1. Gene
  2. HEATR5B - HEAT repeat containing 5B Gene

HEATR5B - HEAT repeat containing 5B Gene

Homo sapiens

Also known as p200; p200a

Gene ID: 54497 | Gene type: protein coding

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
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

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