2. Gene
  3. TUBB4B - tubulin beta 4B class IVb Gene

TUBB4B - tubulin beta 4B class IVb Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as Beta2; TUBB2; LCAEOD; TUBB2C

Gene ID: 10383 | Gene type: protein coding

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 Reference 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 Reference 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: Tubulin/FtsZ family, GTPase domain (3 - 222)

Tubulin_C

Tubulin_C: Tubulin C-terminal domain (261 - 382)

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  • 445 a.a.
Protein Preferred Names Protein Names

tubulin beta-4B chain

class IVb beta tubulin

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15256 TUBB4B Human Pre-designed siRNA Set A Pre-designed Sets / 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