2. Gene
  3. SEPTIN4 - septin 4 Gene

SEPTIN4 - septin 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as H5; ARTS; MART; SEP4; CE5B3; SEPT4; PNUTL2; hucep-7; BRADEION; C17orf47; hCDCREL-2

Gene ID: 5414 | Gene type: protein coding

About SEPTIN4

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,520,256-58,544,328 (from NCBI)

This gene has 33 transcripts (splice variants) and 60 orthologues. Biased expression in brain (RPKM 37.9), adrenal (RPKM 26.6) and 11 other tissues.

Summary

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in Apoptosis and Cancer. [provided by RefSeq, Nov 2010]

SEPTIN4 Products(10)

mRNA Protein Name
NM_001038704.4 NP_001033793.3 septin-4 isoform 13
NM_001198713.2 NP_001185642.1 septin-4 isoform 4
NM_001256782.2 NP_001243711.1 septin-4 isoform 5
NM_001256822.2 NP_001243751.1 septin-4 isoform 6
NM_001363803.2 NP_001350732.1 septin-4 isoform 7
NM_001368771.2 NP_001355700.1 septin-4 isoform 11
NM_001368772.2 NP_001355701.1 septin-4 isoform 12
NM_004574.5 NP_004565.1 septin-4 isoform 1
NM_080415.4 NP_536340.1 septin-4 isoform 2
NM_080416.4 NP_536341.1 septin-4 isoform 3

SEPTIN4 Protein Structure

Septin

Septin: Septin (141 - 417)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 478 a.a.
Protein Preferred Names Protein Names

septin-4

CE5B3 beta

Related Diseases

Diseases Alias
American Histoplasmosis

Infection By Histoplasma Capsulatum
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
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
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility
Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
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-RS12683 SEPTIN4 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SEPTIN4 VGNC VGNC:55818
Mus musculus SEPTIN4 MGD MGI:1270156
Rattus norvegicus SEPTIN4 RGD RGD:1308781
Bos taurus SEPTIN4 VGNC VGNC:34456