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TUBB4B - tubulin beta 4B class IVb Gene

Also Known as Beta2; TUBB2; LCAEOD; TUBB2C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10383

About TUBB4B

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,241,287-137,243,707 (from NCBI)

This gene has 2 transcripts (splice variants), 264 orthologues, 23 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 398.3), bone marrow (RPKM 175.3) and 25 other tissues.

Summary

Enables double-stranded RNA binding activity. Predicted to be involved in microtubule Cytoskeleton organization and mitotic cell cycle. Located in microtubule. Implicated in Leber congenital amaurosis with early-onset deafness. [provided by Alliance of Genome Resources, Apr 2022]

TUBB4B Products (1)

mRNA	Protein	Name
NM_006088.6	NP_006079.1	tubulin beta-4B chain

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	21266579	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24275654	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axonemal microtubule	IDA IDA: Inferred from direct assay	36191189	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TUBB4B Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
445 a.a.

Protein Preferred Names	Protein Names
tubulin beta-4B chain	class IVb beta tubulin

TUBB4B Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83265	beta II Tubulin Antibody (YA3010)	WB, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat
HY-P87150	beta II Tubulin Antibody (YA6843)	WB, IHC-P, IHC-F, IF-Tissue, FC, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis With Early-Onset Deafness	LCAEOD
Tubulin, Beta
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles, Congenital, 3b CFEOM1 Blepharoptosis With Absent Eye Movements Congenital Fibrosis Of The Extraocular Muscles 1 Congenital Fibrosis Of Extraocular Muscles Type 1 Fibrosis Ophthalmoplegia, Congenital Feom1 Locus Congenital Ophthalmoplegia Feom1 CFEOM3B Fibrosis, Extraocular Muscles, Congenital, Type 1 Congenital Fibrosis Of The Extraocular Muscles
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15256	TUBB4B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21214	Tubb4b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27730	Tubb4b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TUBB4B	RGD	RGD:735101
Canis familiaris	TUBB4B	VGNC	VGNC:47990
Bos taurus	TUBB4B	VGNC	VGNC:36508
Felis catus	TUBB4B	VGNC	VGNC:66701
Mus musculus	TUBB4B	MGD	MGI:1915472
Others	TUBB4B	NCBI