BTBD10 - BTB domain containing 10 Gene

Also Known as GMRP1; GMRP-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84280

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
Molecular Function GO Annotation Evidence References 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

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
Others BTBD10 NCBI