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. Author manuscript; available in PMC: 2016 Oct 31.
Published in final edited form as: Clin Genet. 2010 Feb 11;77(6):511–524. doi: 10.1111/j.1399-0004.2010.01392.x

Table 3.

Characteristics of human septin loci and disease associations

Human Septin Alternative Names Human Chromosome Location Expression Disease Associations
SEPT1 DIFF6 16p11.1 Brain, Lymphocytes, Others Alzheimer’s disease, Leukemia, Lymphoma
SEPT2 NEDD5, DIFF6 2q37 Brain, Lymphocytes, Others Brain, Liver and Renal cancer, Von Hippel-Lindau syndrome, Alzheimer’s disease
Shigella and Listeria infections
SEPT3 SEP3, G-SEPTIN 22q13.2 Brain-specific Brain cancer, Alzheimer’s disease
SEPT4 ARTS, H5, PNUTL2, BRADEION, SEP4 17q22 Brain, Testes, Eye, Lymphocytes Alzheimer’s disease, Skin, Urogenital and Colon cancer, Leukemia, Male infertility (spermatogenesis defect)
SEPT5 CDCREL-1, PNUTL1 22q11.21 Brain, Eye, Platelets Leukemia, Parkinson’s disease, Schizophrenia, Pancreatic Cancer
SEPT6 SEP2, KIAA0128 Xq24 Ubiquitous Schizophrenia, Leukemia, Hepatitis C
SEPT7 CDC10 7q36.1 Brain, Testes Nervous system cancers, Male infertility (spermatogenesis defect)
SEPT8 KIAA0202 5q31 Brain, Retina and others Retinal Degeneration
SEPT9 MSF, PNUTL4 AF17Q25, OvBrSEPT, SINT1, KIAA0991 17q25 Ubiquitous Hereditary Neuralgic Amyotrophy, Leukemia, Breast, Ovarian and Colorectal cancers, Head and Neck cancers, classical Hodgkin lymphoma, Shigella and Listeria infections
SEPT10 SEPT1-like 2q13 Ubiquitous -
SEPT11 FLJ10849 4q21.1 Ubiquitous Schizophrenia, Bipolar Disorder, Leukemia, Shigella and Listeria infections
SEPT12 FLJ25410 16p13.3 Lymphocytes, Testes Male Infertility (spermatogenesis defect)
SEPT13 - 7p13 Ubiquitous -
SEPT14 - 7q11 Testes -