HEATR5B - HEAT repeat containing 5B Gene

Also Known as p200; p200a

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54497

About HEATR5B

Cytogenetic location: 2p22.2 Genomic coordinates (GRCh38): 2:36,980,895-37,084,372 (from NCBI)

This gene has 5 transcripts (splice variants), 211 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 6.3), thyroid (RPKM 6.0) and 25 other tissues.

Summary

Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

HEATR5B Products (1)

mRNA Protein Name
NM_019024.3 NP_061897.1 HEAT repeat-containing protein 5B

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
30126976 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

HEAT repeat-containing protein 5B

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia

  • Pch

  • Congenital Pontocerebellar Hypoplasia

  • Opch

  • Hypoplasia, Pontocerebellar

  • Pontoneocerebellar Hypoplasia

  • Nonsyndromic Pontocerebellar Hypoplasia
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06103 HEATR5B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta HEATR5B VGNC VGNC:106171
Canis familiaris HEATR5B VGNC VGNC:41637
Felis catus HEATR5B VGNC VGNC:62778
Bos taurus HEATR5B VGNC VGNC:29795
Rattus norvegicus HEATR5B RGD RGD:1359216
Mus musculus HEATR5B MGD MGI:2444098
Others HEATR5B NCBI