1. Gene
  2. ANKRD27 - ankyrin repeat domain 27 Gene

ANKRD27 - ankyrin repeat domain 27 Gene

Homo sapiens

Also known as VARP; PP12899

Gene ID: 84079 | Gene type: protein coding

About ANKRD27

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,597,006-32,675,180 (from NCBI)

This gene has 9 transcripts (splice variants) and 210 orthologues. Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 8.9) and 25 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in endosome; lysosome; and plasma membrane. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Apr 2022]

ANKRD27 Products(1)

mRNA Protein Name
NM_032139.3 NP_115515.2 ankyrin repeat domain-containing protein 27

ANKRD27 Protein Structure

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (266 - 364)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (467 - 554)

Ank

Ank: Ankyrin repeat (565 - 595)

Ank

Ank: Ankyrin repeat (743 - 774)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (781 - 871)

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  • 800
  • 1050 a.a.
Protein Preferred Names Protein Names

ankyrin repeat domain-containing protein 27

VPS9 domain-containing protein

Related Diseases

Diseases Alias
Esophagitis

Acute Esophagitis

Parastremmatic Dwarfism

Parastremmatic Dysplasia

PSTD

Dwarfism, Parastremmatic

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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 ANKRD27 VGNC VGNC:59804
Canis familiaris ANKRD27 VGNC VGNC:37892
Rattus norvegicus ANKRD27 RGD RGD:1307106
Mus musculus ANKRD27 MGD MGI:2444103
Bos taurus ANKRD27 VGNC VGNC:25919
Macaca mulatta ANKRD27 VGNC VGNC:69693