1. Gene
  2. SNX5 - sorting nexin 5 Gene

SNX5 - sorting nexin 5 Gene

Homo sapiens
Gene ID: 27131 | Gene type: protein coding

About SNX5

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:17,941,600-17,968,794 (from NCBI)

This gene has 19 transcripts (splice variants), 227 orthologues and 15 paralogues. Ubiquitous expression in thyroid (RPKM 76.1), kidney (RPKM 52.7) and 24 other tissues.

Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

SNX5 Products(3)

mRNA Protein Name
NM_001282454.2 NP_001269383.1 sorting nexin-5 isoform b
NM_014426.4 NP_055241.1 sorting nexin-5 isoform a
NM_152227.3 NP_689413.1 sorting nexin-5 isoform a

SNX5 Protein Structure

PX

PX: PX domain (29 - 168)

Vps5

Vps5: Vps5 C terminal like (180 - 344)

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  • 404 a.a.
Protein Preferred Names Protein Names

sorting nexin-5

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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
Macaca mulatta SNX5 VGNC VGNC:98451
Rattus norvegicus SNX5 RGD RGD:1310190
Canis familiaris SNX5 VGNC VGNC:46642
Mus musculus SNX5 MGD MGI:1916428
Felis catus SNX5 VGNC VGNC:65558