TUBB8 (tubulin beta 8 class VIII) - Rat Genome Database

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Gene: TUBB8 (tubulin beta 8 class VIII) Homo sapiens
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Symbol: TUBB8
Name: tubulin beta 8 class VIII
RGD ID: 1605531
HGNC Page HGNC:20773
Description: Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in oocyte maturation and spindle assembly involved in female meiosis. Located in intercellular bridge and microtubule cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA631M21.2; class VIII beta-tubulin; FLJ40100; HSA10p15 beta-tubulin 4Q; OOMD; OOMD2; OZEMA2; RP11-631M21.2; tubulin beta-8 chain; tubulin, beta 8 class VIII
RGD Orthologs
Bonobo
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TUBB4BP6   TUBB4BP8   TUBB7P   TUBB8P1   TUBB8P10   TUBB8P11   TUBB8P2   TUBB8P3   TUBB8P5   TUBB8P6   TUBB8P7   TUBB8P8   TUBB8P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381046,455 - 76,621 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1046,888 - 74,163 (-)EnsemblGRCh38hg38GRCh38
GRCh371092,828 - 122,561 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361082,997 - 85,178 (-)NCBINCBI36Build 36hg18NCBI36
Celera1036,106 - 38,782 (-)NCBICelera
Cytogenetic Map10p15.3NCBI
HuRef1037,535 - 39,885 (-)NCBIHuRef
CHM1_11092,903 - 95,253 (-)NCBICHM1_1
T2T-CHM13v2.01039,271 - 69,557 (-)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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
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:10828619   PMID:10908577   PMID:11731935   PMID:12477932   PMID:12486001   PMID:16526095   PMID:17342744   PMID:18029348   PMID:19056867   PMID:21525035   PMID:21565611   PMID:21873635  
PMID:22863883   PMID:23246001   PMID:23349634   PMID:23533145   PMID:23667531   PMID:23826228   PMID:24337577   PMID:25609649   PMID:25940091   PMID:26186194   PMID:26460568   PMID:26673895  
PMID:26687479   PMID:26777405   PMID:26789871   PMID:26831064   PMID:26841866   PMID:27273344   PMID:27462432   PMID:27989988   PMID:28514442   PMID:28515276   PMID:28652098   PMID:28685749  
PMID:28718761   PMID:29511261   PMID:29671363   PMID:29704226   PMID:29845934   PMID:29877102   PMID:30097533   PMID:30297906   PMID:30455355   PMID:30804502   PMID:30833792   PMID:30865227  
PMID:31010829   PMID:31501420   PMID:31527615   PMID:31586073   PMID:31659016   PMID:31980649   PMID:32063091   PMID:32129710   PMID:32433965   PMID:32524331   PMID:32949002   PMID:33001583  
PMID:33009822   PMID:33059025   PMID:33961781   PMID:33970371   PMID:34160777   PMID:34373451   PMID:34428256   PMID:34494234   PMID:34509376   PMID:34644545   PMID:34650049   PMID:34857952  
PMID:35256949   PMID:35271311   PMID:35354490   PMID:35439318   PMID:35819319   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36273042   PMID:36335766   PMID:36463079  
PMID:36572190   PMID:36604567   PMID:36735156   PMID:37059091   PMID:37223481   PMID:37267103   PMID:37314216   PMID:37597348   PMID:37672871   PMID:37689310   PMID:37827155   PMID:37904145  
PMID:38007525   PMID:38891874  


Genomics

Comparative Map Data
TUBB8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381046,455 - 76,621 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1046,888 - 74,163 (-)EnsemblGRCh38hg38GRCh38
GRCh371092,828 - 122,561 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361082,997 - 85,178 (-)NCBINCBI36Build 36hg18NCBI36
Celera1036,106 - 38,782 (-)NCBICelera
Cytogenetic Map10p15.3NCBI
HuRef1037,535 - 39,885 (-)NCBIHuRef
CHM1_11092,903 - 95,253 (-)NCBICHM1_1
T2T-CHM13v2.01039,271 - 69,557 (-)NCBIT2T-CHM13v2.0
TUBB8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2812,543,353 - 12,573,253 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11012,548,675 - 12,578,583 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01056,937 - 61,125 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110140,033 - 142,500 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10140,194 - 142,372 (-)Ensemblpanpan1.1panPan2

Variants

.
Variants in TUBB8
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p15.3(chr10:14062-622709)x1 copy number loss See cases [RCV000053239] Chr10:14062..622709 [GRCh38]
Chr10:60001..668649 [GRCh37]
Chr10:5077..658649 [NCBI36]
Chr10:10p15.3		 uncertain significance
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
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(chr10:70478-1759743)x3 copy number gain See cases [RCV000138245] Chr10:70478..1759743 [GRCh38]
Chr10:224406..1801937 [GRCh37]
Chr10:106418..1791937 [NCBI36]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.5G>A (p.Arg2Lys) single nucleotide variant Oocyte maturation defect 2 [RCV000207037] Chr10:49234 [GRCh38]
Chr10:95174 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.686T>C (p.Val229Ala) single nucleotide variant Oocyte maturation defect 2 [RCV000207100] Chr10:47706 [GRCh38]
Chr10:93646 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.1249G>A (p.Asp417Asn) single nucleotide variant Oocyte maturation defect 2 [RCV000207225] Chr10:47143 [GRCh38]
Chr10:93083 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.527C>T (p.Ser176Leu) single nucleotide variant Oocyte maturation defect 2 [RCV000208753] Chr10:47865 [GRCh38]
Chr10:93805 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.900G>A (p.Met300Ile) single nucleotide variant Oocyte maturation defect 2 [RCV000208765] Chr10:47492 [GRCh38]
Chr10:93432 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.785G>A (p.Arg262Gln) single nucleotide variant Oocyte maturation defect 2 [RCV000208767] Chr10:47607 [GRCh38]
Chr10:93547 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.1088T>C (p.Met363Thr) single nucleotide variant Oocyte maturation defect 2 [RCV000208778] Chr10:47304 [GRCh38]
Chr10:93244 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.80_100del (p.Glu27_Ala33del) deletion Oocyte maturation defect 2 [RCV000419031] Chr10:48870..48890 [GRCh38]
Chr10:94810..94830 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.426dup (p.Thr143fs) duplication Oocyte maturation defect 2 [RCV000428882] Chr10:47965..47966 [GRCh38]
Chr10:93905..93906 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.713C>T (p.Thr238Met) single nucleotide variant Oocyte maturation defect 2 [RCV000439790] Chr10:47679 [GRCh38]
Chr10:93619 [GRCh37]
Chr10:10p15.3		 pathogenic
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
NM_177987.3(TUBB8):c.283T>C (p.Cys95Arg) single nucleotide variant Inborn genetic diseases [RCV003280916] Chr10:48109 [GRCh38]
Chr10:94049 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.600T>G (p.Phe200Leu) single nucleotide variant Female infertility [RCV000625733] Chr10:47792 [GRCh38]
Chr10:93732 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.278-82G>A single nucleotide variant Oocyte maturation defect 2 [RCV001543791]|not provided [RCV004718885] Chr10:48196 [GRCh38]
Chr10:94136 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.58-18T>C single nucleotide variant Oocyte maturation defect 2 [RCV001543794]|not provided [RCV004718888] Chr10:48930 [GRCh38]
Chr10:94870 [GRCh37]
Chr10:10p15.3		 benign
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_177987.2(TUBB8):c.-175C>T single nucleotide variant Oocyte maturation defect 2 [RCV001543801]|not provided [RCV004718895] Chr10:49413 [GRCh38]
Chr10:95353 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.845G>C (p.Arg282Pro) single nucleotide variant Oocyte maturation defect 2 [RCV000993796] Chr10:47547 [GRCh38]
Chr10:93487 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.729G>A (p.Pro243=) single nucleotide variant Oocyte maturation defect 2 [RCV001543790]|not provided [RCV004718884] Chr10:47663 [GRCh38]
Chr10:93603 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.763G>A (p.Val255Met) single nucleotide variant Inherited oocyte maturation defect [RCV000856582] Chr10:47629 [GRCh38]
Chr10:93569 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.96C>T (p.Ser32=) single nucleotide variant not provided [RCV000972266] Chr10:48874 [GRCh38]
Chr10:94814 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.273C>T (p.Ile91=) single nucleotide variant not provided [RCV000963067] Chr10:48619 [GRCh38]
Chr10:94559 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.87C>T (p.Ala29=) single nucleotide variant not provided [RCV000893404] Chr10:48883 [GRCh38]
Chr10:94823 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.843C>G (p.Tyr281Ter) single nucleotide variant CIC-rearranged sarcoma [RCV000993830] Chr10:47549 [GRCh38]
Chr10:93489 [GRCh37]
Chr10:10p15.3		 not provided
NM_177987.3(TUBB8):c.735G>C (p.Gln245His) single nucleotide variant Oocyte maturation defect 2 [RCV000845259] Chr10:47657 [GRCh38]
Chr10:93597 [GRCh37]
Chr10:10p15.3		 likely pathogenic|uncertain significance
NM_177987.3(TUBB8):c.277+10G>A single nucleotide variant Oocyte maturation defect 2 [RCV001543793]|not provided [RCV004718887] Chr10:48605 [GRCh38]
Chr10:94545 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.-51G>A single nucleotide variant Oocyte maturation defect 2 [RCV001543800]|not provided [RCV004718894] Chr10:49289 [GRCh38]
Chr10:95229 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.1301_1327del (p.Glu434_Glu442del) deletion not provided [RCV001532115] Chr10:47065..47091 [GRCh38]
Chr10:93005..93031 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.9G>A (p.Glu3=) single nucleotide variant not provided [RCV000955412] Chr10:49230 [GRCh38]
Chr10:95170 [GRCh37]
Chr10:10p15.3		 benign|likely benign
NM_177987.3(TUBB8):c.225T>C (p.Ser75=) single nucleotide variant not provided [RCV000898525] Chr10:48667 [GRCh38]
Chr10:94607 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.180G>A (p.Val60=) single nucleotide variant not provided [RCV000910485] Chr10:48712 [GRCh38]
Chr10:94652 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.210G>A (p.Pro70=) single nucleotide variant not provided [RCV000911543] Chr10:48682 [GRCh38]
Chr10:94622 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.264C>T (p.Asp88=) single nucleotide variant not provided [RCV000890482] Chr10:48628 [GRCh38]
Chr10:94568 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.277+129G>A single nucleotide variant Oocyte maturation defect 2 [RCV001543792]|not provided [RCV004718886] Chr10:48486 [GRCh38]
Chr10:94426 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.58-20T>G single nucleotide variant Oocyte maturation defect 2 [RCV001543796]|not provided [RCV004718890] Chr10:48932 [GRCh38]
Chr10:94872 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.57+48C>T single nucleotide variant Oocyte maturation defect 2 [RCV001543797]|not provided [RCV004718891] Chr10:49134 [GRCh38]
Chr10:95074 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.57+26T>C single nucleotide variant Oocyte maturation defect 2 [RCV001543798]|not provided [RCV004718892] Chr10:49156 [GRCh38]
Chr10:95096 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.-48T>A single nucleotide variant Oocyte maturation defect 2 [RCV001543799]|not provided [RCV004718893] Chr10:49286 [GRCh38]
Chr10:95226 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.292G>A (p.Gly98Arg) single nucleotide variant Oocyte maturation defect 2 [RCV001255449] Chr10:48100 [GRCh38]
Chr10:94040 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.893A>G (p.Asn298Ser) single nucleotide variant Oocyte maturation defect 2 [RCV001255460] Chr10:47499 [GRCh38]
Chr10:93439 [GRCh37]
Chr10:10p15.3		 pathogenic|likely pathogenic
NM_177987.3(TUBB8):c.722G>A (p.Arg241His) single nucleotide variant Oocyte maturation defect 2 [RCV001255453] Chr10:47670 [GRCh38]
Chr10:93610 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.550A>G (p.Asn184Asp) single nucleotide variant Oocyte maturation defect 2 [RCV001255439] Chr10:47842 [GRCh38]
Chr10:93782 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.539T>C (p.Val180Ala) single nucleotide variant Oocyte maturation defect 2 [RCV001255438] Chr10:47853 [GRCh38]
Chr10:93793 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1189T>G (p.Trp397Gly) single nucleotide variant Oocyte maturation defect 2 [RCV001255435] Chr10:47203 [GRCh38]
Chr10:93143 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.367G>A (p.Glu123Lys) single nucleotide variant Oocyte maturation defect 2 [RCV001255437] Chr10:48025 [GRCh38]
Chr10:93965 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.544C>T (p.Pro182Ser) single nucleotide variant Oocyte maturation defect 2 [RCV001255445] Chr10:47848 [GRCh38]
Chr10:93788 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1045G>A (p.Val349Ile) single nucleotide variant Oocyte maturation defect 2 [RCV001255457]|not specified [RCV002246245] Chr10:47347 [GRCh38]
Chr10:93287 [GRCh37]
Chr10:10p15.3		 likely pathogenic|uncertain significance
NM_177987.3(TUBB8):c.613G>A (p.Glu205Lys) single nucleotide variant Oocyte maturation defect 2 [RCV001255456] Chr10:47779 [GRCh38]
Chr10:93719 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.535G>A (p.Val179Met) single nucleotide variant Oocyte maturation defect 2 [RCV001255452] Chr10:47857 [GRCh38]
Chr10:93797 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1073C>T (p.Pro358Leu) single nucleotide variant Oocyte maturation defect 2 [RCV001255451] Chr10:47319 [GRCh38]
Chr10:93259 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1172G>A (p.Arg391His) single nucleotide variant Oocyte maturation defect 2 [RCV001255450] Chr10:47220 [GRCh38]
Chr10:93160 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.728C>T (p.Pro243Leu) single nucleotide variant Oocyte maturation defect 2 [RCV001255448] Chr10:47664 [GRCh38]
Chr10:93604 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.136C>T (p.Arg46Cys) single nucleotide variant Oocyte maturation defect 2 [RCV001255444] Chr10:48834 [GRCh38]
Chr10:94774 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.629T>A (p.Ile210Lys) single nucleotide variant Oocyte maturation defect 2 [RCV001255443] Chr10:47763 [GRCh38]
Chr10:93703 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.422G>C (p.Gly141Ala) single nucleotide variant Oocyte maturation defect 2 [RCV001255434] Chr10:47970 [GRCh38]
Chr10:93910 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.938C>T (p.Ala313Val) single nucleotide variant Oocyte maturation defect 2 [RCV001255454]|not specified [RCV002246244] Chr10:47454 [GRCh38]
Chr10:93394 [GRCh37]
Chr10:10p15.3		 likely pathogenic|uncertain significance
NM_177987.3(TUBB8):c.1139G>A (p.Arg380His) single nucleotide variant Oocyte maturation defect 2 [RCV001255459]|not provided [RCV004017811] Chr10:47253 [GRCh38]
Chr10:93193 [GRCh37]
Chr10:10p15.3		 likely pathogenic|uncertain significance
NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp) single nucleotide variant Oocyte maturation defect 2 [RCV001255442] Chr10:47214 [GRCh38]
Chr10:93154 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1271A>G (p.Gln424Arg) single nucleotide variant Oocyte maturation defect 2 [RCV001255441] Chr10:47121 [GRCh38]
Chr10:93061 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.394G>T (p.Gly132Cys) single nucleotide variant Oocyte maturation defect 2 [RCV001255433] Chr10:47998 [GRCh38]
Chr10:93938 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.10A>C (p.Ile4Leu) single nucleotide variant Oocyte maturation defect 2 [RCV001255458] Chr10:49229 [GRCh38]
Chr10:95169 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1203_1204insCT (p.Gly402fs) insertion Oocyte maturation defect 2 [RCV001255447] Chr10:47188..47189 [GRCh38]
Chr10:93128..93129 [GRCh37]
Chr10:10p15.3		 pathogenic
NM_177987.3(TUBB8):c.516G>A (p.Ser172=) single nucleotide variant Oocyte maturation defect 2 [RCV001543795]|not provided [RCV004718889] Chr10:47876 [GRCh38]
Chr10:93816 [GRCh37]
Chr10:10p15.3		 benign
NM_177987.3(TUBB8):c.1163T>C (p.Met388Thr) single nucleotide variant Oocyte maturation defect 2 [RCV001255436] Chr10:47229 [GRCh38]
Chr10:93169 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.940G>T (p.Ala314Ser) single nucleotide variant Oocyte maturation defect 2 [RCV001255461] Chr10:47452 [GRCh38]
Chr10:93392 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1130T>C (p.Leu377Pro) single nucleotide variant Oocyte maturation defect 2 [RCV001255455] Chr10:47262 [GRCh38]
Chr10:93202 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.594G>C (p.Glu198Asp) single nucleotide variant Oocyte maturation defect 2 [RCV001255446] Chr10:47798 [GRCh38]
Chr10:93738 [GRCh37]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.1242C>G (p.Asn414Lys) single nucleotide variant Oocyte maturation defect 2 [RCV001255440] Chr10:47150 [GRCh38]
Chr10:93090 [GRCh37]
Chr10:10p15.3		 likely pathogenic
GRCh38/hg38 10p15.3(chr10:73856-182858)x3 copy number gain See cases [RCV000135255] Chr10:73856..182858 [GRCh38]
Chr10:119796..228798 [GRCh37]
Chr10:109796..218798 [NCBI36]
Chr10:10p15.3		 likely benign
GRCh38/hg38 10p15.3(chr10:70478-1042794)x1 copy number loss See cases [RCV000139192] Chr10:70478..1042794 [GRCh38]
Chr10:224406..1088734 [GRCh37]
Chr10:106418..1078734 [NCBI36]
Chr10:10p15.3		 likely pathogenic
GRCh38/hg38 10p15.3(chr10:70478-770688)x1 copy number loss See cases [RCV000139016] Chr10:70478..770688 [GRCh38]
Chr10:224406..816628 [GRCh37]
Chr10:106418..806628 [NCBI36]
Chr10:10p15.3		 likely pathogenic
GRCh38/hg38 10p15.3(chr10:54086-1600803)x1 copy number loss See cases [RCV000142235] Chr10:54086..1600803 [GRCh38]
Chr10:100026..1642998 [GRCh37]
Chr10:90026..1632998 [NCBI36]
Chr10:10p15.3		 pathogenic
GRCh38/hg38 10p15.3(chr10:70478-312686)x1 copy number loss See cases [RCV000137355] Chr10:70478..312686 [GRCh38]
Chr10:224406..358626 [GRCh37]
Chr10:106418..348626 [NCBI36]
Chr10:10p15.3		 likely pathogenic
NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser) single nucleotide variant Oocyte maturation defect 2 [RCV001290509] Chr10:47470 [GRCh38]
Chr10:93410 [GRCh37]
Chr10:10p15.3		 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 10p15.3-13(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 10p15.3(chr10:70478-457520)x1 copy number loss See cases [RCV000137590] Chr10:70478..457520 [GRCh38]
Chr10:224406..503460 [GRCh37]
Chr10:106418..493460 [NCBI36]
Chr10:10p15.3		 uncertain significance
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 10p15.3-13(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 10p15.3-15.1(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
GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1 copy number loss Neurooculocardiogenitourinary syndrome [RCV001801187] Chr10:60501..5238964 [GRCh37]
Chr10:10p15.3-15.1		 pathogenic
NM_177987.3(TUBB8):c.-42T>C single nucleotide variant Streaky metaphyseal sclerosis [RCV002463836] Chr10:49280 [GRCh38]
Chr10:95220 [GRCh37]
Chr10:10p15.3		 not provided
NM_177987.3(TUBB8):c.389T>G (p.Leu130Arg) single nucleotide variant Inborn genetic diseases [RCV002817797] Chr10:48003 [GRCh38]
Chr10:93943 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.515C>T (p.Ser172Leu) single nucleotide variant Inborn genetic diseases [RCV002879768] Chr10:47877 [GRCh38]
Chr10:93817 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.762C>G (p.Ala254=) single nucleotide variant not provided [RCV002511627] Chr10:47630 [GRCh38]
Chr10:93570 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.302G>C (p.Trp101Ser) single nucleotide variant Inborn genetic diseases [RCV002973162] Chr10:48090 [GRCh38]
Chr10:94030 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.512C>T (p.Pro171Leu) single nucleotide variant Inborn genetic diseases [RCV002887425] Chr10:47880 [GRCh38]
Chr10:93820 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.559C>T (p.Leu187Phe) single nucleotide variant Inborn genetic diseases [RCV002661463] Chr10:47833 [GRCh38]
Chr10:93773 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.124C>G (p.Leu42Val) single nucleotide variant not provided [RCV003222665] Chr10:48846 [GRCh38]
Chr10:94786 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.867T>C (p.Leu289=) single nucleotide variant not provided [RCV003326786] Chr10:47525 [GRCh38]
Chr10:93465 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.604A>G (p.Ile202Val) single nucleotide variant Inborn genetic diseases [RCV003375808] Chr10:47788 [GRCh38]
Chr10:93728 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.414C>T (p.Ser138=) single nucleotide variant not provided [RCV003417177] Chr10:47978 [GRCh38]
Chr10:93918 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.291C>A (p.Ala97=) single nucleotide variant not provided [RCV003886123] Chr10:48101 [GRCh38]
Chr10:94041 [GRCh37]
Chr10:10p15.3		 likely benign
NM_177987.3(TUBB8):c.1036C>A (p.Pro346Thr) single nucleotide variant Oocyte maturation defect 2 [RCV003991825] Chr10:47356 [GRCh38]
Chr10:93296 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.166G>A (p.Gly56Ser) single nucleotide variant Oocyte maturation defect 2 [RCV003991871] Chr10:48804 [GRCh38]
Chr10:94744 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.76G>A (p.Asp26Asn) single nucleotide variant Inborn genetic diseases [RCV004481634] Chr10:48894 [GRCh38]
Chr10:94834 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.635C>G (p.Ser212Cys) single nucleotide variant Inborn genetic diseases [RCV004687870] Chr10:47757 [GRCh38]
Chr10:93697 [GRCh37]
Chr10:10p15.3		 uncertain significance
NM_177987.3(TUBB8):c.1199G>A (p.Gly400Asp) single nucleotide variant not provided [RCV004599139] Chr10:47193 [GRCh38]
Chr10:93133 [GRCh37]
Chr10:10p15.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1161
Count of miRNA genes:652
Interacting mature miRNAs:741
Transcripts:ENST00000309812, ENST00000332708, ENST00000413237, ENST00000447903, ENST00000482075
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
RH93426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q35UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map10p15.3UniSTS


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
1073 1729 1690 1254 4272 1327 1647 2 276 787 155 1748 3794 3954 36 3409 533 1432 1255 131

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF355127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000561967   ⟹   ENSP00000454878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1047,057 - 49,293 (-)Ensembl
Ensembl Acc Id: ENST00000562809   ⟹   ENSP00000456899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1047,494 - 49,269 (-)Ensembl
Ensembl Acc Id: ENST00000563456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1047,705 - 49,269 (-)Ensembl
Ensembl Acc Id: ENST00000564130   ⟹   ENSP00000457610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,892 - 74,163 (-)Ensembl
Ensembl Acc Id: ENST00000567466   ⟹   ENSP00000454914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1047,578 - 49,521 (-)Ensembl
Ensembl Acc Id: ENST00000568584   ⟹   ENSP00000456206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,888 - 49,296 (-)Ensembl
Ensembl Acc Id: ENST00000568866   ⟹   ENSP00000457062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,953 - 49,277 (-)Ensembl
RefSeq Acc Id: NM_001389618   ⟹   NP_001376547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,892 - 76,621 (-)NCBI
T2T-CHM13v2.01039,853 - 69,557 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389619   ⟹   NP_001376548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,892 - 74,230 (-)NCBI
T2T-CHM13v2.01039,853 - 67,172 (-)NCBI
Sequence:
RefSeq Acc Id: NM_177987   ⟹   NP_817124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,888 - 49,296 (-)NCBI
GRCh371092,828 - 95,178 (-)ENTREZGENE
Build 361082,997 - 85,178 (-)NCBI Archive
Celera1036,106 - 38,782 (-)RGD
HuRef1037,535 - 39,885 (-)ENTREZGENE
CHM1_11092,903 - 95,253 (-)NCBI
T2T-CHM13v2.01039,849 - 42,257 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016193   ⟹   XP_016871682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,892 - 48,458 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425177   ⟹   XP_047281133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,455 - 48,912 (-)NCBI
RefSeq Acc Id: XM_054365757   ⟹   XP_054221732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01039,271 - 41,873 (-)NCBI
RefSeq Acc Id: NP_817124   ⟸   NM_177987
- Peptide Label: isoform 1
- UniProtKB: Q5SQX9 (UniProtKB/Swiss-Prot),   Q8WZ78 (UniProtKB/Swiss-Prot),   Q3ZCM7 (UniProtKB/Swiss-Prot),   A0A075B736 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871682   ⟸   XM_017016193
- Peptide Label: isoform X1
- UniProtKB: Q9BUU9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000454878   ⟸   ENST00000561967
Ensembl Acc Id: ENSP00000456899   ⟸   ENST00000562809
Ensembl Acc Id: ENSP00000457610   ⟸   ENST00000564130
Ensembl Acc Id: ENSP00000454914   ⟸   ENST00000567466
Ensembl Acc Id: ENSP00000457062   ⟸   ENST00000568866
Ensembl Acc Id: ENSP00000456206   ⟸   ENST00000568584
RefSeq Acc Id: NP_001376547   ⟸   NM_001389618
- Peptide Label: isoform 2
- UniProtKB: B4DQN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001376548   ⟸   NM_001389619
- Peptide Label: isoform 2
- UniProtKB: B4DQN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281133   ⟸   XM_047425177
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054221732   ⟸   XM_054365757
- Peptide Label: isoform X2
Protein Domains
Tubulin/FtsZ 2-layer sandwich   Tubulin/FtsZ GTPase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3ZCM7-F1-model_v2 AlphaFold Q3ZCM7 1-444 view protein structure

Promoters
RGD ID:7216839
Promoter ID:EPDNEW_H14161
Type:initiation region
Name:TUBB8_1
Description:tubulin beta 8 class VIII
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381076,638 - 76,698EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20773 AgrOrtholog
COSMIC TUBB8 COSMIC
Ensembl Genes ENSG00000261456 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000561967.1 UniProtKB/TrEMBL
  ENST00000562809.1 UniProtKB/TrEMBL
  ENST00000564130.2 UniProtKB/TrEMBL
  ENST00000567466.1 UniProtKB/TrEMBL
  ENST00000568584 ENTREZGENE
  ENST00000568584.6 UniProtKB/Swiss-Prot
  ENST00000568866.5 UniProtKB/TrEMBL
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 ENSG00000261456 GTEx
HGNC ID HGNC:20773 ENTREZGENE
Human Proteome Map TUBB8 Human Proteome Map
InterPro Beta-tubulin_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta_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:347688 UniProtKB/Swiss-Prot
NCBI Gene 347688 ENTREZGENE
OMIM 616768 OMIM
PANTHER OS01G0282866 PROTEIN UniProtKB/TrEMBL
  PTHR11588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN BETA 8B-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN BETA CHAIN UniProtKB/TrEMBL
  TUBULIN DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166048953 PharmGKB
PRINTS BETATUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN_B_AUTOREG 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 A0A075B724_HUMAN UniProtKB/TrEMBL
  A0A075B725_HUMAN UniProtKB/TrEMBL
  A0A075B735_HUMAN UniProtKB/TrEMBL
  A0A075B736 ENTREZGENE, UniProtKB/TrEMBL
  B4DQN9 ENTREZGENE
  Q3ZCM7 ENTREZGENE
  Q5SQX9 ENTREZGENE
  Q5SQY0_HUMAN UniProtKB/TrEMBL
  Q8WZ78 ENTREZGENE
  Q9BUU9 ENTREZGENE, UniProtKB/TrEMBL
  TBB8_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5SQX9 UniProtKB/Swiss-Prot
  Q8WZ78 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 TUBB8  tubulin beta 8 class VIII    tubulin, beta 8 class VIII  Symbol and/or name change 5135510 APPROVED
2011-10-18 TUBB8  tubulin, beta 8 class VIII  TUBB8  tubulin, beta 8  Symbol and/or name change 5135510 APPROVED