TUBB4B (tubulin beta 4B class IVb) - Rat Genome Database

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Gene: TUBB4B (tubulin beta 4B class IVb) Homo sapiens
Analyze
Symbol: TUBB4B
Name: tubulin beta 4B class IVb
RGD ID: 1601774
HGNC Page HGNC:20771
Description: Enables double-stranded RNA binding activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in axonemal microtubule; intercellular bridge; and mitotic spindle. Implicated in Leber congenital amaurosis with early-onset deafness.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Beta2; class IVb beta tubulin; class IVb beta-tubulin; LCAEOD; TUBB2; TUBB2C; tubulin beta-2 chain; tubulin beta-2C chain; tubulin beta-4B chain; tubulin, beta 2C; tubulin, beta 4B class IVb; tubulin, beta, 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TUBB4BP1   TUBB4BP3   TUBB4BP4   TUBB4BP5   TUBB4BP7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,241,287 - 137,243,707 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,241,287 - 137,243,707 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,135,739 - 140,138,159 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,255,532 - 139,257,980 (+)NCBINCBI36Build 36hg18NCBI36
Celera9110,651,151 - 110,653,744 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,595,024 - 109,597,472 (+)NCBIHuRef
CHM1_19140,284,445 - 140,286,893 (+)NCBICHM1_1
T2T-CHM13v2.09149,478,956 - 149,481,376 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-colchicine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-acetamidofluorene  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
azathioprine  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
bromobenzene  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
chloropicrin  (EXP)
cisplatin  (EXP)
clozapine  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
diallyl trisulfide  (EXP)
diazinon  (ISO)
dibenzo[a,l]pyrene  (EXP)
diclofenac  (EXP)
dioxygen  (EXP)
dopamine  (ISO)
doxorubicin  (EXP)
enniatin  (EXP)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenoldopam  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
furan  (ISO)
gentamycin  (ISO)
haloperidol  (EXP)
indometacin  (ISO)
isoflavones  (ISO)
ivermectin  (EXP)
lead(II) chloride  (EXP)
leflunomide  (EXP)
levofloxacin  (ISO)
Licochalcone B  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
microcystin-LR  (ISO)
N-(6-acetamidohexyl)acetamide  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
resorcinol  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vincaleukoblastine  (ISO)
vincristine  (EXP,ISO)
vitamin E  (EXP)
zearalenone  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2461292   PMID:3782288   PMID:3999141   PMID:7790358   PMID:9921901   PMID:10908577   PMID:11076968   PMID:11118478   PMID:11120798   PMID:11487543   PMID:12037579   PMID:12052866  
PMID:12221128   PMID:12477932   PMID:12486001   PMID:12852856   PMID:12927047   PMID:14594945   PMID:14702039   PMID:14760703   PMID:15331610   PMID:15489334   PMID:15548702   PMID:15634916  
PMID:15635413   PMID:15691386   PMID:15698476   PMID:15952740   PMID:16105984   PMID:16130169   PMID:16169070   PMID:16226712   PMID:16462731   PMID:16526095   PMID:16712791   PMID:17081983  
PMID:17207965   PMID:17360745   PMID:17620599   PMID:17627938   PMID:17643375   PMID:17955473   PMID:18029348   PMID:18384219   PMID:18458804   PMID:18613978   PMID:19167051   PMID:19380743  
PMID:19394292   PMID:19738201   PMID:19996274   PMID:20131911   PMID:20458337   PMID:20462248   PMID:20467437   PMID:20473970   PMID:20682791   PMID:20872967   PMID:21044950   PMID:21080425  
PMID:21081503   PMID:21081666   PMID:21145461   PMID:21266579   PMID:21319273   PMID:21360678   PMID:21525035   PMID:21532586   PMID:21565611   PMID:21630459   PMID:21873635   PMID:21942715  
PMID:21988832   PMID:22145905   PMID:22174317   PMID:22264600   PMID:22337587   PMID:22360420   PMID:22623428   PMID:22810585   PMID:22863883   PMID:22939629   PMID:22963397   PMID:23042605  
PMID:23184937   PMID:23246001   PMID:23376485   PMID:23398456   PMID:23443559   PMID:23455922   PMID:23463506   PMID:23533145   PMID:23686814   PMID:23703321   PMID:23826228   PMID:23956138  
PMID:23979707   PMID:24244333   PMID:24275654   PMID:24332808   PMID:24337577   PMID:24457600   PMID:24625528   PMID:24657165   PMID:24711643   PMID:24769233   PMID:25147182   PMID:25324306  
PMID:25437307   PMID:25458010   PMID:25468996   PMID:25798074   PMID:25864199   PMID:25921289   PMID:25940091   PMID:25959826   PMID:25963833   PMID:25996949   PMID:26186194   PMID:26344197  
PMID:26460568   PMID:26485645   PMID:26496610   PMID:26549023   PMID:26561776   PMID:26638075   PMID:26643866   PMID:26673895   PMID:26687479   PMID:26725010   PMID:26735018   PMID:26748699  
PMID:26831064   PMID:26972000   PMID:27025967   PMID:27129302   PMID:27248496   PMID:27342126   PMID:27371349   PMID:27503909   PMID:27545878   PMID:27591049   PMID:27684187   PMID:27976729  
PMID:28186131   PMID:28302793   PMID:28325877   PMID:28330616   PMID:28378594   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28648944   PMID:28685749   PMID:28927264  
PMID:28977666   PMID:29117863   PMID:29198720   PMID:29229926   PMID:29331416   PMID:29435596   PMID:29467282   PMID:29507755   PMID:29513927   PMID:29676528   PMID:29777862   PMID:29845934  
PMID:29859926   PMID:29955894   PMID:30009671   PMID:30026490   PMID:30209976   PMID:30258100   PMID:30349055   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30554943  
PMID:30559450   PMID:30575818   PMID:30619736   PMID:30745168   PMID:30804502   PMID:30809309   PMID:30865227   PMID:30940648   PMID:30997501   PMID:31010829   PMID:31046837   PMID:31180492  
PMID:31239290   PMID:31253590   PMID:31300519   PMID:31353912   PMID:31375012   PMID:31501420   PMID:31527668   PMID:31620119   PMID:31669268   PMID:31980649   PMID:32129710   PMID:32140098  
PMID:32322062   PMID:32529326   PMID:32552912   PMID:32687490   PMID:32698014   PMID:32786267   PMID:32807901   PMID:32850835   PMID:32905556   PMID:32929329   PMID:32994395   PMID:33022573  
PMID:33080218   PMID:33111431   PMID:33194618   PMID:33397691   PMID:33536335   PMID:33545068   PMID:33567341   PMID:33644029   PMID:33711283   PMID:33729478   PMID:33762435   PMID:33916271  
PMID:33961781   PMID:34079125   PMID:34185411   PMID:34316702   PMID:34462429   PMID:34551306   PMID:34581821   PMID:34634033   PMID:34642328   PMID:34644545   PMID:34650049   PMID:34662580  
PMID:34687317   PMID:34728620   PMID:34857952   PMID:34921745   PMID:35007762   PMID:35013218   PMID:35124280   PMID:35173535   PMID:35182466   PMID:35240325   PMID:35256949   PMID:35271311  
PMID:35338135   PMID:35446349   PMID:35509820   PMID:35545034   PMID:35562734   PMID:35583604   PMID:35676246   PMID:35676659   PMID:35819319   PMID:35831314   PMID:35831895   PMID:35844135  
PMID:35914814   PMID:35944360   PMID:36030824   PMID:36042349   PMID:36057605   PMID:36114006   PMID:36123327   PMID:36180891   PMID:36191189   PMID:36199071   PMID:36215168   PMID:36273042  
PMID:36282215   PMID:36307841   PMID:36373674   PMID:36376293   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36762613   PMID:36779763   PMID:36793866   PMID:36896912  
PMID:36912080   PMID:36929488   PMID:37120454   PMID:37616343   PMID:37689310   PMID:38113892   PMID:38245532  


Genomics

Comparative Map Data
TUBB4B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,241,287 - 137,243,707 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,241,287 - 137,243,707 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,135,739 - 140,138,159 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,255,532 - 139,257,980 (+)NCBINCBI36Build 36hg18NCBI36
Celera9110,651,151 - 110,653,744 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,595,024 - 109,597,472 (+)NCBIHuRef
CHM1_19140,284,445 - 140,286,893 (+)NCBICHM1_1
T2T-CHM13v2.09149,478,956 - 149,481,376 (+)NCBIT2T-CHM13v2.0
Tubb4b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39225,112,170 - 25,114,714 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl225,112,172 - 25,114,714 (-)EnsemblGRCm39 Ensembl
GRCm38225,222,158 - 25,224,702 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl225,222,160 - 25,224,702 (-)EnsemblGRCm38mm10GRCm38
MGSCv37225,077,678 - 25,080,222 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36225,044,171 - 25,046,650 (-)NCBIMGSCv36mm8
Celera224,949,941 - 24,952,486 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map217.08NCBI
Tubb4b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8328,435,999 - 28,438,455 (-)NCBIGRCr8
mRatBN7.238,037,838 - 8,040,294 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl38,037,799 - 8,040,296 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx311,142,521 - 11,144,977 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0319,728,750 - 19,731,206 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0317,918,593 - 17,921,049 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.032,441,585 - 2,444,369 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl32,441,733 - 2,444,281 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.032,422,868 - 2,425,649 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,387,050 - 3,389,500 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.133,387,049 - 3,389,500 (-)NCBI
Celera32,864,558 - 2,867,008 (-)NCBICelera
Cytogenetic Map3p13NCBI
Tubb4b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555135,235,629 - 5,239,370 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555135,237,050 - 5,239,370 (+)NCBIChiLan1.0ChiLan1.0
TUBB4B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,155,911 - 2,159,194 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan192,158,244 - 2,160,933 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09108,300,868 - 108,303,321 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19137,269,849 - 137,271,758 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9137,268,942 - 137,271,758 (+)Ensemblpanpan1.1panPan2
TUBB4B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,432,114 - 48,434,626 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,427,766 - 48,571,640 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,618,435 - 47,620,948 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0949,293,272 - 49,295,782 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl949,289,395 - 49,295,750 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1948,069,677 - 48,072,187 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0948,368,505 - 48,371,015 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0948,415,650 - 48,418,163 (-)NCBIUU_Cfam_GSD_1.0
Tubb4b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,623,429 - 202,625,856 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936669749,202 - 751,739 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936669749,203 - 751,622 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TUBB4B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.21314,135,349 - 314,137,803 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TUBB4B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112945,643 - 948,087 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12945,459 - 948,065 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660584,357,929 - 4,360,605 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tubb4b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624760712,987 - 717,951 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624760715,013 - 717,462 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TUBB4B
65 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 copy number loss See cases [RCV000052937] Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1 copy number loss See cases [RCV000052887] Chr9:137092629..137375788 [GRCh38]
Chr9:139987081..140270240 [GRCh37]
Chr9:139106902..139390061 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1 copy number loss See cases [RCV000052951] Chr9:137215877..137830604 [GRCh38]
Chr9:140110329..140725056 [GRCh37]
Chr9:139230150..139844877 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 copy number loss See cases [RCV000052941] Chr9:137215877..138138735 [GRCh38]
Chr9:140110329..141033187 [GRCh37]
Chr9:139230150..140153008 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
Single allele deletion Epilepsy [RCV001293379] Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3 copy number gain See cases [RCV000142744] Chr9:137092629..137270028 [GRCh38]
Chr9:139987081..140164480 [GRCh37]
Chr9:139106902..139284301 [NCBI36]
Chr9:9q34.3
benign
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3
likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) single nucleotide variant Leber congenital amaurosis with early-onset deafness [RCV000584731]|not provided [RCV001683598] Chr9:137243390 [GRCh38]
Chr9:140137842 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) single nucleotide variant Leber congenital amaurosis with early-onset deafness [RCV000584738]|not provided [RCV001755979] Chr9:137243389 [GRCh38]
Chr9:140137841 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 copy number loss See cases [RCV000446191] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140094273-140167730)x3 copy number gain not provided [RCV000753240] Chr9:140094273..140167730 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140094273-140218212)x3 copy number gain not provided [RCV000753241] Chr9:140094273..140218212 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140094273-140332474)x3 copy number gain not provided [RCV000753243] Chr9:140094273..140332474 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140094273-140218283)x3 copy number gain not provided [RCV000753242] Chr9:140094273..140218283 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_138645763)_(140729425_?)del deletion Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_006088.6(TUBB4B):c.1035C>T (p.Ile345=) single nucleotide variant not provided [RCV000880456] Chr9:137243253 [GRCh38]
Chr9:140137705 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.1183C>T (p.Leu395=) single nucleotide variant not provided [RCV000924960] Chr9:137243401 [GRCh38]
Chr9:140137853 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3 copy number gain not provided [RCV000848688] Chr9:139766260..140186072 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3 copy number gain not provided [RCV000847406] Chr9:140064816..140759229 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_139089171)_(141016451_?)del deletion Rafiq syndrome [RCV003122293]|not provided [RCV003105304] Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3
pathogenic|no classifications from unflagged records
NM_006088.6(TUBB4B):c.-29C>A single nucleotide variant not provided [RCV001540147] Chr9:137241332 [GRCh38]
Chr9:140135784 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.189C>G (p.Ala63=) single nucleotide variant not provided [RCV000917605] Chr9:137241933 [GRCh38]
Chr9:140136385 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.567C>T (p.Val189=) single nucleotide variant not provided [RCV000954952] Chr9:137242785 [GRCh38]
Chr9:140137237 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.58-7C>T single nucleotide variant not provided [RCV003106654] Chr9:137241714 [GRCh38]
Chr9:140136166 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.166+13C>T single nucleotide variant not provided [RCV001612183] Chr9:137241842 [GRCh38]
Chr9:140136294 [GRCh37]
Chr9:9q34.3
benign
NC_000009.12:g.(?_137139467)_(137834973_?)del deletion Kleefstra syndrome 1 [RCV001031572] Chr9:140033919..140729425 [GRCh37]
Chr9:9q34.3
pathogenic
NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs) microsatellite Leber congenital amaurosis with early-onset deafness [RCV001198951] Chr9:137242802..137242803 [GRCh38]
Chr9:140137254..140137255 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3 copy number gain not provided [RCV001259536] Chr9:139776707..140234193 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
NM_006088.6(TUBB4B):c.278-119C>G single nucleotide variant not provided [RCV001681368] Chr9:137242377 [GRCh38]
Chr9:140136829 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.-62G>T single nucleotide variant not provided [RCV001651357] Chr9:137241299 [GRCh38]
Chr9:140135751 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.19T>G (p.Leu7Val) single nucleotide variant not specified [RCV002248920] Chr9:137241379 [GRCh38]
Chr9:140135831 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.1197G>A (p.Thr399=) single nucleotide variant not provided [RCV002025556] Chr9:137243415 [GRCh38]
Chr9:140137867 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:139563039-140310033) copy number loss not specified [RCV002052853] Chr9:139563039..140310033 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.76G>C (p.Asp26His) single nucleotide variant not provided [RCV001988562] Chr9:137241739 [GRCh38]
Chr9:140136191 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser) single nucleotide variant Leber congenital amaurosis with early-onset deafness [RCV001837733]|not provided [RCV003389263] Chr9:137243290 [GRCh38]
Chr9:140137742 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
GRCh37/hg19 9q34.3(chr9:138740078-141020389) copy number loss not specified [RCV002052850] Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389) copy number loss not specified [RCV002052854] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006088.6(TUBB4B):c.665dup (p.Tyr222Ter) duplication not provided [RCV001911768] Chr9:137242882..137242883 [GRCh38]
Chr9:140137334..140137335 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_139943109)_(140269288_?)dup duplication Intellectual disability, autosomal dominant 8 [RCV001996989] Chr9:139943109..140269288 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139282807-141020389) copy number loss not specified [RCV002052852] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_006088.6(TUBB4B):c.935C>T (p.Thr312Met) single nucleotide variant not provided [RCV001998334] Chr9:137243153 [GRCh38]
Chr9:140137605 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.1233C>G (p.Ala411=) single nucleotide variant not provided [RCV002188641] Chr9:137243451 [GRCh38]
Chr9:140137903 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.738C>A (p.Leu246=) single nucleotide variant not provided [RCV002146663] Chr9:137242956 [GRCh38]
Chr9:140137408 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.474G>A (p.Glu158=) single nucleotide variant not provided [RCV002187264] Chr9:137242692 [GRCh38]
Chr9:140137144 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.334C>T (p.Leu112=) single nucleotide variant not provided [RCV002209690] Chr9:137242552 [GRCh38]
Chr9:140137004 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.784C>T (p.Arg262Trp) single nucleotide variant not provided [RCV002225989] Chr9:137243002 [GRCh38]
Chr9:140137454 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.12C>T (p.Ile4=) single nucleotide variant not provided [RCV002145100] Chr9:137241372 [GRCh38]
Chr9:140135824 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.162C>T (p.Ala54=) single nucleotide variant not provided [RCV002133459] Chr9:137241825 [GRCh38]
Chr9:140136277 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.57+10C>T single nucleotide variant not provided [RCV002187331] Chr9:137241427 [GRCh38]
Chr9:140135879 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.1044T>C (p.Asn348=) single nucleotide variant not provided [RCV002116130] Chr9:137243262 [GRCh38]
Chr9:140137714 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.243C>T (p.Phe81=) single nucleotide variant not provided [RCV002145051] Chr9:137241987 [GRCh38]
Chr9:140136439 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.1200C>T (p.Gly400=) single nucleotide variant not provided [RCV002213960] Chr9:137243418 [GRCh38]
Chr9:140137870 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.1260C>T (p.Ser420=) single nucleotide variant not provided [RCV002150497] Chr9:137243478 [GRCh38]
Chr9:140137930 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.277+7C>T single nucleotide variant not provided [RCV002193895] Chr9:137242028 [GRCh38]
Chr9:140136480 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.1284C>T (p.Ala428=) single nucleotide variant not provided [RCV002150241] Chr9:137243502 [GRCh38]
Chr9:140137954 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.1140C>T (p.Arg380=) single nucleotide variant not provided [RCV002101331] Chr9:137243358 [GRCh38]
Chr9:140137810 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.166+10C>T single nucleotide variant not provided [RCV002153935] Chr9:137241839 [GRCh38]
Chr9:140136291 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.117C>T (p.Asp39=) single nucleotide variant not provided [RCV002179757] Chr9:137241780 [GRCh38]
Chr9:140136232 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.144C>T (p.Asn48=) single nucleotide variant not provided [RCV002164704] Chr9:137241807 [GRCh38]
Chr9:140136259 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.597C>T (p.Thr199=) single nucleotide variant not provided [RCV002135406] Chr9:137242815 [GRCh38]
Chr9:140137267 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.861C>G (p.Pro287=) single nucleotide variant not provided [RCV002156804] Chr9:137243079 [GRCh38]
Chr9:140137531 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.123C>T (p.Asp41=) single nucleotide variant not provided [RCV002183209] Chr9:137241786 [GRCh38]
Chr9:140136238 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.167-12C>T single nucleotide variant not provided [RCV002138772] Chr9:137241899 [GRCh38]
Chr9:140136351 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.1221G>A (p.Glu407=) single nucleotide variant not provided [RCV002179368] Chr9:137243439 [GRCh38]
Chr9:140137891 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.240C>T (p.Pro80=) single nucleotide variant not provided [RCV002156624] Chr9:137241984 [GRCh38]
Chr9:140136436 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.11:g.(?_140040158)_(141016451_?)del deletion Intellectual disability, autosomal dominant 8 [RCV003109674]|Kleefstra syndrome 1 [RCV003116549] Chr9:140040158..141016451 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NC_000009.11:g.(?_140036445)_(140138008_?)dup duplication Intellectual disability, autosomal dominant 8 [RCV003109676] Chr9:140036445..140138008 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del deletion Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3
uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122719] Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3
uncertain significance
NM_006088.6(TUBB4B):c.552C>T (p.Asn184=) single nucleotide variant not provided [RCV002967661] Chr9:137242770 [GRCh38]
Chr9:140137222 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.776C>T (p.Pro259Leu) single nucleotide variant not provided [RCV002474053] Chr9:137242994 [GRCh38]
Chr9:140137446 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.1197G>C (p.Thr399=) single nucleotide variant not provided [RCV002838212] Chr9:137243415 [GRCh38]
Chr9:140137867 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.849G>A (p.Ala283=) single nucleotide variant not provided [RCV002995525] Chr9:137243067 [GRCh38]
Chr9:140137519 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.327C>T (p.Gly109=) single nucleotide variant not provided [RCV002972561] Chr9:137242545 [GRCh38]
Chr9:140136997 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_006088.6(TUBB4B):c.1053G>A (p.Thr351=) single nucleotide variant not provided [RCV002616305] Chr9:137243271 [GRCh38]
Chr9:140137723 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.1159G>T (p.Ala387Ser) single nucleotide variant not provided [RCV002858595] Chr9:137243377 [GRCh38]
Chr9:140137829 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.561C>T (p.Leu187=) single nucleotide variant not provided [RCV002923095] Chr9:137242779 [GRCh38]
Chr9:140137231 [GRCh37]
Chr9:9q34.3
benign
NM_006088.6(TUBB4B):c.534A>G (p.Thr178=) single nucleotide variant not provided [RCV002591629] Chr9:137242752 [GRCh38]
Chr9:140137204 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.318C>T (p.Tyr106=) single nucleotide variant not provided [RCV002591649] Chr9:137242536 [GRCh38]
Chr9:140136988 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.57+15C>T single nucleotide variant not provided [RCV002705746] Chr9:137241432 [GRCh38]
Chr9:140135884 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV002639268] Chr9:137242890 [GRCh38]
Chr9:140137342 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.537G>C (p.Val179=) single nucleotide variant not provided [RCV002591271] Chr9:137242755 [GRCh38]
Chr9:140137207 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.58-16C>T single nucleotide variant not provided [RCV002572536] Chr9:137241705 [GRCh38]
Chr9:140136157 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.166+7C>T single nucleotide variant not provided [RCV002595720] Chr9:137241836 [GRCh38]
Chr9:140136288 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.278-4A>G single nucleotide variant not provided [RCV002593540] Chr9:137242492 [GRCh38]
Chr9:140136944 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.108C>T (p.Tyr36=) single nucleotide variant not provided [RCV002666702] Chr9:137241771 [GRCh38]
Chr9:140136223 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.621C>G (p.Leu207=) single nucleotide variant not provided [RCV002596328] Chr9:137242839 [GRCh38]
Chr9:140137291 [GRCh37]
Chr9:9q34.3
benign
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1 copy number loss See cases [RCV002640756] Chr9:134962336..137240181 [GRCh38]
Chr9:9q34.3
pathogenic
NM_006088.6(TUBB4B):c.207G>A (p.Glu69=) single nucleotide variant not provided [RCV003009227] Chr9:137241951 [GRCh38]
Chr9:140136403 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.278-16C>G single nucleotide variant not provided [RCV003029323] Chr9:137242480 [GRCh38]
Chr9:140136932 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.345G>T (p.Ser115=) single nucleotide variant not provided [RCV002649619] Chr9:137242563 [GRCh38]
Chr9:140137015 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.1251C>T (p.Asp417=) single nucleotide variant not provided [RCV002633833] Chr9:137243469 [GRCh38]
Chr9:140137921 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.682C>T (p.Leu228=) single nucleotide variant not provided [RCV002583170] Chr9:137242900 [GRCh38]
Chr9:140137352 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.402G>A (p.Gln134=) single nucleotide variant not provided [RCV002612113] Chr9:137242620 [GRCh38]
Chr9:140137072 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.349C>T (p.Leu117=) single nucleotide variant not provided [RCV003223325] Chr9:137242567 [GRCh38]
Chr9:140137019 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.526_527delinsAT (p.Ser176Ile) indel not provided [RCV003221577] Chr9:137242744..137242745 [GRCh38]
Chr9:140137196..140137197 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.785G>A (p.Arg262Gln) single nucleotide variant not provided [RCV003328999] Chr9:137243003 [GRCh38]
Chr9:140137455 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_006088.6(TUBB4B):c.111C>T (p.His37=) single nucleotide variant not provided [RCV003874253] Chr9:137241774 [GRCh38]
Chr9:140136226 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.278-3C>T single nucleotide variant not provided [RCV003569170] Chr9:137242493 [GRCh38]
Chr9:140136945 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 copy number gain not provided [RCV003484786] Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3
pathogenic
NM_006088.6(TUBB4B):c.1206C>A (p.Gly402=) single nucleotide variant not provided [RCV003457582] Chr9:137243424 [GRCh38]
Chr9:140137876 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.591C>T (p.Asp197=) single nucleotide variant not provided [RCV003879398] Chr9:137242809 [GRCh38]
Chr9:140137261 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.58-4dup duplication not provided [RCV003824631] Chr9:137241716..137241717 [GRCh38]
Chr9:140136168..140136169 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.1302C>T (p.Gly434=) single nucleotide variant not provided [RCV003574063] Chr9:137243520 [GRCh38]
Chr9:140137972 [GRCh37]
Chr9:9q34.3
likely benign
NM_006088.6(TUBB4B):c.306C>T (p.Ala102=) single nucleotide variant not provided [RCV003875738] Chr9:137242524 [GRCh38]
Chr9:140136976 [GRCh37]
Chr9:9q34.3
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR30Ahsa-miR-30a-5pMirtarbaseexternal_infoWestern blotFunctional MTI23338554

Predicted Target Of
Summary Value
Count of predictions:550
Count of miRNA genes:445
Interacting mature miRNAs:488
Transcripts:ENST00000340384, ENST00000604929
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D9S188E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,137,150 - 140,137,294UniSTSGRCh37
Build 369139,256,971 - 139,257,115RGDNCBI36
Celera9110,652,735 - 110,652,879RGD
Cytogenetic Map9q34UniSTS
HuRef9109,596,463 - 109,596,607UniSTS
RH71271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,138,099 - 140,138,233UniSTSGRCh37
Build 369139,257,920 - 139,258,054RGDNCBI36
Celera9110,653,684 - 110,653,818RGD
Cytogenetic Map9q34UniSTS
Cytogenetic Map9q34.3UniSTS
HuRef9109,597,412 - 109,597,546UniSTS
GeneMap99-GB4 RH Map9419.56UniSTS
DXS7003E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,138,024 - 140,138,120UniSTSGRCh37
GRCh37X117,262,997 - 117,263,095UniSTSGRCh37
Build 36X117,147,025 - 117,147,123RGDNCBI36
CeleraX117,717,795 - 117,717,893RGD
Celera9110,653,609 - 110,653,705UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9q34UniSTS
HuRef9109,597,337 - 109,597,433UniSTS
HuRefX106,757,411 - 106,757,509UniSTS
GeneMap99-GB4 RH MapX295.67UniSTS
MARC_5253-5254:996690193:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371234,318,547 - 34,319,277UniSTSGRCh37
GRCh379140,136,444 - 140,137,155UniSTSGRCh37
Build 369139,256,265 - 139,256,976RGDNCBI36
Celera1214,127,080 - 14,127,810UniSTS
Celera9110,652,029 - 110,652,740RGD
HuRef1234,059,216 - 34,059,946UniSTS
HuRef9109,595,757 - 109,596,468UniSTS
RH93426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q35UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map10p15.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 67 1 16 11 5 11 26 12 30 21 466 85 9 1 1
Medium 2365 2983 1707 611 1943 453 4329 2181 3678 397 982 1523 162 1203 2787 4
Low
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF064849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX255925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB139156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000340384   ⟹   ENSP00000341289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,241,287 - 137,243,707 (+)Ensembl
RefSeq Acc Id: ENST00000604929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,241,288 - 137,243,706 (+)Ensembl
RefSeq Acc Id: NM_006088   ⟹   NP_006079
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,241,287 - 137,243,707 (+)NCBI
GRCh379140,135,711 - 140,138,159 (+)ENTREZGENE
Build 369139,255,532 - 139,257,980 (+)NCBI Archive
HuRef9109,595,024 - 109,597,472 (+)ENTREZGENE
CHM1_19140,284,445 - 140,286,893 (+)NCBI
T2T-CHM13v2.09149,478,956 - 149,481,376 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006079   ⟸   NM_006088
- UniProtKB: A2BFA2 (UniProtKB/Swiss-Prot),   P05217 (UniProtKB/Swiss-Prot),   P68371 (UniProtKB/Swiss-Prot),   Q8IZ29 (UniProtKB/TrEMBL),   Q8N6N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000341289   ⟸   ENST00000340384
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P68371-F1-model_v2 AlphaFold P68371 1-445 view protein structure

Promoters
RGD ID:7216791
Promoter ID:EPDNEW_H14141
Type:initiation region
Name:TUBB4B_1
Description:tubulin beta 4B class IVb
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
GRCh389137,241,287 - 137,241,347EPDNEW
RGD ID:6808348
Promoter ID:HG_KWN:65732
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000254715,   UC004CMG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,254,801 - 139,255,607 (+)MPROMDB
RGD ID:6849454
Promoter ID:EP14031
Type:single initiation site
Name:HS_TUBB2
Description:beta-tubulin beta 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:various cell types
Experiment Methods:Nuclease protection; Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,255,564 - 139,255,624EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20771 AgrOrtholog
COSMIC TUBB4B COSMIC
Ensembl Genes ENSG00000188229 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000340384 ENTREZGENE
  ENST00000340384.5 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
  Helix hairpin bin UniProtKB/TrEMBL
  Tubulin/FtsZ, C-terminal domain UniProtKB/TrEMBL
  Tubulin/FtsZ, GTPase domain UniProtKB/TrEMBL
GTEx ENSG00000188229 GTEx
HGNC ID HGNC:20771 ENTREZGENE
Human Proteome Map TUBB4B 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-like_C UniProtKB/TrEMBL
  Tubulin/FtsZ_2-layer-sand-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_C_sf UniProtKB/Swiss-Prot
  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:10383 UniProtKB/Swiss-Prot
NCBI Gene 10383 ENTREZGENE
OMIM 602660 OMIM
PANTHER PTHR11588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN BETA-4B CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670672 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
  SSF55307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin nucleotide-binding domain-like UniProtKB/TrEMBL
UniProt A2BFA2 ENTREZGENE
  P05217 ENTREZGENE
  P68371 ENTREZGENE
  Q8IZ29 ENTREZGENE, UniProtKB/TrEMBL
  Q8N6N5 ENTREZGENE, UniProtKB/TrEMBL
  TBB4B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2BFA2 UniProtKB/Swiss-Prot
  P05217 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 TUBB4B  tubulin beta 4B class IVb    tubulin, beta 4B class IVb  Symbol and/or name change 5135510 APPROVED
2011-10-18 TUBB4B  tubulin, beta 4B class IVb  TUBB2C  tubulin, beta 2C  Symbol and/or name change 5135510 APPROVED