2. Gene
  3. TUBB6 - tubulin beta 6 class V Gene

TUBB6 - tubulin beta 6 class V Gene

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

Also known as FPVEPD; TUBB-5; HsT1601

Gene ID: 84617 | Gene type: protein coding

About TUBB6

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,307,669-12,329,826 (from NCBI)

This gene has 14 transcripts (splice variants), 140 orthologues, 23 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 41.4), esophagus (RPKM 38.3) and 25 other tissues.

Summary

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. Located in microtubule. [provided by Alliance of Genome Resources, Apr 2022]

TUBB6 Products(8)

mRNA Protein Name
NM_001303524.1 NP_001290453.1 tubulin beta-6 chain isoform 1
NM_001303525.2 NP_001290454.1 tubulin beta-6 chain isoform 2
NM_001303526.2 NP_001290455.1 tubulin beta-6 chain isoform 3
NM_001303527.2 NP_001290456.1 tubulin beta-6 chain isoform 4
NM_001303528.2 NP_001290457.1 tubulin beta-6 chain isoform 5
NM_001303529.3 NP_001290458.1 tubulin beta-6 chain isoform 6
NM_001303530.3 NP_001290459.1 tubulin beta-6 chain isoform 6
NM_032525.3 NP_115914.1 tubulin beta-6 chain isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
24275654 GOA
Cellular Component GO Annotation Evidence Reference Source
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

TUBB6 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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  • 400
  • 446 a.a.
Protein Preferred Names Protein Names

tubulin beta-6 chain

class V beta-tubulin

Related Diseases

Diseases Alias
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction

FPVEPD
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy
Tubulin, Beta
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris
Tubulinopathy

Tubulinopathies
Multiple Benign Circumferential Skin Creases On Limbs

Ccsf

Circumferential Skin Creases, Kunze Type

Congenital Circumferential Skin Folds

Kunze-Riehm Syndrome

Kunze Riehm Syndrome

Michelin Tire Baby Syndrome
Microlissencephaly
Nail Disorder, Nonsyndromic Congenital, 4

Anonychia Congenita

Anonychia

Hyponychia Congenita

NDNC4

Anonychia/Hyponychia Congenita

Nonsyndromic Congenital Nail Disorder 4

Isolated Congenital Anonychia

Anonychia Congenita Totalis

Anonychia Totalis

Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4

Congenital Anonychia

Nonsyndromic Congenital Nail Disorder, 4

Absent Nails

Aplastic Nails

Congenital Absence Of Nails

Isolated Anonychia

Nail Disorder, Non-Syndromic Congenital, 4

Nail Disorder, Nonsyndromic, Congenital, Type 4
Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome
Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital
Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis
Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS15257 TUBB6 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta TUBB6 VGNC VGNC:104253
Felis catus TUBB6 VGNC VGNC:80542
Canis familiaris TUBB6 VGNC VGNC:47991
Rattus norvegicus TUBB6 RGD RGD:1305887
Bos taurus TUBB6 VGNC VGNC:36509
Mus musculus TUBB6 MGD MGI:1915201