sh3bp2 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (61)

Interactants (10)

XB-GENEPAGE-995051

Gene Symbol: sh3bp2 Gene Name: SH3-domain binding protein 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (23 sources): Abnormal mandible morphology, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the voice, Bone cyst, Broad jaw, Constriction of peripheral visual field, Feeding difficulties in infancy, Full cheeks, Lower eyelid retraction, Macular scar, Marcus Gunn pupil, Obstructive sleep apnea, Oligodontia, Optic atrophy, Optic neuropathy, Progressive visual loss, Proptosis, Reduced visual acuity, Round face, Striae distensae, Upper airway obstruction, Visual impairment [+]
Mouse (43 sources): abnormal circulating cytokine level, abnormal craniofacial bone morphology, abnormal enzyme/coenzyme level, abnormal immune system organ morphology, abnormal interleukin-6 secretion, abnormal macrophage physiology, abnormal marginal zone B cell physiology, abnormal neurocranium morphology, abnormal osteoclast differentiation, abnormal osteoclast physiology, abnormal skeleton physiology, abnormal spleen marginal zone morphology, decreased B cell proliferation, decreased B-1 B cell number, decreased IgG1 level, decreased IgG3 level, decreased bone trabecula number, decreased pro-B cell number, decreased trabecular bone volume, decreased transitional stage B cell number, decreased tumor necrosis factor secretion, dermatitis, enlarged lymph nodes, head/neck swellings, immune system phenotype, impaired macrophage phagocytosis, increased B cell apoptosis, increased bone mass, increased bone trabecula number, increased circulating interleukin-12 level, increased circulating interleukin-6 level, increased circulating tumor necrosis factor level, increased compact bone thickness, increased marginal zone B cell number, increased osteoblast cell number, increased osteoclast cell number, increased pre-B cell number, increased spleen red pulp amount, increased trabecular bone thickness, increased trabecular bone volume, increased tumor necrosis factor secretion, premature death, spinal cord inflammation [+]
View all ortholog results at Monarch