1. Gene
  2. TFB2M - transcription factor B2, mitochondrial Gene

TFB2M - transcription factor B2, mitochondrial Gene

Homo sapiens

Also known as Hkp1; mtTFB2

Gene ID: 64216 | Gene type: protein coding

About TFB2M

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:246,540,561-246,566,261 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and 2 paralogues. Ubiquitous expression in adrenal (RPKM 13.7), kidney (RPKM 9.8) and 25 other tissues.

Summary

Enables mitochondrial transcription factor activity. Involved in transcription initiation from mitochondrial promoter. Located in mitochondrial nucleoid. [provided by Alliance of Genome Resources, Apr 2022]

TFB2M Products(1)

mRNA Protein Name
NM_022366.3 NP_071761.1 dimethyladenosine transferase 2, mitochondrial

TFB2M Protein Structure

RrnaAD

RrnaAD: Ribosomal RNA adenine dimethylase (95 - 378)

  • 0
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  • 200
  • 300
  • 396 a.a.
Protein Preferred Names Protein Names

dimethyladenosine transferase 2, mitochondrial

HCV NS5A-transactivated protein 5

Related Diseases

Diseases Alias
Mitochondrial Dna Depletion Syndrome 11

MTDPS11

Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome

Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency

Peo-Myopathy-Emaciation Syndrome

Mtdna Maintenance Syndrome Due To Mgme1 Deficiency

Mitochondrial Dna Depletion Syndrome, Type 11

Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI

Neuropathy, Hereditary Sensory, Type Ie

HSN1E

Hsn Ie

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsan 1

Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

Hereditary Sensory Neuropathy Type 1

Hsn1

Hereditary Sensory And Autonomic Neuropathy Type 1

Neuropathy Hereditary Sensory And Autonomic Type 1

Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

Neuropathy, Hereditary Sensory, 1e

Neuropathy Hereditary Sensory With Hearing Loss And Dementia

Neuropathy, Hereditary Sensory, Type I

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Mitochondrial Dna Depletion Syndrome 1

MTDPS1

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

Myoneurogastrointestinal Encephalopathy Syndrome

Polip Syndrome

Mitochondrial Dna Depletion Syndrome, Type 1

Mngie, Tymp-Related

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

Mitochondrial Dna Depletion Syndrome 1, Mngie Type

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

Myoneurogastrointestinal Encephalomyopathy

Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

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

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Thymidine Phosphorylase Deficiency

MTDPS4B

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mngie

Myoneurogastrointestinal Encephalopathy Syndrome

Ogimd

Oculogastrointestinal Muscular Dystrophy

Polip

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mngie, Polg-Related

Mepop

Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

Mngie Disease

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Mngie Polg-Related

Mitochondrial Dna Depletion Syndrome, Type 4b

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

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

Orthologs Information

Species Symbol Source ID
Felis catus TFB2M VGNC VGNC:66112
Bos taurus TFB2M VGNC VGNC:35783
Macaca mulatta TFB2M VGNC VGNC:106519
Rattus norvegicus TFB2M RGD RGD:1307091
Canis familiaris TFB2M VGNC VGNC:47289
Mus musculus TFB2M MGD MGI:107937