SEPTIN2 - septin 2 Gene

Also Known as DIFF6; NEDD5; SEPT2; NEDD-5; Pnutl3; hNedd5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4735

About SEPTIN2

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:241,315,355-241,354,027 (from NCBI)

This gene has 45 transcripts (splice variants), 225 orthologues and 12 paralogues. Ubiquitous expression in fat (RPKM 77.8), thyroid (RPKM 76.6) and 25 other tissues.

Summary

Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; regulation of exocytosis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [provided by Alliance of Genome Resources, Apr 2022]

SEPTIN2 Products (31)

mRNA Protein Name
NM_001008491.3 NP_001008491.1 septin-2 isoform a
NM_001008492.3 NP_001008492.1 septin-2 isoform a
NM_001282972.2 NP_001269901.1 septin-2 isoform b
NM_001282973.2 NP_001269902.1 septin-2 isoform c
NM_001321029.2 NP_001307958.1 septin-2 isoform d
NM_001321030.3 NP_001307959.1 septin-2 isoform a
NM_001321031.2 NP_001307960.1 septin-2 isoform a
NM_001321032.2 NP_001307961.1 septin-2 isoform a
NM_001321033.3 NP_001307962.1 septin-2 isoform a
NM_001321034.2 NP_001307963.1 septin-2 isoform a
NM_001321035.2 NP_001307964.1 septin-2 isoform a
NM_001349287.2 NP_001336216.1 septin-2 isoform e
NM_001349288.2 NP_001336217.1 septin-2 isoform c
NM_001349289.2 NP_001336218.1 septin-2 isoform a
NM_001349290.2 NP_001336219.1 septin-2 isoform a
NM_001349291.2 NP_001336220.1 septin-2 isoform a
NM_001349302.2 NP_001336231.1 septin-2 isoform f
NM_001349304.2 NP_001336233.1 septin-2 isoform g
NM_001349305.2 NP_001336234.1 septin-2 isoform g
NM_001349306.2 NP_001336235.1 septin-2 isoform g
NM_001349307.2 NP_001336236.1 septin-2 isoform h
NM_001349308.2 NP_001336237.1 septin-2 isoform h
NM_001349309.2 NP_001336238.1 septin-2 isoform h
NM_001349310.2 NP_001336239.1 septin-2 isoform h
NM_001349311.2 NP_001336240.1 septin-2 isoform h
NM_001349312.2 NP_001336241.1 septin-2 isoform h
NM_001349313.2 NP_001336242.1 septin-2 isoform h
NM_001349314.2 NP_001336243.1 septin-2 isoform h
NM_001349315.2 NP_001336244.1 septin-2 isoform h
NM_004404.5 NP_004395.1 septin-2 isoform a
NM_006155.3 NP_006146.1 septin-2 isoform a
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
17637674 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10321247 GOA
Cellular Component GO Annotation Evidence References Source
located in axoneme IDA
IDA: Inferred from direct assay
23572511 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
10942595 GOA
located in non-motile cilium IDA
IDA: Inferred from direct assay
23572511 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10942595 GOA
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
23572511 GOA
part of septin complex IDA
IDA: Inferred from direct assay
23572511 GOA
located in sperm annulus IDA
IDA: Inferred from direct assay
25588830 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SEPTIN2 Protein Structure

Septin

Septin: Septin (34 - 312)

  • 0
  • 100
  • 200
  • 300
  • 361 a.a.
Protein Preferred Names Protein Names

septin-2

  • epididymis secretory sperm binding protein

SEPTIN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SEPTIN2 Q15019 SEPTIN5 Homo sapiens Q99719 35271311
Intra
SEPTIN2 Q15019 SEPTIN5 Homo sapiens Q99719 25416956
Intra
SEPTIN2 Q15019 SEPTIN5 Homo sapiens Q99719 25416956
Intra
SEPTIN2 Q15019 SEPTIN5 Homo sapiens Q99719 33961781
Intra
SEPTIN2 Q15019 SEPTIN6 Homo sapiens Q14141 35271311
Intra
SEPTIN2 Q15019 SEPTIN6 Homo sapiens Q14141 16189514
Intra
SEPTIN2 Q15019 SEPTIN6 Homo sapiens Q14141 33961781
Intra
SEPTIN2 Q15019 SEPTIN6 Homo sapiens Q14141
IF
25588830
Intra
SEPTIN2 Q15019 SEPTIN6 Homo sapiens Q14141 25416956
Intra
SEPTIN2 Q15019 SEPTIN9 Homo sapiens Q9UHD8 35271311
Intra
SEPTIN2 Q15019 SEPTIN9 Homo sapiens Q9UHD8 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

SEPTIN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82509 Septin 2 Antibody (YA2254) WB, IHC-P, ICC/IF, FC, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Integrative Agnosia
Pineal Region Meningioma
  • Pineal Meningioma

Progressive Myoclonus Epilepsy 10
  • Early-Onset Lafora Body Disease

  • Epm10

Acquired Color Blindness
  • Acquired Color Vision Deficiencies

  • Acquired Color Vision Deficiency

  • Acquired Colour Blindness

  • Acquired Colour Vision Deficiencies

  • Acquired Colour Vision Deficiency

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

Intracranial Hypotension
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

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

Orthologs Information

Species Symbol Source ID
Felis catus SEPTIN2 VGNC VGNC:68451
Rattus norvegicus SEPTIN2 RGD RGD:620056
Macaca mulatta SEPTIN2 VGNC VGNC:77359
Bos taurus SEPTIN2 VGNC VGNC:34454
Canis familiaris SEPTIN2 VGNC VGNC:46014
Mus musculus SEPTIN2 MGD MGI:97298
Others SEPTIN2 NCBI