BTBD10 - BTB domain containing 10 Gene

Homo sapiens

Also known as GMRP1; GMRP-1

Gene ID: 84280 | Gene type: protein coding

About BTBD10

Cytogenetic location: 11p15.3 Genomic coordinates (GRCh38): 11:13,388,008-13,463,222 (from NCBI)

This gene has 11 transcripts (splice variants), 294 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 14.0), brain (RPKM 12.4) and 24 other tissues.

Summary

Predicted to be involved in negative regulation of neuron death; positive regulation of phosphorylation; and type B pancreatic cell proliferation. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

BTBD10 Products(3)

mRNA	Protein	Name
NM_001297741.2	NP_001284670.1	BTB/POZ domain-containing protein 10 isoform 3
NM_001297742.2	NP_001284671.1	BTB/POZ domain-containing protein 10 isoform 1
NM_032320.7	NP_115696.2	BTB/POZ domain-containing protein 10 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21145461	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

Protein Preferred Names

Protein Names

BTB/POZ domain-containing protein 10

BTB (POZ) domain containing 10

Related Diseases

Diseases

Alias

Progressive Myoclonus Epilepsy 1a

Epm1a

Progressive Myoclonus Epilepsy 3

Cln14 Disease	Epm3
Neuronal Ceroid Lipofuscinosis 14	Pme Type 3
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency	Progressive Myoclonus Epilepsy Type 3
Epilepsy, Progressive Myoclonic 3

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

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-RS01653	BTBD10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BTBD10	VGNC	VGNC:60195
Mus musculus	BTBD10	MGD	MGI:1916065
Macaca mulatta	BTBD10	VGNC	VGNC:70361
Bos taurus	BTBD10	VGNC	VGNC:26584
Canis familiaris	BTBD10	VGNC	VGNC:38546
Rattus norvegicus	BTBD10	RGD	RGD:1306301

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