TUBA4B (tubulin alpha 4b) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: TUBA4B (tubulin alpha 4b) Homo sapiens
Analyze
Symbol: TUBA4B
Name: tubulin alpha 4b
RGD ID: 1345961
HGNC Page HGNC:18637
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: FLJ13940; putative tubulin-like protein alpha-4B; TUBA4; tubulin, alpha 4; tubulin, alpha 4b (pseudogene)
RGD Orthologs
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,253,243 - 219,272,197 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,253,243 - 219,272,197 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,117,965 - 220,136,919 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,826,209 - 219,845,154 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,943,469 - 219,962,415NCBI
Celera2213,887,672 - 213,906,619 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,970,880 - 211,990,005 (+)NCBIHuRef
CHM1_12220,123,809 - 220,142,765 (+)NCBICHM1_1
T2T-CHM13v2.02219,738,010 - 219,756,962 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
ptosis  (IAGP)

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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ptosis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3785200   PMID:12477932   PMID:14702039   PMID:19380743   PMID:21145461   PMID:21873635   PMID:22360420   PMID:22863883   PMID:25963833   PMID:27025967   PMID:27411923   PMID:28117675  
PMID:28225217   PMID:29845934   PMID:30157490   PMID:30258100   PMID:30619736   PMID:30940648   PMID:31091453   PMID:31405213   PMID:31501420   PMID:31586073   PMID:32271419   PMID:33644029  
PMID:33961781   PMID:34644545   PMID:35256949   PMID:36574265  


Genomics

Comparative Map Data
TUBA4B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,253,243 - 219,272,197 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,253,243 - 219,272,197 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,117,965 - 220,136,919 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,826,209 - 219,845,154 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,943,469 - 219,962,415NCBI
Celera2213,887,672 - 213,906,619 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,970,880 - 211,990,005 (+)NCBIHuRef
CHM1_12220,123,809 - 220,142,765 (+)NCBICHM1_1
T2T-CHM13v2.02219,738,010 - 219,756,962 (+)NCBIT2T-CHM13v2.0
LOC100158003
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.115121,305,563 - 121,311,919 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,341,048 - 134,347,416 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in TUBA4B
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
NM_001355221.1(TUBA4B):c.12+641T>G single nucleotide variant not provided [RCV001669353] Chr2:219254060 [GRCh38]
Chr2:220118782 [GRCh37]
Chr2:2q35		 benign
NM_001355221.1(TUBA4B):c.12+541del deletion not provided [RCV001643677] Chr2:219253951 [GRCh38]
Chr2:220118673 [GRCh37]
Chr2:2q35		 benign
NM_001355221.1(TUBA4B):c.12+339A>G single nucleotide variant not provided [RCV001591978] Chr2:219253758 [GRCh38]
Chr2:220118480 [GRCh37]
Chr2:2q35		 likely benign
NM_001355221.1(TUBA4B):c.12+390G>C single nucleotide variant not provided [RCV001635549] Chr2:219253809 [GRCh38]
Chr2:220118531 [GRCh37]
Chr2:2q35		 benign
NM_001355221.1(TUBA4B):c.12+541dup duplication not provided [RCV001619509] Chr2:219253950..219253951 [GRCh38]
Chr2:220118672..220118673 [GRCh37]
Chr2:2q35		 benign
NM_001355221.1(TUBA4B):c.12+357del deletion not provided [RCV001545474] Chr2:219253773 [GRCh38]
Chr2:220118495 [GRCh37]
Chr2:2q35		 likely benign
NM_001355221.1(TUBA4B):c.12+834G>T single nucleotide variant not provided [RCV001668866] Chr2:219254253 [GRCh38]
Chr2:220118975 [GRCh37]
Chr2:2q35		 benign
NM_001355221.1(TUBA4B):c.12+614G>T single nucleotide variant not provided [RCV001538602] Chr2:219254033 [GRCh38]
Chr2:220118755 [GRCh37]
Chr2:2q35		 likely benign
NM_001355221.1(TUBA4B):c.12+147G>C single nucleotide variant Ptosis [RCV003983798] Chr2:219253566 [GRCh38]
Chr2:220118288 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:889
Count of miRNA genes:376
Interacting mature miRNAs:412
Transcripts:ENST00000473885, ENST00000485041, ENST00000486997, ENST00000490341
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
GDB:181260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,118,969 - 220,119,519UniSTSGRCh37
Build 362219,827,213 - 219,827,763RGDNCBI36
Celera2213,888,676 - 213,889,226RGD
Cytogenetic Map2q35UniSTS
HuRef2211,971,884 - 211,972,434UniSTS
TUBA4__5160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,135,985 - 220,136,902UniSTSGRCh37
Build 362219,844,229 - 219,845,146RGDNCBI36
Celera2213,905,694 - 213,906,611RGD
HuRef2211,989,080 - 211,989,997UniSTS
RH78682  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q35UniSTS


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
Medium 1 1 1 3 1 1 73 7 38 146 1
Low 39 144 447 97 516 97 296 74 614 236 259 463 2 195
Below cutoff 1967 2461 1042 446 1269 310 3228 1869 2518 122 945 786 145 733 2172 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000473885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,253,243 - 219,272,011 (+)Ensembl
RefSeq Acc Id: ENST00000485041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,253,243 - 219,272,011 (+)Ensembl
RefSeq Acc Id: ENST00000490341   ⟹   ENSP00000487719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,253,243 - 219,272,197 (+)Ensembl
RefSeq Acc Id: ENST00000713556   ⟹   ENSP00000518849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,266,432 - 219,272,197 (+)Ensembl
RefSeq Acc Id: NM_001355221   ⟹   NP_001342150
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,253,243 - 219,272,197 (+)NCBI
T2T-CHM13v2.02219,738,010 - 219,756,962 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001342150 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAB14767 (Get FASTA)   NCBI Sequence Viewer  
  EAW70720 (Get FASTA)   NCBI Sequence Viewer  
  EAW70721 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000487719
  ENSP00000487719.1
GenBank Protein Q9H853 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001342150   ⟸   NM_001355221
- UniProtKB: Q9H853 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000487719   ⟸   ENST00000490341
RefSeq Acc Id: ENSP00000518849   ⟸   ENST00000713556

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H853-F1-model_v2 AlphaFold Q9H853 1-241 view protein structure

Promoters
RGD ID:6798037
Promoter ID:HG_KWN:37342
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NR_003063,   OTTHUMT00000335638,   OTTHUMT00000335639
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,825,246 - 219,826,217 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18637 AgrOrtholog
COSMIC TUBA4B COSMIC
Ensembl Genes ENSG00000243910 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000490341 ENTREZGENE
  ENST00000490341.3 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1440 UniProtKB/Swiss-Prot
GTEx ENSG00000243910 GTEx
HGNC ID HGNC:18637 ENTREZGENE
Human Proteome Map TUBA4B Human Proteome Map
InterPro Alpha_tubulin UniProtKB/Swiss-Prot
  Tubulin UniProtKB/Swiss-Prot
  Tubulin/FtsZ_GTPase_sf UniProtKB/Swiss-Prot
  Tubulin_FtsZ_GTPase UniProtKB/Swiss-Prot
NCBI Gene 80086 ENTREZGENE
PANTHER PTHR11588 UniProtKB/Swiss-Prot
  TUBULIN-LIKE PROTEIN ALPHA-4B-RELATED UniProtKB/Swiss-Prot
Pfam Tubulin UniProtKB/Swiss-Prot
PharmGKB PA38613 PharmGKB
PRINTS ALPHATUBULIN UniProtKB/Swiss-Prot
  TUBULIN UniProtKB/Swiss-Prot
SMART Tubulin UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52490 UniProtKB/Swiss-Prot
UniProt Q9H853 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 TUBA4B  tubulin alpha 4b    tubulin, alpha 4b  Symbol and/or name change 5135510 APPROVED
2015-03-25 TUBA4B  tubulin, alpha 4b    tubulin, alpha 4b (pseudogene)  Symbol and/or name change 5135510 APPROVED