TUBAL3 (tubulin alpha like 3) - Rat Genome Database

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Gene: TUBAL3 (tubulin alpha like 3) Homo sapiens
Analyze
Symbol: TUBAL3
Name: tubulin alpha like 3
RGD ID: 1313230
HGNC Page HGNC:23534
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 be located in microtubule cytoskeleton. Predicted to be active in cytoplasm and microtubule.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ21665; MGC119347; MGC119349; tubulin alpha chain-like 3; tubulin, alpha-like 3
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38105,393,101 - 5,404,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl105,393,101 - 5,404,828 (-)EnsemblGRCh38hg38GRCh38
GRCh37105,435,064 - 5,446,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36105,425,061 - 5,436,795 (-)NCBINCBI36Build 36hg18NCBI36
Build 34105,425,061 - 5,436,793NCBI
Celera105,365,751 - 5,377,481 (-)NCBICelera
Cytogenetic Map10p15.1NCBI
HuRef105,364,310 - 5,376,040 (-)NCBIHuRef
CHM1_1105,435,075 - 5,446,807 (-)NCBICHM1_1
T2T-CHM13v2.0105,396,486 - 5,408,211 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:18187620   PMID:19240061   PMID:19380743   PMID:21360678   PMID:21873635   PMID:24453475   PMID:24457600   PMID:25798074   PMID:26186194   PMID:26638075  
PMID:28302793   PMID:28330616   PMID:28378594   PMID:28514442   PMID:28581483   PMID:29229926   PMID:29507755   PMID:29568061   PMID:29802200   PMID:29845934   PMID:30274258   PMID:30349055  
PMID:30425250   PMID:30463901   PMID:31501420   PMID:31586073   PMID:32433965   PMID:33567341   PMID:33961781   PMID:34079125   PMID:34650049   PMID:34709727   PMID:35256949   PMID:35509820  
PMID:36282215   PMID:36574265   PMID:36736316   PMID:37267103   PMID:37616343   PMID:38803224  


Genomics

Comparative Map Data
TUBAL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38105,393,101 - 5,404,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl105,393,101 - 5,404,828 (-)EnsemblGRCh38hg38GRCh38
GRCh37105,435,064 - 5,446,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36105,425,061 - 5,436,795 (-)NCBINCBI36Build 36hg18NCBI36
Build 34105,425,061 - 5,436,793NCBI
Celera105,365,751 - 5,377,481 (-)NCBICelera
Cytogenetic Map10p15.1NCBI
HuRef105,364,310 - 5,376,040 (-)NCBIHuRef
CHM1_1105,435,075 - 5,446,807 (-)NCBICHM1_1
T2T-CHM13v2.0105,396,486 - 5,408,211 (-)NCBIT2T-CHM13v2.0
Tubal3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39133,974,695 - 3,985,277 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl133,968,274 - 3,985,277 (+)EnsemblGRCm39 Ensembl
GRCm38133,924,654 - 3,935,277 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl133,918,274 - 3,935,277 (+)EnsemblGRCm38mm10GRCm38
MGSCv37133,923,941 - 3,934,523 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36133,923,941 - 3,934,522 (+)NCBIMGSCv36mm8
Celera133,911,503 - 3,922,156 (+)NCBICelera
Cytogenetic Map13A1NCBI
cM Map132.19NCBI
Tubal3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81771,233,194 - 71,245,297 (-)NCBIGRCr8
mRatBN7.21766,323,733 - 66,332,423 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1766,323,733 - 66,335,355 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1769,797,730 - 69,806,391 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01773,626,559 - 73,635,216 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01767,669,558 - 67,678,215 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01769,974,272 - 69,982,957 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1769,974,272 - 69,982,957 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01771,677,393 - 71,689,465 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41777,496,632 - 77,505,317 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11777,507,464 - 77,519,110 (-)NCBI
Celera1765,829,390 - 65,838,075 (-)NCBICelera
Cytogenetic Map17q12.2NCBI
TUBAL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2817,949,991 - 18,002,800 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11017,955,312 - 18,008,123 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0105,438,493 - 5,450,210 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1105,424,804 - 5,436,517 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl105,424,484 - 5,436,529 (-)Ensemblpanpan1.1panPan2
TUBAL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1230,523,678 - 30,531,909 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl230,523,652 - 30,532,263 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha227,553,248 - 27,561,453 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0230,904,138 - 30,912,375 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl230,904,136 - 30,912,716 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1228,000,262 - 28,008,460 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0228,837,369 - 28,845,572 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0229,554,952 - 29,563,189 (+)NCBIUU_Cfam_GSD_1.0
Tubal3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934432,891,247 - 32,906,304 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364849,062,478 - 9,072,988 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364849,066,097 - 9,073,049 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TUBAL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1065,476,227 - 65,488,116 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11065,476,215 - 65,487,334 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21071,595,275 - 71,607,484 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TUBAL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.195,515,163 - 5,527,043 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605110,769,619 - 10,781,432 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tubal3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624796115,091 - 123,436 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624796102,139 - 123,446 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TUBAL3
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 copy number gain See cases [RCV000051132] Chr10:90421..6769994 [GRCh38]
Chr10:224406..6811956 [GRCh37]
Chr10:126361..6851962 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 copy number gain See cases [RCV000051107] Chr10:90421..8442783 [GRCh38]
Chr10:224406..8484746 [GRCh37]
Chr10:126361..8524752 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 copy number loss See cases [RCV000052493] Chr10:69260..6209368 [GRCh38]
Chr10:224406..6251331 [GRCh37]
Chr10:105200..6291337 [NCBI36]
Chr10:10p15.3-15.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|See cases [RCV000053511] Chr10:90421..7085100 [GRCh38]
Chr10:224406..7127062 [GRCh37]
Chr10:126361..7167068 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
NM_001171864.1(TUBAL3):c.440C>T (p.Ala147Val) single nucleotide variant Malignant melanoma [RCV000068977] Chr10:5394298 [GRCh38]
Chr10:5436261 [GRCh37]
Chr10:5426261 [NCBI36]
Chr10:10p15.1		 not provided
NM_001171864.1(TUBAL3):c.949G>A (p.Gly317Ser) single nucleotide variant Malignant melanoma [RCV000062043] Chr10:5393789 [GRCh38]
Chr10:5435752 [GRCh37]
Chr10:5425752 [NCBI36]
Chr10:10p15.1		 not provided
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 copy number gain See cases [RCV000135340] Chr10:73856..12815915 [GRCh38]
Chr10:119796..12857914 [GRCh37]
Chr10:109796..12897920 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1 copy number loss See cases [RCV000135820] Chr10:4605831..7403265 [GRCh38]
Chr10:4648023..7445227 [GRCh37]
Chr10:4638023..7485233 [NCBI36]
Chr10:10p15.1-14		 uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 copy number gain See cases [RCV000135533] Chr10:90421..11713049 [GRCh38]
Chr10:224406..11755048 [GRCh37]
Chr10:126361..11795054 [NCBI36]
Chr10:10p15.3-14		 pathogenic|uncertain significance
GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3 copy number gain See cases [RCV000137253] Chr10:4871826..5811361 [GRCh38]
Chr10:4914018..5853324 [GRCh37]
Chr10:4904018..5893330 [NCBI36]
Chr10:10p15.1		 uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13		 uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1(chr10:5161663-5599060)x1 copy number loss See cases [RCV000140807] Chr10:5161663..5599060 [GRCh38]
Chr10:5203626..5641023 [GRCh37]
Chr10:5193626..5681029 [NCBI36]
Chr10:10p15.1		 likely benign|uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 copy number gain See cases [RCV000142292] Chr10:54086..13205916 [GRCh38]
Chr10:100026..13247916 [GRCh37]
Chr10:90026..13287922 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 copy number gain See cases [RCV000142241] Chr10:1601172..9203729 [GRCh38]
Chr10:1643367..9245692 [GRCh37]
Chr10:1633367..9285698 [NCBI36]
Chr10:10p15.3-14		 likely pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1 copy number loss See cases [RCV000239795] Chr10:2593113..8484746 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1 copy number loss See cases [RCV000446357] Chr10:136361..8850609 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3 copy number gain See cases [RCV000445989] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 copy number loss See cases [RCV000512541] Chr10:100026..12842179 [GRCh37]
Chr10:10p15.3-13		 pathogenic
Single allele deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31		 pathogenic
Single allele duplication Schizophrenia [RCV000754118] Chr10:3076972..6208037 [GRCh38]
Chr10:10p15.2-15.1		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 copy number gain not provided [RCV000749463] Chr10:69083..12887271 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_024803.3(TUBAL3):c.471G>A (p.Thr157=) single nucleotide variant not provided [RCV000949958] Chr10:5394387 [GRCh38]
Chr10:5436350 [GRCh37]
Chr10:10p15.1		 benign
NM_024803.3(TUBAL3):c.1017C>T (p.Ile339=) single nucleotide variant not provided [RCV000949333] Chr10:5393841 [GRCh38]
Chr10:5435804 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.1(chr10:5201443-5658539)x1 copy number loss not provided [RCV001006293] Chr10:5201443..5658539 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_024803.3(TUBAL3):c.55G>A (p.Ala19Thr) single nucleotide variant not provided [RCV000994346]|not specified [RCV004030172] Chr10:5401036 [GRCh38]
Chr10:5442999 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_024803.3(TUBAL3):c.838G>A (p.Ala280Thr) single nucleotide variant not provided [RCV000994345] Chr10:5394020 [GRCh38]
Chr10:5435983 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.333G>A (p.Ala111=) single nucleotide variant not provided [RCV000889506] Chr10:5395390 [GRCh38]
Chr10:5437353 [GRCh37]
Chr10:10p15.1		 likely benign
NM_024803.3(TUBAL3):c.405G>C (p.Gln135His) single nucleotide variant not provided [RCV000956802] Chr10:5394453 [GRCh38]
Chr10:5436416 [GRCh37]
Chr10:10p15.1		 benign
NM_024803.3(TUBAL3):c.876G>C (p.Gln292His) single nucleotide variant not specified [RCV004109129] Chr10:5393982 [GRCh38]
Chr10:5435945 [GRCh37]
Chr10:10p15.1		 uncertain significance
Single allele deletion not provided [RCV001391669] Chr10:120001..6920000 [GRCh37]
Chr10:10p15.3-14		 pathogenic
NC_000010.10:g.(?_5238831)_(6104114_?)dup duplication Immunodeficiency due to CD25 deficiency [RCV001913798] Chr10:5238831..6104114 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296) copy number gain not specified [RCV002052861] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3 copy number gain not provided [RCV001827671] Chr10:4927427..6653936 [GRCh37]
Chr10:10p15.1-14		 uncertain significance
NM_024803.3(TUBAL3):c.270C>G (p.His90Gln) single nucleotide variant not specified [RCV004287649] Chr10:5395453 [GRCh38]
Chr10:5437416 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1238A>G (p.His413Arg) single nucleotide variant not specified [RCV004329483] Chr10:5393620 [GRCh38]
Chr10:5435583 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1319A>T (p.Glu440Val) single nucleotide variant not specified [RCV004314417] Chr10:5393539 [GRCh38]
Chr10:5435502 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3 copy number gain not provided [RCV002472393] Chr10:100027..12648149 [GRCh37]
Chr10:10p15.3-13		 uncertain significance
NM_024803.3(TUBAL3):c.646G>C (p.Val216Leu) single nucleotide variant not specified [RCV004081190] Chr10:5394212 [GRCh38]
Chr10:5436175 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1036C>T (p.His346Tyr) single nucleotide variant not specified [RCV004141970] Chr10:5393822 [GRCh38]
Chr10:5435785 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.331G>A (p.Ala111Thr) single nucleotide variant not specified [RCV004223813] Chr10:5395392 [GRCh38]
Chr10:5437355 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1105G>A (p.Val369Met) single nucleotide variant not specified [RCV004100163] Chr10:5393753 [GRCh38]
Chr10:5435716 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.827T>A (p.Met276Lys) single nucleotide variant not specified [RCV004202244] Chr10:5394031 [GRCh38]
Chr10:5435994 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.47T>A (p.Ile16Asn) single nucleotide variant not specified [RCV004162439] Chr10:5401044 [GRCh38]
Chr10:5443007 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.388C>T (p.Arg130Trp) single nucleotide variant not specified [RCV004103144] Chr10:5395335 [GRCh38]
Chr10:5437298 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.569A>G (p.Glu190Gly) single nucleotide variant not specified [RCV004178717] Chr10:5394289 [GRCh38]
Chr10:5436252 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1018G>A (p.Ala340Thr) single nucleotide variant not specified [RCV004195740] Chr10:5393840 [GRCh38]
Chr10:5435803 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.25A>G (p.Ile9Val) single nucleotide variant not specified [RCV004095666] Chr10:5401066 [GRCh38]
Chr10:5443029 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.844A>G (p.Ile282Val) single nucleotide variant not specified [RCV004263134] Chr10:5394014 [GRCh38]
Chr10:5435977 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.271C>T (p.Arg91Cys) single nucleotide variant not specified [RCV004273224] Chr10:5395452 [GRCh38]
Chr10:5437415 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1321G>C (p.Glu441Gln) single nucleotide variant not specified [RCV004314419] Chr10:5393537 [GRCh38]
Chr10:5435500 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.173C>A (p.Thr58Asn) single nucleotide variant not specified [RCV004354859] Chr10:5400918 [GRCh38]
Chr10:5442881 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1076A>C (p.Lys359Thr) single nucleotide variant not specified [RCV004354679] Chr10:5393782 [GRCh38]
Chr10:5435745 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1080G>A (p.Val360=) single nucleotide variant not provided [RCV003417200] Chr10:5393778 [GRCh38]
Chr10:5435741 [GRCh37]
Chr10:10p15.1		 likely benign
NM_024803.3(TUBAL3):c.724G>A (p.Val242Ile) single nucleotide variant not provided [RCV003417201] Chr10:5394134 [GRCh38]
Chr10:5436097 [GRCh37]
Chr10:10p15.1		 likely benign
NM_024803.3(TUBAL3):c.272G>C (p.Arg91Pro) single nucleotide variant not provided [RCV003417202] Chr10:5395451 [GRCh38]
Chr10:5437414 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3 copy number gain See cases [RCV004442806] Chr10:1274308..12045503 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
NM_024803.3(TUBAL3):c.1166C>T (p.Thr389Met) single nucleotide variant not specified [RCV004481604] Chr10:5393692 [GRCh38]
Chr10:5435655 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1218C>T (p.Tyr406=) single nucleotide variant not specified [RCV004481605] Chr10:5393640 [GRCh38]
Chr10:5435603 [GRCh37]
Chr10:10p15.1		 likely benign
NM_024803.3(TUBAL3):c.1337T>A (p.Phe446Tyr) single nucleotide variant not specified [RCV004481607] Chr10:5393521 [GRCh38]
Chr10:5435484 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.148G>A (p.Glu50Lys) single nucleotide variant not specified [RCV004481608] Chr10:5400943 [GRCh38]
Chr10:5442906 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.223G>A (p.Val75Met) single nucleotide variant not specified [RCV004481609] Chr10:5400868 [GRCh38]
Chr10:5442831 [GRCh37]
Chr10:10p15.1		 likely benign
NM_024803.3(TUBAL3):c.254T>G (p.Ile85Ser) single nucleotide variant not specified [RCV004481610] Chr10:5395469 [GRCh38]
Chr10:5437432 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.283C>T (p.His95Tyr) single nucleotide variant not specified [RCV004481611] Chr10:5395440 [GRCh38]
Chr10:5437403 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.285C>A (p.His95Gln) single nucleotide variant not specified [RCV004481612] Chr10:5395438 [GRCh38]
Chr10:5437401 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.466T>C (p.Phe156Leu) single nucleotide variant not specified [RCV004481613] Chr10:5394392 [GRCh38]
Chr10:5436355 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.515C>T (p.Thr172Ile) single nucleotide variant not specified [RCV004481614] Chr10:5394343 [GRCh38]
Chr10:5436306 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.607G>A (p.Glu203Lys) single nucleotide variant not specified [RCV004481615] Chr10:5394251 [GRCh38]
Chr10:5436214 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.646G>A (p.Val216Ile) single nucleotide variant not specified [RCV004481616] Chr10:5394212 [GRCh38]
Chr10:5436175 [GRCh37]
Chr10:10p15.1		 likely benign
NM_024803.3(TUBAL3):c.673G>A (p.Gly225Ser) single nucleotide variant not specified [RCV004481618] Chr10:5394185 [GRCh38]
Chr10:5436148 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.802C>A (p.Pro268Thr) single nucleotide variant not specified [RCV004481619] Chr10:5394056 [GRCh38]
Chr10:5436019 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.1031C>T (p.Ser344Leu) single nucleotide variant not specified [RCV004481603] Chr10:5393827 [GRCh38]
Chr10:5435790 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.812G>T (p.Arg271Ile) single nucleotide variant not specified [RCV004481620] Chr10:5394046 [GRCh38]
Chr10:5436009 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_024803.3(TUBAL3):c.944G>A (p.Arg315Gln) single nucleotide variant not specified [RCV004481621] Chr10:5393914 [GRCh38]
Chr10:5435877 [GRCh37]
Chr10:10p15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:265
Count of miRNA genes:167
Interacting mature miRNAs:169
Transcripts:ENST00000380419, ENST00000479328
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
WI-17065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,435,091 - 5,435,203UniSTSGRCh37
Build 36105,425,091 - 5,425,203RGDNCBI36
Celera105,365,781 - 5,365,893RGD
Cytogenetic Map10p15.1UniSTS
HuRef105,364,340 - 5,364,452UniSTS
GeneMap99-GB4 RH Map1048.9UniSTS
Whitehead-RH Map1052.7UniSTS
RH122226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,448,312 - 5,448,617UniSTSGRCh37
Build 36105,438,312 - 5,438,617RGDNCBI36
Celera105,379,002 - 5,379,307RGD
Cytogenetic Map10p15.1UniSTS
HuRef105,377,561 - 5,377,866UniSTS
TNG Radiation Hybrid Map102804.0UniSTS
G59728  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera105,365,785 - 5,365,892RGD
Cytogenetic Map10p15.1UniSTS
HuRef105,364,344 - 5,364,451UniSTS
TNG Radiation Hybrid Map102788.0UniSTS
Z94585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372040,613,909 - 40,614,043UniSTSGRCh37
Build 362040,047,323 - 40,047,457RGDNCBI36
Celera2037,324,546 - 37,324,680RGD
Cytogenetic Map10p15.1UniSTS
HuRef105,373,780 - 5,373,913UniSTS
HuRef2037,351,404 - 37,351,538UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1025 2254 2211 1781 3813 834 1542 4 301 780 144 2035 4595 4376 19 2861 645 1299 1180 170 1

Sequence


Ensembl Acc Id: ENST00000380419   ⟹   ENSP00000369784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl105,393,101 - 5,404,828 (-)Ensembl
Ensembl Acc Id: ENST00000479328   ⟹   ENSP00000418799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl105,393,269 - 5,404,828 (-)Ensembl
RefSeq Acc Id: NM_001171864   ⟹   NP_001165335
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38105,393,101 - 5,404,828 (-)NCBI
GRCh37105,435,061 - 5,446,793 (-)RGD
Celera105,365,751 - 5,377,481 (-)RGD
HuRef105,364,310 - 5,376,040 (-)ENTREZGENE
CHM1_1105,435,075 - 5,446,807 (-)NCBI
T2T-CHM13v2.0105,396,486 - 5,408,211 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024803   ⟹   NP_079079
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38105,393,101 - 5,404,828 (-)NCBI
GRCh37105,435,061 - 5,446,793 (-)RGD
Build 36105,425,061 - 5,436,795 (-)NCBI Archive
Celera105,365,751 - 5,377,481 (-)RGD
HuRef105,364,310 - 5,376,040 (-)ENTREZGENE
CHM1_1105,435,075 - 5,446,807 (-)NCBI
T2T-CHM13v2.0105,396,486 - 5,408,211 (-)NCBI
Sequence:
RefSeq Acc Id: NP_079079   ⟸   NM_024803
- Peptide Label: isoform 1
- UniProtKB: Q4QQJ5 (UniProtKB/Swiss-Prot),   B4DKL2 (UniProtKB/Swiss-Prot),   Q9H6Z0 (UniProtKB/Swiss-Prot),   A6NHL2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165335   ⟸   NM_001171864
- Peptide Label: isoform 2
- UniProtKB: A6NHL2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000418799   ⟸   ENST00000479328
Ensembl Acc Id: ENSP00000369784   ⟸   ENST00000380419

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NHL2-F1-model_v2 AlphaFold A6NHL2 1-446 view protein structure

Promoters
RGD ID:7216895
Promoter ID:EPDNEW_H14194
Type:multiple initiation site
Name:TUBAL3_1
Description:tubulin alpha like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14197  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38105,404,828 - 5,404,888EPDNEW
RGD ID:6788317
Promoter ID:HG_KWN:8436
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000315971,   OTTHUMT00000046548,   UC001IHZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36105,436,601 - 5,437,101 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23534 AgrOrtholog
COSMIC TUBAL3 COSMIC
Ensembl Genes ENSG00000178462 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380419 ENTREZGENE
  ENST00000380419.8 UniProtKB/Swiss-Prot
  ENST00000479328 ENTREZGENE
  ENST00000479328.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.600 UniProtKB/Swiss-Prot
  3.30.1330.20 UniProtKB/Swiss-Prot
  3.40.50.1440 UniProtKB/Swiss-Prot
GTEx ENSG00000178462 GTEx
HGNC ID HGNC:23534 ENTREZGENE
Human Proteome Map TUBAL3 Human Proteome Map
InterPro Alpha_tubulin UniProtKB/Swiss-Prot
  Tub_FtsZ_C UniProtKB/Swiss-Prot
  Tubulin UniProtKB/Swiss-Prot
  Tubulin/FtsZ_2-layer-sand-dom UniProtKB/Swiss-Prot
  Tubulin/FtsZ_C_sf UniProtKB/Swiss-Prot
  Tubulin/FtsZ_GTPase_sf UniProtKB/Swiss-Prot
  Tubulin_C UniProtKB/Swiss-Prot
  Tubulin_CS UniProtKB/Swiss-Prot
  Tubulin_FtsZ_GTPase UniProtKB/Swiss-Prot
KEGG Report hsa:79861 UniProtKB/Swiss-Prot
NCBI Gene 79861 ENTREZGENE
OMIM 620835 OMIM
PANTHER PTHR11588 UniProtKB/Swiss-Prot
  TUBULIN ALPHA CHAIN-LIKE 3 UniProtKB/Swiss-Prot
Pfam Tubulin UniProtKB/Swiss-Prot
  Tubulin_C UniProtKB/Swiss-Prot
PharmGKB PA134953102 PharmGKB
PRINTS ALPHATUBULIN UniProtKB/Swiss-Prot
  TUBULIN UniProtKB/Swiss-Prot
PROSITE TUBULIN UniProtKB/Swiss-Prot
SMART Tubulin UniProtKB/Swiss-Prot
  Tubulin_C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52490 UniProtKB/Swiss-Prot
  SSF55307 UniProtKB/Swiss-Prot
UniProt A6NHL2 ENTREZGENE
  B4DKL2 ENTREZGENE
  Q4QQJ5 ENTREZGENE
  Q9H6Z0 ENTREZGENE
  TBAL3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DKL2 UniProtKB/Swiss-Prot
  Q4QQJ5 UniProtKB/Swiss-Prot
  Q9H6Z0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 TUBAL3  tubulin alpha like 3    tubulin, alpha-like 3  Symbol and/or name change 5135510 APPROVED