1. Gene
  2. SNX10 - sorting nexin 10 Gene

SNX10 - sorting nexin 10 Gene

Homo sapiens

Also known as OPTB8

Gene ID: 29887 | Gene type: protein coding

About SNX10

Cytogenetic location: 7p15.2 Genomic coordinates (GRCh38): 7:26,291,862-26,374,383 (from NCBI)

This gene has 27 transcripts (splice variants), 278 orthologues, 15 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 20.5), appendix (RPKM 13.4) and 19 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 does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

SNX10 Products(8)

mRNA Protein Name
NM_001199835.1 NP_001186764.1 sorting nexin-10 isoform 1
NM_001199837.3 NP_001186766.1 sorting nexin-10 isoform 2
NM_001199838.2 NP_001186767.1 sorting nexin-10 isoform 3
NM_001318198.1 NP_001305127.1 sorting nexin-10 isoform 4
NM_001318199.3 NP_001305128.1 sorting nexin-10 isoform 1
NM_001362753.1 NP_001349682.1 sorting nexin-10 isoform 4
NM_001362754.1 NP_001349683.1 sorting nexin-10 isoform 4
NM_013322.3 NP_037454.2 sorting nexin-10 isoform 1

SNX10 Protein Structure

PX

PX: PX domain (12 - 123)

  • 0
  • 100
  • 201 a.a.
Protein Preferred Names Protein Names

sorting nexin-10

Related Diseases

Diseases Alias
Osteopetrosis, Autosomal Recessive 8

Autosomal Recessive Osteopetrosis 8

OPTB8

Osteopetrosis, Autosomal Recessive, Type 8

Autosomal Recessive Malignant Osteopetrosis

Infantile Malignant Osteopetrosis

Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Osteopetrosis, Autosomal Recessive 2

OPTB2

Autosomal Recessive Osteopetrosis 2

Osteopetrosis, Mild Autosomal Recessive Form

Osteoclast-Poor Osteopetrosis

Osteopetrosis, Osteoclast-Poor

Mild Autosomal Recessive Form Osteopetrosis

Osteopetrosis Autosomal Recessive 2

Autosomal Recessive Osteopetrosis Type 2

Osteopetrosis Osteoclast-Poor

Osteopetrosis, Autosomal Recessive, Type 2

Pycnodysostosis

Pyknodysostosis

PKND

Pycd

Toulouse-Lautrec Syndrome

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 SNX10 VGNC VGNC:77705
Bos taurus SNX10 VGNC VGNC:35091
Mus musculus SNX10 MGD MGI:1919232
Felis catus SNX10 VGNC VGNC:102706
Rattus norvegicus SNX10 RGD RGD:1305782
Canis familiaris SNX10 VGNC VGNC:46620