TBP - TATA-box binding protein Gene

Also Known as HDL4; TBP1; GTF2D; SCA17; TFIID; GTF2D1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6908

About TBP

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:170,554,369-170,572,859 (from NCBI)

This gene has 7 transcripts (splice variants), 217 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 21.7), lymph node (RPKM 7.6) and 24 other tissues.

Summary

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]

TBP Products (2)

mRNA Protein Name
NM_001172085.2 NP_001165556.1 TATA-box-binding protein isoform 2
NM_003194.5 NP_003185.1 TATA-box-binding protein isoform 1
Molecular Function GO Annotation Evidence Verweise Source
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
9722567 GOA
enables RNA polymerase I core promoter sequence-specific DNA binding IDA
IDA: Inferred from direct assay
11250903 GOA
enables RNA polymerase II core promoter sequence-specific DNA binding IDA
IDA: Inferred from direct assay
29111974 GOA
enables RNA polymerase II general transcription initiation factor activity IDA
IDA: Inferred from direct assay
9841876 GOA
enables RNA polymerase II general transcription initiation factor binding IPI
IPI: Inferred from physical interaction
7724559 GOA
enables RNA polymerase III general transcription initiation factor activity IMP
IMP: Inferred from mutant phenotype
26638071 GOA
enables TFIIB-class transcription factor binding IPI
IPI: Inferred from physical interaction
9841876 GOA
enables aryl hydrocarbon receptor binding IPI
IPI: Inferred from physical interaction
15641800 GOA
enables core promoter sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9841876 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
25336585 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
1465435 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
7933101 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in RNA polymerase II preinitiation complex assembly IDA
IDA: Inferred from direct assay
9841876 GOA
involved in RNA polymerase II preinitiation complex assembly IPI
IPI: Inferred from physical interaction
27007846 GOA
involved in mRNA transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
17884155 GOA
involved in positive regulation of transcription initiation by RNA polymerase II IDA
IDA: Inferred from direct assay
17884155 GOA
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
7724559 GOA
involved in transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
27193682 GOA
acts upstream of or within transcription by RNA polymerase III IDA
IDA: Inferred from direct assay
9027316 GOA
involved in transcription by RNA polymerase III IMP
IMP: Inferred from mutant phenotype
26638071 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of RNA polymerase transcription factor SL1 complex IDA
IDA: Inferred from direct assay
11250903 GOA
located in chromatin IDA
IDA: Inferred from direct assay
24289924 GOA
located in euchromatin IDA
IDA: Inferred from direct assay
19861239 GOA
located in nucleus EXP
EXP: Inferred from Experiment
23332750 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9841876 GOA
part of protein-containing complex IMP
IMP: Inferred from mutant phenotype
15641800 GOA
part of transcription factor TFIIA complex IDA
IDA: Inferred from direct assay
7724559 GOA
part of transcription factor TFIID complex IDA
IDA: Inferred from direct assay
7729427 GOA
part of transcription factor TFIID complex IPI
IPI: Inferred from physical interaction
23332750 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

TBP Protein Structure

TBP

TBP: Transcription factor TFIID (or TATA-binding protein, TBP) (163 - 245)

TBP

TBP: Transcription factor TFIID (or TATA-binding protein, TBP) (251 - 335)

  • 0
  • 100
  • 200
  • 300
  • 339 a.a.
Protein Preferred Names Protein Names

TATA-box-binding protein

  • TATA sequence-binding protein

TBP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TBP P20226 TAF12 Homo sapiens Q16514 17158164
Intra
TBP P20226 TAF12 Homo sapiens Q16514 9603525
Intra
TBP P20226 TAF12 Homo sapiens Q16514 35271311
Intra
TBP P20226 TAF12 Homo sapiens Q16514 17268553
Intra
TBP P20226 SET Homo sapiens Q01105 17318177
Intra
TBP P20226 SET Homo sapiens Q01105 17318177
Intra
TBP P20226 SET Homo sapiens Q01105 17318177
Intra
TBP P20226 POU3F2 Homo sapiens P20265 11029584
Intra
TBP P20226 POU3F2 Homo sapiens P20265
Y2H
11029584
Cross
TBP P20226 ORF6 Equid herpesvirus 1 L8B1Q7 24418534
Cross
TBP P20226 ORF6 Equid herpesvirus 1 L8B1Q7 24418534
Cross
TBP P20226 ICP0 Equid herpesvirus 1 P87662 12552007
Intra
TBP P20226 TAF1B Homo sapiens Q53T94 26496610
Intra
TBP P20226 TAF1B Homo sapiens Q53T94 35271311
Intra
TBP P20226 TAF1B Homo sapiens Q53T94 17318177
Cross
TBP P20226 Cdx1 Mus musculus P18111 17158164
Cross
TBP P20226 Cdx1 Mus musculus P18111 17158164
Intra
TBP P20226 TAF1A Homo sapiens Q15573 35271311
Intra
TBP P20226 TAF1A Homo sapiens Q15573 26496610
Intra
TBP P20226 TAF1C Homo sapiens Q15572 17318177
Intra
TBP P20226 TP53 Homo sapiens P04637 7799929
Intra
TBP P20226 GTF2A1 Homo sapiens P52655 35271311
Intra
TBP P20226 GTF2A1 Homo sapiens P52655 8006019
Intra
TBP P20226 GTF2B Homo sapiens Q00403 8006019
Intra
TBP P20226 TAF1 Homo sapiens P21675 7680771
Intra
TBP P20226 TAF1 Homo sapiens P21675 9674425
Intra
TBP P20226 TAF1 Homo sapiens P21675
Y2H
7680771
Intra
TBP P20226 TAF1 Homo sapiens P21675 7680771
Intra
TBP P20226 TAF1 Homo sapiens P21675 9603525
Intra
TBP P20226 TAF1 Homo sapiens P21675 35271311
Intra
TBP P20226 TAF1 Homo sapiens P21675 17884155
Intra
TBP P20226 EDF1 Homo sapiens O60869-1 10567391
Intra
TBP P20226 BRF1 Homo sapiens Q92994 26496610
Intra
TBP P20226 BRF1 Homo sapiens Q92994
Y2H
16713569
Intra
TBP P20226 BRF1 Homo sapiens Q92994 35271311
Cross
TBP P20226 Su(H) Drosophila melanogaster P28159 21653638
Cross: Cross-species interaction Intra: Intraspecies interaction

TBP Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P83515 TATA Box Binding Protein Antibody (YA3260) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse
HY-P83515A TATA Box Binding Protein Antibody (YA3260)(PBS only) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse
HY-P84165 TATA Box Binding Protein Antibody (YA3862) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P84165A TATA Box Binding Protein Antibody (YA3862)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P85743 TATA Box Binding Protein Antibody (YA5435) WB Human, Rat, Mouse
HY-P86585 TATA Box Binding Protein Antibody (YA6277) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 17
  • Spinocerebellar Ataxia Type 17

  • SCA17

  • Huntington Disease-Like 4

  • Hdl4

  • Olivopontocerebellar Atrophy V

  • Cerebelloparenchymal Disorder Ii

  • Opca5

  • Cpd2

  • Sca 17

  • Ataxia, Spinocerebellar, Type 17

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

Herpes Simplex
  • Herpes Simplex Infections

  • Herpesvirus Hominis Disease

  • Herpes Simplex Disease

  • Herpesviral Infection Due To Herpes Simplex

  • Infections Due To Simplex Virus

  • Herpes Nos

Dentatorubral-Pallidoluysian Atrophy
  • DRPLA

  • Naito-Oyanagi Disease

  • Haw River Syndrome

  • Myoclonic Epilepsy With Choreoathetosis

  • Nod

  • Ataxia, Chorea, Seizures, And Dementia

  • Dentatorubropallidoluysian Atrophy

  • Hrs

  • Naito Oyanagi Disease

  • Dentatorubral Pallidoluysian Atrophy

  • Dentatorubro-Pallidoluysian Atrophy

  • Myoclonic Epilepsies, Progressive

  • Atrophy, Pallidoluysian, Dentatorubral

Gastrointestinal Tuberculosis
  • Tuberculosis Of Intestines, Peritoneum And Mesenteric Glands

  • Tuberculosis, Gastrointestinal

  • Tuberculosis Of Gastrointestinal Tract

  • Tuberculosis Of Intestines, Peritoneum, And Mesenteric Glands

Pericardial Tuberculosis
  • Pericarditis, Tuberculous

  • Tuberculous Pericarditis

  • Pericarditis Tuberculous

Tuberculous Peritonitis
  • Peritonitis, Tuberculous

  • Peritonitis Tuberculous

Spinocerebellar Ataxia 12
  • Spinocerebellar Ataxia Type 12

  • SCA12

  • Ataxia, Spinocerebellar, Type 12

Prion Disease
  • Spongiform Encephalopathy

  • Transmissible Spongiform Encephalopathies

  • Prion Diseases

  • Prion Disease Pathway

  • Transmissible Spongiform Encephalopathy

  • Prion Induced Disorder

  • Prion Protein Disease

  • Inherited Human Transmissible Spongiform Encephalopathies

  • Prion Protein Diseases

  • Prion-Associated Disorders

  • Prion-Induced Disorders

  • Transmissible Dementias

  • Tses

  • Human Prion Disease

  • Tse

  • Encephalopathy, Transmissible Spongiform

  • Prion Disease, Susceptibility To

  • Spongiform Encephalopathies

  • Human Transmissible Spongiform Encephalopathies, Inherited

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Retinoblastoma
  • RB

  • Trilateral Retinoblastoma

  • RB1

  • Retinoblastoma, Trilateral

  • Neuroblastoma Of Retina

  • Rb - Retinoblastoma

  • Eye Cancer, Retinoblastoma

  • Retinal Cancer

  • Retinal Tumor

  • Glioma, Retinal

  • Non-Hereditary Retinoblastoma

  • Childhood Cancer Retinoblastoma

  • Malignant Neoplasm Of Retina

  • Retinal Neoplasms

Abdominal Tuberculosis
Machado-Joseph Disease
  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Spinocerebellar Atrophy

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • Spinocerebellar Atrophy Iii

  • Spinocerebellar Atrophy Type 3

  • Azorean Ataxia

  • Azorean Disease Of The Nervous System

  • Machado Disease

  • Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

  • Disease, Machado-Joseph

  • Ataxia, Spinocerebellar

Creutzfeldt-Jakob Disease
  • Variant Creutzfeldt-Jakob Disease

  • CJD

  • Bovine Spongiform Encephalopathy

  • Vcjd

  • Inherited Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Disease, Familial

  • Creutzfeldt Jakob Disease

  • Creutzfeldt-Jacob Disease

  • Creutzfeldt Jacob Disease

  • Sporadic Creutzfeldt-Jakob Disease

  • Encephalopathy, Bovine Spongiform

  • Creutzfeldt-Jakob Disease, Variant, Resistance To

  • Creutzfeldt-Jakob Disease, Variant

  • Creutzfeldt Jacob Syndrome

  • Jakob-Creutzfeldt Disease

  • Subacute Spongiform Encephalopathy

  • Transmissible Virus Dementia

  • New Variant Of Cjd

  • Nv-Cjd

  • Variant Cjd

  • Variant Creutzfeldt-Jacob Disease

  • Sporadic Cjd

  • Inherited Cjd

  • Acquired Creutzfeldt-Jakob Disease

  • Variant Mcj

  • Encephalopathy Bovine Spongiform

  • Familial Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Syndrome

  • New Variant Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Disease, Sporadic

  • Acquired Cjd

  • Scjd - [Sporadic Creutzfeldt-Jakob Disease]

  • Idiopathic Creutzfeldt-Jakob Disease

  • Creutzfeld-Jakob Disease Nos

  • Vcjd - [Variant Creutzfeldt-Jakob Disease]

Extrapulmonary Tuberculosis
  • EPTB

  • Tuberculosis, Extrapulmonary

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Huntington Disease-Like 1
  • HDL1

  • Huntington-Like Neurodegenerative Disorder 1

  • Hln1

  • Huntington'S Disease-Like 1

  • Early-Onset Prion Disease With Prominent Psychiatric Features

  • Huntington-Like Neurodegenerative Disorder, Autosomal Dominant

  • Prion Disease, Early-Onset, With Prominent Psychiatric Features

  • Autosomal Dominant Huntington-Like Neurodegenerative Disorder

  • Huntington Disease-Like, Type 1

Spinal And Bulbar Muscular Atrophy, X-Linked 1
  • Kennedy Disease

  • Sbma

  • Spinal And Bulbar Muscular Atrophy

  • Kennedy'S Disease

  • X-Linked Spinal And Bulbar Muscular Atrophy

  • SMAX1

  • Kd

  • Kennedy Spinal And Bulbar Muscular Atrophy

  • Spinobulbar Muscular Atrophy

  • Bulbospinal Muscular Atrophy, X-Linked

  • Bulbospinal Neuronopathy, X-Linked Recessive

  • Xbsn

  • Spinal And Bulbar Muscular Atrophy Of Kennedy

  • Bulbospinal Muscular Atrophy

  • X-Linked Bulbospinal Amyotrophy

  • Bulbo-Spinal Atrophy, X-Linked

  • Spinal Bulbar Muscular Atrophy

  • X-Linked Bulbo-Spinal Atrophy

  • X-Linked Spinal Bulbar Muscular Atrophy

  • X-Linked Bsma

  • X-Linked Bulbospinal Muscular Atrophy

  • Spinal And Bulbar Muscular Atrophy X-Linked 1

  • Bulbospinal Muscular Atrophy X-Linked

  • Bulbospinal Neuronopathy X-Linked Recessive

  • Kennedy Disease)

  • Kennedy Syndrome

  • Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

  • Atrophy, Muscular, Spinobulbar

  • Bulbospinal Neuronopathy

Friedreich Ataxia
  • Friedreich Ataxia 1

  • FRDA

  • Friedreich Ataxia With Retained Reflexes

  • Frda1

  • Fa

  • Friedreich'S Ataxia

  • Hereditary Spinal Ataxia

  • Fa1

  • Friedreich'S Tabes

  • Hereditary Spinal Sclerosis

  • Spinocerebellar Ataxia, Friedreich

  • Friedreich Spinocerebellar Ataxia

  • Friedrich'S Ataxia

Glioblastoma Classical Subtype
Pleural Tuberculosis
  • Pearly Disease

  • Tuberculosis Of Pleura

  • Tuberculous Pleurisy

  • Tuberculous Pleurisy In Primary Progressive Tuberculosis

  • Tuberculous Pleuritis

  • Pleurisy Tuberculous

  • Tuberculosis, Pleural

  • Serosal Tuberculosis Of Cattle

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Neuroacanthocytosis
  • Neuroacanthocytosis Syndrome

Cerebellar Ataxia Type 48
  • Sca48

Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Dystonia 3, Torsion, X-Linked
  • X-Linked Dystonia-Parkinsonism

  • DYT3

  • Xdp

  • Lubag

  • Dystonia-Parkinsonism, X-Linked

  • Torsion Dystonia-Parkinsonism, Filipino Type

  • Dyt-Taf1

  • X-Linked Dystonia-Parkinsonism Syndrome

  • X-Linked Torsion Dystonia-Parkinsonism Syndrome

  • Dystonia Musculorum Deformans

  • X-Linked Dystonia-Parkinsonism/Lubag

  • Lubag Syndrome

  • Dystonia-3

  • Torsion Dystonia-Parkinsonism Filipino Type

  • X-Linked Torsion Dystonia 3

  • Dystonia, Torsion, X-Linked, Type 3

Olivopontocerebellar Atrophy
  • Thomas Syndrome

  • Olivopontocerebellar Atrophies

  • Dejerine-Thomas Syndrome

  • Thomas' Syndrome

  • Wadia-Swami Syndrome

  • Opca

  • Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

  • Spinocerebellar Ataxia Type 2

Choreoacanthocytosis
  • Chorea-Acanthocytosis

  • CHAC

  • Acanthocytosis With Neurologic Disorder

  • Levine-Critchley Syndrome

  • Choreaacanthocytosis

  • Chorea Acanthocytosis

  • Neuroacanthocytosis

  • Levine-Critchley Syndrome, Formerly

  • Neuroacanthocytosis, Formerly

  • Choreo-Acanthocytosis

  • Acanthocytosis Chorea

  • Chorea Acanthocytosis Syndrome

Theileriasis
  • Theileriosis

  • Infection By Theileria

Huntington Disease-Like 2
  • HDL2

  • Huntington'S Disease-Like 2

  • Huntington Disease-Like, Type 2

Tick Infestation
  • Tick Infestations

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Spinocerebellar Ataxia 1
  • Spinocerebellar Ataxia Type 1

  • SCA1

  • Olivopontocerebellar Atrophy I

  • Opca1

  • Opca4

  • Menzel Type Opca

  • Schut-Haymaker Type Opca

  • Spinocerebellar Atrophy I

  • Opca I

  • Olivopontocerebellar Atrophy Iv

  • Opca Iv

  • Cerebelloparenchymal Disorder I

  • Cpd1

  • Olivopontocerebellar Atrophy 1

  • Cerebelloparenchymal Disorder 1

  • Olivopontocerebellar Atrophy 4

  • Spinocerebellar Atrophy 1

  • Type 1 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-1

  • Ataxia, Spinocerebellar, Type 1

Retinal Degeneration
  • Degeneration Of Retina

Spinocerebellar Ataxia 6
  • Spinocerebellar Ataxia Type 6

  • SCA6

  • Type 6 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-6

  • Ataxia, Spinocerebellar, Type 6

Human Granulocytic Anaplasmosis
  • Human Granulocytic Ehrlichiosis

  • Hge

  • Human Ehrlichial Infection, Human Granulocytic Type

  • Human Anaplasmosis Due To Anaplasma Phagocytophilum

Spinocerebellar Ataxia 40
  • Spinocerebellar Ataxia Type 40

  • SCA40

  • Ataxia, Spinocerebellar, Type 40

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Episodic Ataxia
  • Isaacs Syndrome

  • Neuromyotonia

  • Isaacs' Syndrome

  • Acquired Neuromyotonia

  • Continuous Muscle Fiber Activity Syndrome

  • Quantal Squander Syndrome

  • Isaacs-Mertens Syndrome

  • Ea Syndrome

  • Episodic Ataxia Syndrome

  • Isaac Syndrome

  • Isaac'S-Merten'S Syndrome

  • Isaac-Mertens Syndrome

  • Peripheral Nerve Hyperexcitability

  • Ea

  • Peripheral Nerve Hyperexcitability Syndrome

  • Ataxia, Episodic

  • Isaacs Neuromyotonia

  • Continuous Muscle Fibre Activity

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Spinal Muscular Atrophy
  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]

Movement Disease
  • Movement Disorders

  • Movement Disorder

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

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

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Canis familiaris TBP VGNC VGNC:47164
Rattus norvegicus TBP RGD RGD:67398
Mus musculus TBP MGD MGI:101838
Felis catus TBP VGNC VGNC:97656
Macaca mulatta TBP VGNC VGNC:78110
Others TBP NCBI