Shwachman syndrome

Gene Information

Names

HUGO name: SBDS

Alias(es):

  • CGI-97
  • FLJ10917
  • SDS
  • SWDS
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman-Bodian-Diamond syndrome protein (CGI-97)

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Might possibly play a role in RNA metabolism.

Tissue specificity:

Widely expressed.

Similarity:

Belongs to the upf0023 family.

Expression

Expression pattern for human

Tissue Expression (%) Clones
whole peripheral blood 98.06 2:8
small intestine 0.21 3:5498
human embryonic stem cells differentiated to an early endodermal cell type 0.20 2:3937
hippocampus 0.18 1:2148
adrenal gland 0.15 1:2677
cerebellum 0.12 1:3339
pericardium 0.10 1:3970
peripheral_nervous_system 0.07 4:21972
thymus 0.07 1:5542
stomach 0.06 12:75571

Animal models

Mouse