1. Gene
  2. ANKRD50 - ankyrin repeat domain containing 50 Gene

ANKRD50 - ankyrin repeat domain containing 50 Gene

Homo sapiens
Gene ID: 57182 | Gene type: protein coding

About ANKRD50

Cytogenetic location: 4q28.1 Genomic coordinates (GRCh38): 4:124,664,048-124,712,732 (from NCBI)

This gene has 2 transcripts (splice variants) and 230 orthologues. Ubiquitous expression in testis (RPKM 9.1), urinary bladder (RPKM 8.9) and 24 other tissues.

Summary

Involved in endocytic recycling. Predicted to be located in endosome. [provided by Alliance of Genome Resources, Apr 2022]

ANKRD50 Products(2)

mRNA Protein Name
NM_001167882.2 NP_001161354.1 ankyrin repeat domain-containing protein 50 isoform 2
NM_020337.3 NP_065070.1 ankyrin repeat domain-containing protein 50 isoform 1

ANKRD50 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (495 - 575)

Ank

Ank: Ankyrin repeat (577 - 608)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (627 - 707)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (720 - 808)

Ank_4

Ank_4: Ankyrin repeats (many copies) (814 - 867)

Ank

Ank: Ankyrin repeat (879 - 909)

Ank

Ank: Ankyrin repeat (912 - 943)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (952 - 1039)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1041 - 1102)

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  • 1429 a.a.
Protein Preferred Names Protein Names

ankyrin repeat domain-containing protein 50

ankyrin repeat domain 50

Related Diseases

Diseases Alias
Rumination Disorder

Rumination Syndrome

Psychogenic Rumination

Rumination Disorders

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Canis familiaris ANKRD50 VGNC VGNC:37907
Rattus norvegicus ANKRD50 RGD RGD:1311665
Bos taurus ANKRD50 VGNC VGNC:25934
Mus musculus ANKRD50 MGD MGI:2139777
Macaca mulatta ANKRD50 VGNC VGNC:69734
Felis catus ANKRD50 VGNC VGNC:59813