ENSG00000104833
Homo sapiens | |
Features
| Gene ID: | ENSG00000104833 | | | | | Biological name : | TUBB4A | | | | | Synonyms : | P04350 / TUBB4A / tubulin beta 4A class IVa | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | -1 | | Band: | p13.3 | | Gene start: | 6494319 | | Gene end: | 6502848 | | | | | Corresponding Affymetrix probe sets: | 212664_at (Human Genome U133 Plus 2.0 Array) 213476_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000472375
Ensembl peptide - ENSP00000472481
Ensembl peptide - ENSP00000472795
Ensembl peptide - ENSP00000264071
Ensembl peptide - ENSP00000468843
Ensembl peptide - ENSP00000469560
Ensembl peptide - ENSP00000469660
Ensembl peptide - ENSP00000469936
Ensembl peptide - ENSP00000470627
Ensembl peptide - ENSP00000470983
Ensembl peptide - ENSP00000471320
Ensembl peptide - ENSP00000471503
Ensembl peptide - ENSP00000471880
NCBI entrez gene - 10382
See in Manteia.
OMIM - 602662
RefSeq - NM_001289127
RefSeq - NM_001289129
RefSeq - NM_001289130
RefSeq - NM_001289131
RefSeq - NM_006087
RefSeq - NM_001289123
RefSeq Peptide - NP_001276056
RefSeq Peptide - NP_001276058
RefSeq Peptide - NP_001276059
RefSeq Peptide - NP_001276060
RefSeq Peptide - NP_006078
RefSeq Peptide - NP_001276052
swissprot - P04350
swissprot - M0QX14
swissprot - M0QY37
swissprot - M0QY85
swissprot - M0QYM7
swissprot - M0QZL7
swissprot - M0R042
swissprot - M0R0M1
swissprot - M0R0X0
swissprot - M0R1I1
swissprot - M0R278
swissprot - M0R2D3
swissprot - M0R2T4
Ensembl - ENSG00000104833
| | | | | Related genetic diseases (OMIM): | 128101 - Dystonia 4, torsion, autosomal dominant, 128101 | | | 612438 - Leukodystrophy, hypomyelinating, 6, 612438 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000182 | Movement abnormalities of the tongue | |
Show
| | HP:0000194 | Open mouth | |
Show
| | HP:0000473 | Torticollis | |
Show
| | HP:0000643 | Blepharospasm | "An involuntary recurrent spasm of both eyelids." [HPO:curators] |
Show
| | HP:0000726 | Dementia | |
Show
| | HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
Show
| | HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
| | HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
Show
| | HP:0002098 | Respiratory distress | |
Show
| | HP:0002751 | Kyphoscoliosis | |
Show
| | HP:0003782 | Eunuchoid habitus | |
Show
| | HP:0007325 | Generalized dystonia | |
Show
| | HP:0007351 | Upper limb postural tremor | |
Show
| | HP:0009938 | Sunken cheeks | |
Show
| | HP:0012049 | Laryngeal dystonia | "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson] |
Show
|
Interacting proteins (from Reactome)
No match
0 s.
|
