:24255178   PMID:24492964   PMID:24797263   PMID:24816145   PMID:25036637   PMID:25147182   PMID:25416956   PMID:25437307   PMID:25852190  
PMID:25904328   PMID:25940091   PMID:26055714   PMID:26245905   PMID:26344197   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26687479   PMID:26841866   PMID:26972000   PMID:27025967  
PMID:27107014   PMID:27229929   PMID:27320910   PMID:27483141   PMID:27503909   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28718761   PMID:28883622  
PMID:29150431   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509794   PMID:29568061   PMID:29615496   PMID:29742433   PMID:29802200  
PMID:29844126   PMID:29991511   PMID:30022168   PMID:30083263   PMID:30154076   PMID:30166453   PMID:30196744   PMID:30209976   PMID:30425250   PMID:30443176   PMID:30455355   PMID:30462309  
PMID:30463901   PMID:30619736   PMID:30699358   PMID:30770860   PMID:30804502   PMID:30940648   PMID:30948266   PMID:31005254   PMID:31081962   PMID:31091453   PMID:31240132   PMID:31343991  
PMID:31462741   PMID:31586073   PMID:31685992   PMID:31753913   PMID:31871319   PMID:31980649   PMID:31995728   PMID:32176739   PMID:32296183   PMID:32513696   PMID:32528060   PMID:32628020  
PMID:32683582   PMID:32707033   PMID:32807901   PMID:32814053   PMID:32877691   PMID:32912968   PMID:33022573   PMID:33187986   PMID:33306668   PMID:33567341   PMID:33731348   PMID:33957083  
PMID:33961781   PMID:34004371   PMID:34079125   PMID:34373451   PMID:34591612   PMID:34597346   PMID:34687317   PMID:34709727   PMID:34750646   PMID:35013218   PMID:35013556   PMID:35182466  
PMID:35241646   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35384245   PMID:35446349   PMID:35563538   PMID:35651334   PMID:35819319   PMID:35831314   PMID:35944360  
PMID:36114006   PMID:36180527   PMID:36215168   PMID:36526897   PMID:36538041   PMID:36736316   PMID:36779763   PMID:36912080   PMID:38113892  


Genomics

Comparative Map Data
DNAJA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,425,868 - 4,456,775 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,425,805 - 4,456,775 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,475,869 - 4,506,776 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,415,883 - 4,446,777 (+)NCBINCBI36Build 36hg18NCBI36
Build 34164,415,882 - 4,446,774NCBI
Celera164,684,763 - 4,715,682 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,443,030 - 4,474,077 (+)NCBIHuRef
CHM1_1164,475,548 - 4,506,722 (+)NCBICHM1_1
T2T-CHM13v2.0164,455,068 - 4,485,978 (+)NCBIT2T-CHM13v2.0
Dnaja3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,501,934 - 4,525,559 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,457,853 - 4,525,559 (+)EnsemblGRCm39 Ensembl
GRCm38164,684,070 - 4,707,695 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,639,989 - 4,707,695 (+)EnsemblGRCm38mm10GRCm38
MGSCv37164,684,070 - 4,707,695 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,599,351 - 4,622,919 (+)NCBIMGSCv36mm8
Celera165,314,744 - 5,338,370 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.46NCBI
Dnaja3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,361,168 - 11,386,599 (-)NCBIGRCr8
mRatBN7.21010,854,732 - 10,880,171 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,854,732 - 10,880,161 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,563,581 - 15,588,960 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01015,052,404 - 15,077,778 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,721,534 - 10,746,679 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01011,059,701 - 11,085,186 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1011,060,313 - 11,085,210 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,825,059 - 9,850,531 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,984,721 - 11,009,374 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11010,985,703 - 11,009,402 (-)NCBI
Celera109,817,864 - 9,842,384 (-)NCBICelera
Cytogenetic Map10q12NCBI
Dnaja3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,967,438 - 13,010,943 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,971,031 - 13,002,605 (-)NCBIChiLan1.0ChiLan1.0
DNAJA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2184,956,514 - 4,986,628 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1168,746,188 - 8,776,316 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,351,825 - 3,381,914 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,519,965 - 4,550,786 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,519,965 - 4,550,786 (+)Ensemblpanpan1.1panPan2
DNAJA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,921,941 - 36,967,718 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,917,858 - 36,967,689 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha638,249,594 - 38,296,021 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0637,125,733 - 37,171,931 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl637,123,075 - 37,171,919 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,919,804 - 36,966,222 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,812,985 - 36,859,394 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0637,214,235 - 37,260,679 (-)NCBIUU_Cfam_GSD_1.0
Dnaja3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,634,555 - 106,665,565 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493669444,635 - 74,958 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493669443,898 - 74,939 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAJA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,883,244 - 37,919,324 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,883,233 - 37,919,141 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,938,175 - 38,974,053 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNAJA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,109,612 - 4,139,789 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606826,530,263 - 26,581,063 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnaja3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,214,240 - 2,259,696 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,215,337 - 2,259,696 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAJA3
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 copy number gain See cases [RCV000050956] Chr16:3710449..4644951 [GRCh38]
Chr16:3760450..4694952 [GRCh37]
Chr16:3700451..4634953 [NCBI36]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1 copy number loss See cases [RCV000137768] Chr16:3820522..4668347 [GRCh38]
Chr16:3870523..4718348 [GRCh37]
Chr16:3810524..4658349 [NCBI36]
Chr16:16p13.3
pathogenic|likely pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 copy number gain See cases [RCV000142504] Chr16:3726702..4644961 [GRCh38]
Chr16:3776703..4694962 [GRCh37]
Chr16:3716704..4634963 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_005147.6(DNAJA3):c.98G>T (p.Gly33Val) single nucleotide variant Inborn genetic diseases [RCV003251816] Chr16:4425979 [GRCh38]
Chr16:4475980 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:4382314-4511029)x1 copy number loss not provided [RCV000848810] Chr16:4382314..4511029 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.158C>T (p.Thr53Ile) single nucleotide variant Inborn genetic diseases [RCV003273271] Chr16:4426039 [GRCh38]
Chr16:4476040 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1201T>C (p.Tyr401His) single nucleotide variant Inborn genetic diseases [RCV003242227] Chr16:4448808 [GRCh38]
Chr16:4498809 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3
pathogenic
NM_005147.6(DNAJA3):c.452G>C (p.Arg151Thr) single nucleotide variant not provided [RCV001175175] Chr16:4441397 [GRCh38]
Chr16:4491398 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic|likely pathogenic
NC_000016.9:g.(?_3777699)_(4852592_?)dup duplication Kohlschutter's syndrome [RCV001305610] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.10:g.3619617_4448281del deletion See cases [RCV003313806] Chr16:3619617..4448281 [GRCh38]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1282G>A (p.Ala428Thr) single nucleotide variant not provided [RCV003152370] Chr16:4450440 [GRCh38]
Chr16:4500441 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_005147.6(DNAJA3):c.552G>T (p.Glu184Asp) single nucleotide variant Inborn genetic diseases [RCV002902143] Chr16:4441497 [GRCh38]
Chr16:4491498 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.68C>T (p.Ser23Leu) single nucleotide variant Inborn genetic diseases [RCV002749691] Chr16:4425949 [GRCh38]
Chr16:4475950 [GRCh37]
Chr16:16p13.3
likely benign
NM_005147.6(DNAJA3):c.145G>A (p.Ala49Thr) single nucleotide variant Inborn genetic diseases [RCV002689645] Chr16:4426026 [GRCh38]
Chr16:4476027 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.532C>G (p.Pro178Ala) single nucleotide variant Inborn genetic diseases [RCV002777313] Chr16:4441477 [GRCh38]
Chr16:4491478 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.170C>T (p.Pro57Leu) single nucleotide variant Inborn genetic diseases [RCV002684181] Chr16:4426051 [GRCh38]
Chr16:4476052 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.190A>G (p.Arg64Gly) single nucleotide variant Inborn genetic diseases [RCV002905843] Chr16:4426071 [GRCh38]
Chr16:4476072 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1198G>A (p.Gly400Ser) single nucleotide variant Inborn genetic diseases [RCV003001170] Chr16:4448805 [GRCh38]
Chr16:4498806 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1427A>G (p.Lys476Arg) single nucleotide variant Inborn genetic diseases [RCV002694419] Chr16:4454898 [GRCh38]
Chr16:4504899 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.149C>T (p.Ser50Phe) single nucleotide variant Inborn genetic diseases [RCV002950660] Chr16:4426030 [GRCh38]
Chr16:4476031 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.8C>T (p.Ala3Val) single nucleotide variant Inborn genetic diseases [RCV002978637] Chr16:4425889 [GRCh38]
Chr16:4475890 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1255C>T (p.Arg419Trp) single nucleotide variant Inborn genetic diseases [RCV002888891] Chr16:4450413 [GRCh38]
Chr16:4500414 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1382G>A (p.Arg461His) single nucleotide variant Inborn genetic diseases [RCV002952166] Chr16:4454853 [GRCh38]
Chr16:4504854 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.739G>C (p.Gly247Arg) single nucleotide variant Inborn genetic diseases [RCV002870514] Chr16:4442376 [GRCh38]
Chr16:4492377 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.812T>C (p.Met271Thr) single nucleotide variant Inborn genetic diseases [RCV002788397] Chr16:4443045 [GRCh38]
Chr16:4493046 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.713G>A (p.Arg238His) single nucleotide variant Inborn genetic diseases [RCV002696918] Chr16:4442350 [GRCh38]
Chr16:4492351 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.245C>T (p.Ser82Phe) single nucleotide variant Inborn genetic diseases [RCV002748672] Chr16:4434417 [GRCh38]
Chr16:4484418 [GRCh37]
Chr16:16p13.3
likely benign
NM_005147.6(DNAJA3):c.458A>G (p.Gln153Arg) single nucleotide variant Inborn genetic diseases [RCV002896493] Chr16:4441403 [GRCh38]
Chr16:4491404 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1264A>C (p.Ser422Arg) single nucleotide variant Inborn genetic diseases [RCV002678036] Chr16:4450422 [GRCh38]
Chr16:4500423 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.850A>G (p.Ile284Val) single nucleotide variant Inborn genetic diseases [RCV002655355] Chr16:4443083 [GRCh38]
Chr16:4493084 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.589T>G (p.Ser197Ala) single nucleotide variant Inborn genetic diseases [RCV003192140] Chr16:4441534 [GRCh38]
Chr16:4491535 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.733G>A (p.Glu245Lys) single nucleotide variant Inborn genetic diseases [RCV003197240] Chr16:4442370 [GRCh38]
Chr16:4492371 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.58C>T (p.Pro20Ser) single nucleotide variant Inborn genetic diseases [RCV003210112] Chr16:4425939 [GRCh38]
Chr16:4475940 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.137C>T (p.Pro46Leu) single nucleotide variant Inborn genetic diseases [RCV003263799] Chr16:4426018 [GRCh38]
Chr16:4476019 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1105T>C (p.Tyr369His) single nucleotide variant Inborn genetic diseases [RCV003341319] Chr16:4446994 [GRCh38]
Chr16:4496995 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1363G>A (p.Ala455Thr) single nucleotide variant Inborn genetic diseases [RCV003341306] Chr16:4454834 [GRCh38]
Chr16:4504835 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.22C>G (p.Arg8Gly) single nucleotide variant Inborn genetic diseases [RCV003359247] Chr16:4425903 [GRCh38]
Chr16:4475904 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.61G>A (p.Ala21Thr) single nucleotide variant Inborn genetic diseases [RCV003344573] Chr16:4425942 [GRCh38]
Chr16:4475943 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.1256G>A (p.Arg419Gln) single nucleotide variant Inborn genetic diseases [RCV003343260] Chr16:4450414 [GRCh38]
Chr16:4500415 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.163T>C (p.Cys55Arg) single nucleotide variant Inborn genetic diseases [RCV003348183] Chr16:4426044 [GRCh38]
Chr16:4476045 [GRCh37]
Chr16:16p13.3
likely benign
NM_005147.6(DNAJA3):c.274G>A (p.Glu92Lys) single nucleotide variant Inborn genetic diseases [RCV003374335] Chr16:4434446 [GRCh38]
Chr16:4484447 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:4473657-4653699)x1 copy number loss not provided [RCV003483263] Chr16:4473657..4653699 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:4506592-4569331)x1 copy number loss not provided [RCV003483264] Chr16:4506592..4569331 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_005147.6(DNAJA3):c.65T>C (p.Ile22Thr) single nucleotide variant Inborn genetic diseases [RCV003344733] Chr16:4425946 [GRCh38]
Chr16:4475947 [GRCh37]
Chr16:16p13.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR550A3hsa-miR-550a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR550A2hsa-miR-550a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:4142
Count of miRNA genes:1037
Interacting mature miRNAs:1284
Transcripts:ENST00000262375, ENST00000355296, ENST00000431375, ENST00000570857, ENST00000572009, ENST00000572139, ENST00000572974, ENST00000573120, ENST00000574393, ENST00000574895, ENST00000575106, ENST00000576180, ENST00000576911, ENST00000577083
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.

Markers in Region
Bda26e12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,506,486 - 4,506,588UniSTSGRCh37
Build 36164,446,487 - 4,446,589RGDNCBI36
Celera164,715,392 - 4,715,494RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,473,787 - 4,473,889UniSTS
GeneMap99-GB4 RH Map1662.34UniSTS
SHGC-61069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,506,479 - 4,506,704UniSTSGRCh37
Build 36164,446,480 - 4,446,705RGDNCBI36
Celera164,715,385 - 4,715,610RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,473,780 - 4,474,005UniSTS
GeneMap99-GB4 RH Map1668.98UniSTS
NCBI RH Map16139.9UniSTS
1908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,506,628 - 4,506,704UniSTSGRCh37
Build 36164,446,629 - 4,446,705RGDNCBI36
Celera164,715,534 - 4,715,610RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,473,929 - 4,474,005UniSTS
GeneMap99-GB4 RH Map1663.59UniSTS
SHGC-60607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,506,394 - 4,506,602UniSTSGRCh37
Build 36164,446,395 - 4,446,603RGDNCBI36
Celera164,715,300 - 4,715,508RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,473,695 - 4,473,903UniSTS
GeneMap99-GB4 RH Map1662.5UniSTS
Whitehead-RH Map1630.0UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
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Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 2431 2205 1701 604 1263 445 4355 2094 3325 399 1449 1603 175 1 1199 2787 6 2
Low 8 785 25 20 686 20 2 103 409 20 11 10 5 1
Below cutoff 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF244136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF411044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX445320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA172592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000262375   ⟹   ENSP00000262375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,868 - 4,456,775 (+)Ensembl
RefSeq Acc Id: ENST00000355296   ⟹   ENSP00000347445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,860 - 4,456,775 (+)Ensembl
RefSeq Acc Id: ENST00000431375   ⟹   ENSP00000393970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,805 - 4,456,772 (+)Ensembl
RefSeq Acc Id: ENST00000570857   ⟹   ENSP00000460358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,865 - 4,442,308 (+)Ensembl
RefSeq Acc Id: ENST00000572009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,434,298 - 4,441,401 (+)Ensembl
RefSeq Acc Id: ENST00000572139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,433,846 - 4,441,477 (+)Ensembl
RefSeq Acc Id: ENST00000572974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,868 - 4,431,868 (+)Ensembl
RefSeq Acc Id: ENST00000573120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,426,048 - 4,437,625 (+)Ensembl
RefSeq Acc Id: ENST00000574393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,455,492 - 4,456,775 (+)Ensembl
RefSeq Acc Id: ENST00000574895   ⟹   ENSP00000459088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,879 - 4,442,393 (+)Ensembl
RefSeq Acc Id: ENST00000575106   ⟹   ENSP00000458868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,865 - 4,442,383 (+)Ensembl
RefSeq Acc Id: ENST00000576180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,449,554 - 4,456,772 (+)Ensembl
RefSeq Acc Id: ENST00000576911   ⟹   ENSP00000459098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,425,865 - 4,455,951 (+)Ensembl
RefSeq Acc Id: ENST00000577083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,440,257 - 4,447,955 (+)Ensembl
RefSeq Acc Id: NM_001135110   ⟹   NP_001128582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,425,868 - 4,456,775 (+)NCBI
GRCh37164,475,806 - 4,506,776 (+)NCBI
HuRef164,443,030 - 4,474,077 (+)NCBI
CHM1_1164,475,548 - 4,506,722 (+)NCBI
T2T-CHM13v2.0164,455,068 - 4,485,978 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286516   ⟹   NP_001273445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,425,868 - 4,456,775 (+)NCBI
HuRef164,443,030 - 4,474,077 (+)NCBI
CHM1_1164,475,548 - 4,506,722 (+)NCBI
T2T-CHM13v2.0164,455,068 - 4,485,978 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005147   ⟹   NP_005138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,425,868 - 4,456,775 (+)NCBI
GRCh37164,475,806 - 4,506,776 (+)NCBI
Build 36164,415,883 - 4,446,777 (+)NCBI Archive
HuRef164,443,030 - 4,474,077 (+)NCBI
CHM1_1164,475,548 - 4,506,722 (+)NCBI
T2T-CHM13v2.0164,455,068 - 4,485,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434875   ⟹   XP_047290831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,425,868 - 4,454,928 (+)NCBI
RefSeq Acc Id: XM_054314330   ⟹   XP_054170305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,455,068 - 4,484,131 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001128582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273445 (Get FASTA)   NCBI Sequence Viewer  
  NP_005138 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290831 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185163 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC29066 (Get FASTA)   NCBI Sequence Viewer  
  AAF66245 (Get FASTA)   NCBI Sequence Viewer  
  AAH07225 (Get FASTA)   NCBI Sequence Viewer  
  AAH11855 (Get FASTA)   NCBI Sequence Viewer  
  AAH12343 (Get FASTA)   NCBI Sequence Viewer  
  AAH14062 (Get FASTA)   NCBI Sequence Viewer  
  AAH20248 (Get FASTA)   NCBI Sequence Viewer  
  AAH30145 (Get FASTA)   NCBI Sequence Viewer  
  AAH32100 (Get FASTA)   NCBI Sequence Viewer  
  AAL35323 (Get FASTA)   NCBI Sequence Viewer  
  BAD93160 (Get FASTA)   NCBI Sequence Viewer  
  BAD96825 (Get FASTA)   NCBI Sequence Viewer  
  BAG36892 (Get FASTA)   NCBI Sequence Viewer  
  BAG50893 (Get FASTA)   NCBI Sequence Viewer  
  BAG58345 (Get FASTA)   NCBI Sequence Viewer  
  EAW85303 (Get FASTA)   NCBI Sequence Viewer  
  EAW85304 (Get FASTA)   NCBI Sequence Viewer  
  EAW85305 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262375
  ENSP00000262375.4
  ENSP00000347445
  ENSP00000347445.4
  ENSP00000393970
  ENSP00000393970.2
  ENSP00000458868.1
  ENSP00000459088.1
  ENSP00000459098.1
  ENSP00000460358.1
  ENSP00000477570.1
  ENSP00000479815.1
  ENSP00000480419.2
  ENSP00000487896.1
  ENSP00000488175.1
  ENSP00000488665.1
GenBank Protein Q96EY1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005138   ⟸   NM_005147
- Peptide Label: isoform 1
- UniProtKB: Q96IV1 (UniProtKB/Swiss-Prot),   Q96D76 (UniProtKB/Swiss-Prot),   Q8WXJ3 (UniProtKB/Swiss-Prot),   Q8WUJ6 (UniProtKB/Swiss-Prot),   O75472 (UniProtKB/Swiss-Prot),   E7ES32 (UniProtKB/Swiss-Prot),   B4DI33 (UniProtKB/Swiss-Prot),   B2RAJ5 (UniProtKB/Swiss-Prot),   Q9NYH8 (UniProtKB/Swiss-Prot),   Q96EY1 (UniProtKB/Swiss-Prot),   Q53G26 (UniProtKB/TrEMBL),   Q59E88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128582   ⟸   NM_001135110
- Peptide Label: isoform 2
- UniProtKB: B3KM81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273445   ⟸   NM_001286516
- Peptide Label: isoform 3
- UniProtKB: Q96EY1 (UniProtKB/Swiss-Prot),   B3KM81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000460358   ⟸   ENST00000570857
RefSeq Acc Id: ENSP00000459088   ⟸   ENST00000574895
RefSeq Acc Id: ENSP00000458868   ⟸   ENST00000575106
RefSeq Acc Id: ENSP00000459098   ⟸   ENST00000576911
RefSeq Acc Id: ENSP00000393970   ⟸   ENST00000431375
RefSeq Acc Id: ENSP00000347445   ⟸   ENST00000355296
RefSeq Acc Id: ENSP00000262375   ⟸   ENST00000262375
RefSeq Acc Id: XP_047290831   ⟸   XM_047434875
- Peptide Label: isoform X1
- UniProtKB: Q96IV1 (UniProtKB/Swiss-Prot),   Q96EY1 (UniProtKB/Swiss-Prot),   Q96D76 (UniProtKB/Swiss-Prot),   Q8WXJ3 (UniProtKB/Swiss-Prot),   Q8WUJ6 (UniProtKB/Swiss-Prot),   O75472 (UniProtKB/Swiss-Prot),   E7ES32 (UniProtKB/Swiss-Prot),   B4DI33 (UniProtKB/Swiss-Prot),   B2RAJ5 (UniProtKB/Swiss-Prot),   Q9NYH8 (UniProtKB/Swiss-Prot),   Q53G26 (UniProtKB/TrEMBL),   Q59E88 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170305   ⟸   XM_054314330
- Peptide Label: isoform X1
- UniProtKB: Q96IV1 (UniProtKB/Swiss-Prot),   Q96EY1 (UniProtKB/Swiss-Prot),   Q96D76 (UniProtKB/Swiss-Prot),   Q8WXJ3 (UniProtKB/Swiss-Prot),   Q8WUJ6 (UniProtKB/Swiss-Prot),   O75472 (UniProtKB/Swiss-Prot),   E7ES32 (UniProtKB/Swiss-Prot),   B4DI33 (UniProtKB/Swiss-Prot),   B2RAJ5 (UniProtKB/Swiss-Prot),   Q9NYH8 (UniProtKB/Swiss-Prot),   Q53G26 (UniProtKB/TrEMBL),   Q59E88 (UniProtKB/TrEMBL)
Protein Domains
CR-type   J

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96EY1-F1-model_v2 AlphaFold Q96EY1 1-480 view protein structure

Promoters
RGD ID:6792972
Promoter ID:HG_KWN:22926
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:OTTHUMT00000251633,   UC002CWL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,414,861 - 4,415,942 (+)MPROMDB
RGD ID:7231205
Promoter ID:EPDNEW_H21349
Type:multiple initiation site
Name:DNAJA3_1
Description:DnaJ heat shock protein family member A3
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
GRCh38164,425,868 - 4,425,928EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11808 AgrOrtholog
COSMIC DNAJA3 COSMIC
Ensembl Genes ENSG00000103423 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262375 ENTREZGENE
  ENST00000262375.11 UniProtKB/Swiss-Prot
  ENST00000355296 ENTREZGENE
  ENST00000355296.8 UniProtKB/Swiss-Prot
  ENST00000431375 ENTREZGENE
  ENST00000431375.6 UniProtKB/Swiss-Prot
  ENST00000570857.5 UniProtKB/TrEMBL
  ENST00000574895.1 UniProtKB/TrEMBL
  ENST00000575106.5 UniProtKB/TrEMBL
  ENST00000576911.5 UniProtKB/TrEMBL
  ENST00000612103.4 UniProtKB/Swiss-Prot
  ENST00000614397.4 UniProtKB/Swiss-Prot
  ENST00000615114.2 UniProtKB/TrEMBL
  ENST00000631547.1 UniProtKB/TrEMBL
  ENST00000633082.1 UniProtKB/TrEMBL
  ENST00000633931.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Heat shock protein DnaJ, cysteine-rich domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Urease metallochaperone UreE, N-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103423 GTEx
  ENSG00000276726 GTEx
HGNC ID HGNC:11808 ENTREZGENE
Human Proteome Map DNAJA3 Human Proteome Map
InterPro DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_domain_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP40/DnaJ_pept-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP_DnaJ_Cys-rich_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP_DnaJ_Cys-rich_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9093 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9093 ENTREZGENE
OMIM 608382 OMIM
PANTHER DNAJ HOMOLOG SUBFAMILY A MEMBER 3, MITOCHONDRIAL UniProtKB/Swiss-Prot
  DNAJ HOMOLOG SUBFAMILY A MEMBER 3, MITOCHONDRIAL UniProtKB/Swiss-Prot
  DNAJ HOMOLOG SUBFAMILY A MEMBER 3, MITOCHONDRIAL UniProtKB/TrEMBL
  DNAJ HOMOLOG SUBFAMILY A MEMBER 3, MITOCHONDRIAL UniProtKB/TrEMBL
Pfam DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_CXXCXGXG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27410 PharmGKB
PRINTS JDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNAJ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNAJ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_CR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49493 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57938 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RAJ5 ENTREZGENE
  B3KM81 ENTREZGENE, UniProtKB/TrEMBL
  B4DI33 ENTREZGENE
  DNJA3_HUMAN UniProtKB/Swiss-Prot
  E7ES32 ENTREZGENE
  I3L1I6_HUMAN UniProtKB/TrEMBL
  I3L1T6_HUMAN UniProtKB/TrEMBL
  I3L1T9_HUMAN UniProtKB/TrEMBL
  I3L3D3_HUMAN UniProtKB/TrEMBL
  O75472 ENTREZGENE
  Q53G26 ENTREZGENE, UniProtKB/TrEMBL
  Q59E88 ENTREZGENE, UniProtKB/TrEMBL
  Q8WUJ6 ENTREZGENE
  Q8WXJ3 ENTREZGENE
  Q96D76 ENTREZGENE
  Q96EY1 ENTREZGENE
  Q96IV1 ENTREZGENE
  Q9NYH8 ENTREZGENE
UniProt Secondary B2RAJ5 UniProtKB/Swiss-Prot
  B4DI33 UniProtKB/Swiss-Prot
  E7ES32 UniProtKB/Swiss-Prot
  O75472 UniProtKB/Swiss-Prot
  Q8WUJ6 UniProtKB/Swiss-Prot
  Q8WXJ3 UniProtKB/Swiss-Prot
  Q96D76 UniProtKB/Swiss-Prot
  Q96IV1 UniProtKB/Swiss-Prot
  Q9NYH8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DNAJA3  DnaJ heat shock protein family (Hsp40) member A3    DnaJ (Hsp40) homolog, subfamily A, member 3  Symbol and/or name change 5135510 APPROVED