TUBA3D (tubulin alpha 3d) - Rat Genome Database

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Gene: TUBA3D (tubulin alpha 3d) Homo sapiens
Analyze
Symbol: TUBA3D
Name: tubulin alpha 3d
RGD ID: 1606186
HGNC Page HGNC:24071
Description: Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to act upstream of or within male germ-line stem cell population maintenance. Located in microtubule cytoskeleton. Implicated in keratoconus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-tubulin 2; Alpha-tubulin 3C; alpha-tubulin 3C/D; alpha-tubulin 3D; alpha-tubulin isotype H2-alpha; H2-ALPHA; KTCN9; TUBA2; TUBA3C; tubulin alpha-2 chain; Tubulin alpha-3C chain; tubulin alpha-3C/D chain; tubulin alpha-3D chain; tubulin, alpha 3d
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Related Pseudogenes: TUBA5P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382131,476,119 - 131,482,934 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2131,476,119 - 131,482,934 (+)EnsemblGRCh38hg38GRCh38
GRCh372132,233,692 - 132,240,507 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362131,950,136 - 131,956,977 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map2q21.1NCBI
HuRef2124,227,036 - 124,233,962 (+)NCBIHuRef
CHM1_12132,237,201 - 132,244,128 (+)NCBICHM1_1
T2T-CHM13v2.02131,910,887 - 131,917,702 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
cytoskeleton  (IEA)
microtubule  (IBA,IEA)
microtubule cytoskeleton  (IDA,IEA)
nucleus  (HDA)

Molecular Function

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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3785200   PMID:12477932   PMID:14702039   PMID:15691386   PMID:15698476   PMID:15851850   PMID:16189514   PMID:16344560   PMID:17207965   PMID:18029348   PMID:19322201   PMID:21145461  
PMID:21167302   PMID:21630459   PMID:21873635   PMID:21942715   PMID:23246001   PMID:23314748   PMID:23463506   PMID:23826228   PMID:24244333   PMID:26344197   PMID:27129302   PMID:27432908  
PMID:28117675   PMID:29051577   PMID:30575818   PMID:33838681  


Genomics

Comparative Map Data
TUBA3D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382131,476,119 - 131,482,934 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2131,476,119 - 131,482,934 (+)EnsemblGRCh38hg38GRCh38
GRCh372132,233,692 - 132,240,507 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362131,950,136 - 131,956,977 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map2q21.1NCBI
HuRef2124,227,036 - 124,233,962 (+)NCBIHuRef
CHM1_12132,237,201 - 132,244,128 (+)NCBICHM1_1
T2T-CHM13v2.02131,910,887 - 131,917,702 (+)NCBIT2T-CHM13v2.0
Tuba3b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396145,561,689 - 145,567,203 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6145,561,483 - 145,567,205 (+)EnsemblGRCm39 Ensembl
GRCm386145,615,963 - 145,621,477 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6145,615,757 - 145,621,479 (+)EnsemblGRCm38mm10GRCm38
MGSCv376145,564,483 - 145,569,997 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366145,573,198 - 145,578,628 (+)NCBIMGSCv36mm8
Celera6148,691,160 - 148,696,674 (+)NCBICelera
Cytogenetic Map6G3NCBI
cM Map677.62NCBI
Tuba3b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84180,319,600 - 180,325,149 (+)NCBIGRCr8
mRatBN7.24178,588,779 - 178,594,328 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4178,588,779 - 178,594,326 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4184,874,407 - 184,879,962 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04180,658,915 - 180,664,470 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04179,279,330 - 179,284,885 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04179,905,154 - 179,910,703 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4179,905,116 - 179,910,704 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04244,079,934 - 244,085,483 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44183,289,130 - 183,294,679 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4167,094,233 - 167,099,782 (+)NCBICelera
Cytogenetic Map4q44NCBI
LOC608051
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,428,955 - 30,437,431 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,428,954 - 30,437,353 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,387,644 - 30,399,096 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02631,837,791 - 31,849,503 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12629,883,647 - 29,895,338 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02629,507,858 - 29,519,551 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02630,597,289 - 30,608,735 (-)NCBIUU_Cfam_GSD_1.0
LOC100510930
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11450,594,115 - 50,600,789 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21454,042,851 - 54,049,328 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in TUBA3D
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3 copy number gain VATER association [RCV000519182] Chr2:132140614..132312325 [GRCh37]
Chr2:2q21.1		 likely benign
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3		 pathogenic
NM_080386.3(TUBA3D):c.1107C>G (p.Ala369=) single nucleotide variant Malignant melanoma [RCV000065068] Chr2:131482602 [GRCh38]
Chr2:132240175 [GRCh37]
Chr2:131956645 [NCBI36]
Chr2:2q21.1		 not provided
GRCh38/hg38 2q21.1(chr2:131310498-131508954)x3 copy number gain See cases [RCV000135111] Chr2:131310498..131508954 [GRCh38]
Chr2:132068071..132266527 [GRCh37]
Chr2:131784541..131982997 [NCBI36]
Chr2:2q21.1		 benign
GRCh38/hg38 2q21.1(chr2:130743933-131549753)x1 copy number loss See cases [RCV000137130] Chr2:130743933..131549753 [GRCh38]
Chr2:131501506..132307326 [GRCh37]
Chr2:131217976..132023796 [NCBI36]
Chr2:2q21.1		 likely pathogenic|uncertain significance
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1		 pathogenic
GRCh38/hg38 2q21.1(chr2:131337384-131605323)x1 copy number loss See cases [RCV000139227] Chr2:131337384..131605323 [GRCh38]
Chr2:132094957..132362896 [GRCh37]
Chr2:131811427..132079366 [NCBI36]
Chr2:2q21.1		 likely benign|uncertain significance
GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x3 copy number gain See cases [RCV000139297] Chr2:131451345..131736366 [GRCh38]
Chr2:132208918..132493939 [GRCh37]
Chr2:131925388..132210409 [NCBI36]
Chr2:2q21.1-21.2		 likely benign
GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x1 copy number loss See cases [RCV000139301] Chr2:131451345..131736366 [GRCh38]
Chr2:132208918..132493939 [GRCh37]
Chr2:131925388..132210409 [NCBI36]
Chr2:2q21.1-21.2		 likely benign
GRCh38/hg38 2q21.1-21.2(chr2:131409034-131940119)x1 copy number loss See cases [RCV000139880] Chr2:131409034..131940119 [GRCh38]
Chr2:132166607..132697692 [GRCh37]
Chr2:131883077..132414162 [NCBI36]
Chr2:2q21.1-21.2		 uncertain significance
GRCh38/hg38 2q21.1(chr2:131340404-131643336)x1 copy number loss See cases [RCV000139536] Chr2:131340404..131643336 [GRCh38]
Chr2:132097977..132400909 [GRCh37]
Chr2:131814447..132117379 [NCBI36]
Chr2:2q21.1		 likely benign
GRCh38/hg38 2q21.1(chr2:131337384-131619715)x1 copy number loss See cases [RCV000140823] Chr2:131337384..131619715 [GRCh38]
Chr2:132094957..132377288 [GRCh37]
Chr2:131811427..132093758 [NCBI36]
Chr2:2q21.1		 likely benign|uncertain significance
GRCh38/hg38 2q21.1(chr2:131271331-131497222)x0 copy number loss See cases [RCV000141774] Chr2:131271331..131497222 [GRCh38]
Chr2:132028904..132254795 [GRCh37]
Chr2:131745374..131971265 [NCBI36]
Chr2:2q21.1		 likely benign
GRCh38/hg38 2q21.1-21.2(chr2:131100857-132436431)x3 copy number gain See cases [RCV000141447] Chr2:131100857..132436431 [GRCh38]
Chr2:131858430..133194004 [GRCh37]
Chr2:131574900..132910474 [NCBI36]
Chr2:2q21.1-21.2		 uncertain significance
GRCh38/hg38 2q21.1-21.2(chr2:131291207-132406186)x3 copy number gain See cases [RCV000142215] Chr2:131291207..132406186 [GRCh38]
Chr2:132048780..133163759 [GRCh37]
Chr2:131765250..132880229 [NCBI36]
Chr2:2q21.1-21.2		 likely benign|uncertain significance
NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter) single nucleotide variant Keratoconus 9 [RCV000606401] Chr2:131478191 [GRCh38]
Chr2:132235764 [GRCh37]
Chr2:2q21.1		 pathogenic
NM_080386.4(TUBA3D):c.200_201dup (p.Val68fs) duplication Keratoconus 9 [RCV000613508] Chr2:131478358..131478359 [GRCh38]
Chr2:132235931..132235932 [GRCh37]
Chr2:2q21.1		 pathogenic
GRCh37/hg19 2q21.1(chr2:131477746-132280823)x1 copy number loss See cases [RCV000447366] Chr2:131477746..132280823 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1(chr2:132238316-132290940)x3 copy number gain See cases [RCV000446059] Chr2:132238316..132290940 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1 copy number loss See cases [RCV000445892] Chr2:128490257..138210164 [GRCh37]
Chr2:2q14.3-22.1		 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 2q21.1-21.2(chr2:130920847-134220436)x3 copy number gain See cases [RCV000511730] Chr2:130920847..134220436 [GRCh37]
Chr2:2q21.1-21.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_080386.4(TUBA3D):c.989C>T (p.Ala330Val) single nucleotide variant Inborn genetic diseases [RCV003296018] Chr2:131480682 [GRCh38]
Chr2:132238255 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely 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 2q21.1(chr2:131991166-132234986)x3 copy number gain not provided [RCV000753128] Chr2:131991166..132234986 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q21.1(chr2:131947586-132307088)x3 copy number gain not provided [RCV000753127] Chr2:131947586..132307088 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q21.1(chr2:132077379-132298468)x3 copy number gain not provided [RCV000753130] Chr2:132077379..132298468 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q21.1(chr2:132221814-132248584)x1 copy number loss not provided [RCV000753132] Chr2:132221814..132248584 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q21.1(chr2:131441725-132267790)x3 copy number gain not provided [RCV000845735] Chr2:131441725..132267790 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1(chr2:131463331-132249175)x3 copy number gain not provided [RCV000753124] Chr2:131463331..132249175 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q21.1(chr2:132077379-132276359)x1 copy number loss not provided [RCV000753129] Chr2:132077379..132276359 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q21.1(chr2:131477947-132280823)x1 copy number loss not provided [RCV001005317] Chr2:131477947..132280823 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1122C>T (p.Ala374=) single nucleotide variant not provided [RCV000882563] Chr2:131482617 [GRCh38]
Chr2:132240190 [GRCh37]
Chr2:2q21.1		 benign
NM_080386.4(TUBA3D):c.910A>G (p.Lys304Glu) single nucleotide variant Inborn genetic diseases [RCV003245365] Chr2:131480603 [GRCh38]
Chr2:132238176 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3 copy number gain not provided [RCV000846479] Chr2:130916858..134213436 [GRCh37]
Chr2:2q21.1-21.2		 uncertain significance
GRCh37/hg19 2q21.1(chr2:131452092-132269288)x3 copy number gain not provided [RCV000846095] Chr2:131452092..132269288 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1169G>A (p.Arg390His) single nucleotide variant Inborn genetic diseases [RCV003247361] Chr2:131482664 [GRCh38]
Chr2:132240237 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1264C>T (p.Arg422Cys) single nucleotide variant not provided [RCV000907755] Chr2:131482759 [GRCh38]
Chr2:132240332 [GRCh37]
Chr2:2q21.1		 likely benign
NM_080386.4(TUBA3D):c.309C>T (p.Tyr103=) single nucleotide variant not provided [RCV000974925] Chr2:131479390 [GRCh38]
Chr2:132236963 [GRCh37]
Chr2:2q21.1		 likely benign
NM_080386.4(TUBA3D):c.341T>A (p.Ile114Asn) single nucleotide variant not provided [RCV000974926] Chr2:131479422 [GRCh38]
Chr2:132236995 [GRCh37]
Chr2:2q21.1		 benign
NM_080386.4(TUBA3D):c.4-9T>G single nucleotide variant not provided [RCV000970951] Chr2:131478155 [GRCh38]
Chr2:132235728 [GRCh37]
Chr2:2q21.1		 likely benign
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 copy number loss See cases [RCV001194541] Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2		 likely pathogenic
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
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 copy number loss not provided [RCV001832883] Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2		 pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q21.1-21.2(chr2:131853044-133195255)x3 copy number gain See cases [RCV002292205] Chr2:131853044..133195255 [GRCh37]
Chr2:2q21.1-21.2		 uncertain significance
GRCh37/hg19 2q21.1(chr2:131974176-132269102)x1 copy number loss not provided [RCV002474806] Chr2:131974176..132269102 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1-21.2(chr2:132058665-133163759)x3 copy number gain not provided [RCV002472400] Chr2:132058665..133163759 [GRCh37]
Chr2:2q21.1-21.2		 uncertain significance
NM_080386.4(TUBA3D):c.466C>T (p.Arg156Trp) single nucleotide variant Hepatocellular carcinoma [RCV002302737] Chr2:131480159 [GRCh38]
Chr2:132237732 [GRCh37]
Chr2:2q21.1		 pathogenic
NM_080386.4(TUBA3D):c.430G>A (p.Gly144Ser) single nucleotide variant Inborn genetic diseases [RCV002882365] Chr2:131480123 [GRCh38]
Chr2:132237696 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1(chr2:131974176-132280823)x1 copy number loss not provided [RCV002475825] Chr2:131974176..132280823 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1267G>A (p.Glu423Lys) single nucleotide variant Inborn genetic diseases [RCV002759919] Chr2:131482762 [GRCh38]
Chr2:132240335 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.758C>T (p.Thr253Met) single nucleotide variant Inborn genetic diseases [RCV002758675] Chr2:131480451 [GRCh38]
Chr2:132238024 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1093G>A (p.Gly365Arg) single nucleotide variant Inborn genetic diseases [RCV002977927] Chr2:131482588 [GRCh38]
Chr2:132240161 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.656T>C (p.Ile219Thr) single nucleotide variant Inborn genetic diseases [RCV002911053] Chr2:131480349 [GRCh38]
Chr2:132237922 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1103T>G (p.Leu368Arg) single nucleotide variant Inborn genetic diseases [RCV002641171] Chr2:131482598 [GRCh38]
Chr2:132240171 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.467G>A (p.Arg156Gln) single nucleotide variant Inborn genetic diseases [RCV002956312] Chr2:131480160 [GRCh38]
Chr2:132237733 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.880G>A (p.Ala294Thr) single nucleotide variant Inborn genetic diseases [RCV002767708] Chr2:131480573 [GRCh38]
Chr2:132238146 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.799T>A (p.Phe267Ile) single nucleotide variant Inborn genetic diseases [RCV002644986] Chr2:131480492 [GRCh38]
Chr2:132238065 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.158T>C (p.Phe53Ser) single nucleotide variant Inborn genetic diseases [RCV002808117] Chr2:131478318 [GRCh38]
Chr2:132235891 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.139G>A (p.Asp47Asn) single nucleotide variant Inborn genetic diseases [RCV003211934] Chr2:131478299 [GRCh38]
Chr2:132235872 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.668C>A (p.Thr223Lys) single nucleotide variant Inborn genetic diseases [RCV003197713] Chr2:131480361 [GRCh38]
Chr2:132237934 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1204C>T (p.Arg402Trp) single nucleotide variant Inborn genetic diseases [RCV003175361] Chr2:131482699 [GRCh38]
Chr2:132240272 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.1184T>C (p.Phe395Ser) single nucleotide variant Inborn genetic diseases [RCV003338253] Chr2:131482679 [GRCh38]
Chr2:132240252 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.598T>C (p.Cys200Arg) single nucleotide variant Inborn genetic diseases [RCV003358692] Chr2:131480291 [GRCh38]
Chr2:132237864 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.968T>C (p.Val323Ala) single nucleotide variant Inborn genetic diseases [RCV003342780] Chr2:131480661 [GRCh38]
Chr2:132238234 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_080386.4(TUBA3D):c.998C>T (p.Ala333Val) single nucleotide variant Inborn genetic diseases [RCV003354318] Chr2:131480691 [GRCh38]
Chr2:132238264 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1 copy number loss not provided [RCV003484904] Chr2:131777624..134871884 [GRCh37]
Chr2:2q21.1-21.2		 uncertain significance
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 copy number loss not specified [RCV003986380] Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2		 pathogenic
NM_080386.4(TUBA3D):c.849C>T (p.His283=) single nucleotide variant not provided [RCV003885750] Chr2:131480542 [GRCh38]
Chr2:132238115 [GRCh37]
Chr2:2q21.1		 likely benign
NM_080386.4(TUBA3D):c.867C>T (p.Ala289=) single nucleotide variant not provided [RCV003885751] Chr2:131480560 [GRCh38]
Chr2:132238133 [GRCh37]
Chr2:2q21.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:603
Count of miRNA genes:470
Interacting mature miRNAs:521
Transcripts:ENST00000321253, ENST00000409047
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.

Markers in Region
GDB:555004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371319,748,011 - 19,748,248UniSTSGRCh37
GRCh372132,240,176 - 132,240,412UniSTSGRCh37
Build 362131,956,646 - 131,956,882RGDNCBI36
Celera13809,951 - 810,188RGD
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map13q11UniSTS
H2-ALPHA__6686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372132,240,125 - 132,240,691UniSTSGRCh37
GRCh372130,949,137 - 130,949,700UniSTSGRCh37
Build 362130,665,607 - 130,666,170RGDNCBI36
Celera2124,223,925 - 124,224,488RGD
HuRef2124,233,580 - 124,234,146UniSTS
HuRef2123,246,757 - 123,247,320UniSTS
D1S3688  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16q21UniSTS


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 adipose tissue appendage entire extraembryonic component
High 172
Medium 4 7 17 12 19 12 12 7 8 24 255 21 1 4
Low 293 87 188 122 443 120 249 61 142 131 236 261 10 24 32 3
Below cutoff 1153 1349 962 376 846 281 1689 1054 1670 206 541 757 99 426 1026 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000321253   ⟹   ENSP00000326042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2131,476,119 - 131,482,934 (+)Ensembl
RefSeq Acc Id: ENST00000409047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2131,478,717 - 131,480,338 (+)Ensembl
RefSeq Acc Id: NM_080386   ⟹   NP_525125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382131,476,119 - 131,482,934 (+)NCBI
GRCh372132,233,580 - 132,240,507 (+)NCBI
Build 362131,950,136 - 131,956,977 (+)NCBI Archive
HuRef2124,227,036 - 124,233,962 (+)NCBI
CHM1_12132,237,201 - 132,244,128 (+)NCBI
T2T-CHM13v2.02131,910,887 - 131,917,702 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_525125 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36785 (Get FASTA)   NCBI Sequence Viewer  
  AAH57810 (Get FASTA)   NCBI Sequence Viewer  
  BAF84942 (Get FASTA)   NCBI Sequence Viewer  
  CBH19489 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326042
  ENSP00000326042.6
GenBank Protein P0DPH8 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_525125   ⟸   NM_080386
- UniProtKB: Q6PEY3 (UniProtKB/Swiss-Prot),   Q5W099 (UniProtKB/Swiss-Prot),   P0DPH8 (UniProtKB/Swiss-Prot),   P0DPH7 (UniProtKB/Swiss-Prot),   A6NJQ0 (UniProtKB/Swiss-Prot),   Q96F18 (UniProtKB/Swiss-Prot),   Q13748 (UniProtKB/Swiss-Prot),   Q1ZYQ1 (UniProtKB/TrEMBL),   A8JZY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000326042   ⟸   ENST00000321253
Protein Domains
Tubulin/FtsZ 2-layer sandwich   Tubulin/FtsZ GTPase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0DPH8-F1-model_v2 AlphaFold P0DPH8 1-450 view protein structure

Promoters
RGD ID:6861590
Promoter ID:EPDNEW_H3960
Type:initiation region
Name:TUBA3D_1
Description:tubulin alpha 3d
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
GRCh382131,476,119 - 131,476,179EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24071 AgrOrtholog
COSMIC TUBA3D COSMIC
Ensembl Genes ENSG00000075886 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321253 ENTREZGENE
  ENST00000321253.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.600 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1330.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075886 GTEx
HGNC ID HGNC:24071 ENTREZGENE
Human Proteome Map TUBA3D Human Proteome Map
InterPro Alpha_tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tub_FtsZ_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_2-layer-sand-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_GTPase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_FtsZ_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113457 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:7278 UniProtKB/TrEMBL
NCBI Gene 113457 ENTREZGENE
OMIM 617878 OMIM
PANTHER PTHR11588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN ALPHA-1B CHAIN UniProtKB/TrEMBL
  TUBULIN ALPHA-3C CHAIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162407361 PharmGKB
PRINTS ALPHATUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NJQ0 ENTREZGENE
  A8JZY9 ENTREZGENE, UniProtKB/TrEMBL
  P0DPH7 ENTREZGENE
  P0DPH8 ENTREZGENE
  Q13748 ENTREZGENE
  Q1ZYQ1 ENTREZGENE, UniProtKB/TrEMBL
  Q5W099 ENTREZGENE
  Q6PEY3 ENTREZGENE
  Q96F18 ENTREZGENE
  TBA3D_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NJQ0 UniProtKB/Swiss-Prot
  Q13748 UniProtKB/Swiss-Prot
  Q5W099 UniProtKB/Swiss-Prot
  Q6PEY3 UniProtKB/Swiss-Prot
  Q96F18 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 TUBA3D  tubulin alpha 3d    tubulin, alpha 3d  Symbol and/or name change 5135510 APPROVED
2011-10-11 TUBA3D  tubulin, alpha 3d  TUBA3D  tubulin, alpha 3d  Symbol and/or name change 5135510 APPROVED