SEPTIN9 - septin 9 Gene

Homo sapiens

Also known as MSF; MSF1; NAPB; SEPT9; SINT1; PNUTL4; SeptD1; AF17q25

Gene ID: 10801 | Gene type: protein coding

About SEPTIN9

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:77,281,499-77,500,596 (from NCBI)

This gene has 48 transcripts (splice variants), 1 gene allele, 281 orthologues, 12 paralogues and is associated with 73 phenotypes. Ubiquitous expression in spleen (RPKM 19.8), lymph node (RPKM 19.8) and 25 other tissues.

Summary

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]

SEPTIN9 Products(11)

mRNA	Protein	Name
NM_001113491.2	NP_001106963.1	septin-9 isoform a
NM_001113492.2	NP_001106964.1	septin-9 isoform e
NM_001113493.2	NP_001106965.1	septin-9 isoform b
NM_001113494.1	NP_001106966.1	septin-9 isoform e
NM_001113495.2	NP_001106967.2	septin-9 isoform f
NM_001113496.2	NP_001106968.1	septin-9 isoform f
NM_001293695.2	NP_001280624.1	septin-9 isoform g
NM_001293696.2	NP_001280625.1	septin-9 isoform h
NM_001293697.2	NP_001280626.1	septin-9 isoform f
NM_001293698.2	NP_001280627.1	septin-9 isoform f
NM_006640.5	NP_006631.2	septin-9 isoform c

SEPTIN9 Protein Structure

Septin

0
100
200
300
400
500
586 a.a.

Protein Preferred Names

Protein Names

septin-9

MLL septin-like fusion protein MSF-A

Related Diseases

Diseases

Alias

Amyotrophy, Hereditary Neuralgic

Hereditary Neuralgic Amyotrophy	Neuritis With Brachial Predilection
HNA	Napb
Brachial Plexus Neuropathy, Hereditary	Hereditary Brachial Plexus Neuropathy
Amyotrophy, Hereditary Neuralgic, With Predilection For Brachial Plexus	Brachial Neuralgia
Brachial Plexus Neuritis	Neuralgic Amyotrophy
Amyotrophic Neuralgia	Brachial Neuritis
Familial Brachial Plexus Neuritis	Heredofamilial Neuritis With Brachial Plexus Predilection
Shoulder Girdle Neuropathy	Hereditary Neuralgic Amyotrophy With Predilection For Brachial Plexus
Amyotrophy, Neuralgic, Hereditary	Acute Brachial Neuritis

Amyotrophic Neuralgia

Neuralgic Amyotrophy	Brachial Plexus Neuritis
Neuralgic Shoulder Amyotrophy	Acute Brachial Plexus Neuritis
Immune Brachial Plexus Neuropathy	Mononeuritis Multiplex With Brachial Predilection
Parsonage-Turner Syndrome

Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia	Acute Megakaryoblastic Leukaemia
Megakaryocytic Myelosis	Thrombocytic Leukaemia
Amkl	Aml M7
Acute Myeloblastic Leukemia Type 7	Acute Myeloid Leukemia M7
Megakaryoblastic Leukemia Acute	Leukemia, Megakaryoblastic, Acute
Acute Myeloid Leukaemia, M7	Acute Megakaryocytic Leukaemia
Acute Megakaryoblastic Leukaemia, Fab M7	Fab M7
Malignant Megakaryocytosis	M7 - Acute Megakaryoblastic Leukaemia
Megakaryoblastic Leukaemia	Megakaryocytic Leukaemia
Acute Megakaryoblastic Leukaemia, Nos	Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Brachial Plexus Neuropathy

Brachial Plexopathy	Brachial Plexus Neuropathies
Brachial Plexus Disorder	Bpn - [Brachial Plexus Neuropathy]
Brachial Plexus Disease	Neuropathic Plexus Brachialis
Brachial Plexus Syndrome	Brachial Plexus Irritation
Brachial Plexus Lesion	Brachial Plexus Pressure
Compression Of Brachial Plexus

Brachial Plexus Neuritis

Brachial Neuritis

Parsonage-Aldren-Turner Syndrome

Acute Myelomonocytic Leukemia

Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16	16)(P13
Q22)	Aml M4
Ammol	Acute Myeloblastic Leukemia Type 4
Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16	16)(P13
Q22)	Aml-M4
Aml With Inv(16)(P13.1q22) Or T(16	16)(P13.1
Q22)	Cbfb-Myh11
Leukemia Myelomonocytic Acute	Leukemia, Myelomonocytic, Acute
Acute Myelomonocytic Leukaemia Without Mention Of Remission	Myelomonocytic Leukaemia Nos

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Neuritis

Peripheral Neuritis

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Plexopathy

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Thoracic Outlet Syndrome

Tos	Tos - Thoracic Outlet Syndrome
Thoracic Outlet Syndromes	Thoracic Outlet Compression Syndrome

Villous Adenoma

Adenoma Villous

Adenoma, Villous

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12685	SEPTIN9 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SEPTIN9	VGNC	VGNC:34459
Mus musculus	SEPTIN9	MGD	MGI:1858222
Macaca mulatta	SEPTIN9	VGNC	VGNC:99253
Canis familiaris	SEPTIN9	VGNC	VGNC:106609
Felis catus	SEPTIN9	VGNC	VGNC:99448
Rattus norvegicus	SEPTIN9	RGD	RGD:708523

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