2. Gene
  3. RTN2 - reticulon 2 Gene

RTN2 - reticulon 2 Gene

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

Also known as NSP2; NSPL1; NSPLI; SPG12

Gene ID: 6253 | Gene type: protein coding

About RTN2

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,485,294-45,497,047 (from NCBI)

This gene has 14 transcripts (splice variants), 189 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 9.6), placenta (RPKM 7.1) and 22 other tissues.

Summary

This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]

RTN2 Products(3)

mRNA Protein Name
NM_005619.5 NP_005610.1 reticulon-2 isoform A
NM_206900.3 NP_996783.1 reticulon-2 isoform B
NM_206901.3 NP_996784.1 reticulon-2 isoform C
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15286784 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of amyloid-beta formation IDA
IDA: Inferred from direct assay
15286784 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
22232211 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

RTN2 Protein Structure

Reticulon

Reticulon: Reticulon (345 - 514)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 545 a.a.
Protein Preferred Names Protein Names

reticulon-2

NSP-like protein 1

Related Diseases

Diseases Alias
Spastic Paraplegia 12, Autosomal Dominant

SPG12

Hereditary Spastic Paraplegia 12

Autosomal Dominant Spastic Paraplegia Type 12

Autosomal Dominant Spastic Paraplegia 12

Spastic Paraplegia 12

Spastic Paraplegia-12

Paraplegia, Spastic, Autosomal Dominant, Type 12
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 61, Autosomal Recessive

SPG61

Hereditary Spastic Paraplegia 61

Autosomal Recessive Spastic Paraplegia Type 61

Autosomal Recessive Spastic Paraplegia 61

Paraplegia, Spastic, Type 61, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive

SPG57

Hereditary Spastic Paraplegia 57

Autosomal Recessive Spastic Paraplegia Type 57

Autosomal Recessive Spastic Paraplegia 57

Spastic Paraplegia Due To Partial Tfg Deficiency

Paraplegia, Spastic, Type 57, Autosomal Recessive
Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a

SPG9A

Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

Ad-Spg9a

Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

Autosomal Dominant Complex Spastic Paraplegia Type 9a

Autosomal Dominant Spastic Paraplegia 9a

Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

Autosomal Dominant Spastic Paraplegia Type 9a

Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 62, Autosomal Recessive

SPG62

Hereditary Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia Type 62

Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia 62

Paraplegia, Spastic, Type 62
Spastic Paraplegia 18, Autosomal Recessive

SPG18

Idmdc

Hereditary Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction, And Joint Contractures

Autosomal Recessive Spastic Paraplegia Type 18

Autosomal Recessive Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction And Joint Contractures

Spastic Paraplegia 18

Intellectual Disability Motor Dysfunction And Joint Contractures

Paraplegia, Spastic, Type 18
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2
Microcephaly, Seizures, And Developmental Delay

MCSZ

Developmental And Epileptic Encephalopathy 10

Epileptic Encephalopathy, Early Infantile, 10

Eiee10

Dee10

Early Infantile Epileptic Encephalopathy 10
Spastic Paraplegia 13, Autosomal Dominant

SPG13

Hereditary Spastic Paraplegia 13

Autosomal Dominant Spastic Paraplegia 13

Spastic Paraplegia 13

Autosomal Dominant Spastic Paraplegia Type 13

Spastic Paraplegia-13

Paraplegia, Spastic, Type 13
Spastic Paraplegia 4, Autosomal Dominant

SPG4

Hereditary Spastic Paraplegia 4

Fsp2

Autosomal Dominant Spastic Paraplegia Type 4

Familial Spastic Paraplegia, Autosomal Dominant, 2

Autosomal Dominant Spastic Paraplegia 4

Familial Spastic Paraplegia Autosomal Dominant 2

Paraplegia, Spastic, Autosomal Dominant, Type 4
Spastic Paraplegia 73, Autosomal Dominant

SPG73

Hereditary Spastic Paraplegia 73

Autosomal Dominant Spastic Paraplegia Type 73

Autosomal Dominant Spastic Paraplegia 73

Paraplegia, Spastic, Autosomal Dominant, Type 73
Spastic Paraplegia 5a, Autosomal Recessive

SPG5A

Hereditary Spastic Paraplegia 5a

Autosomal Recessive Spastic Paraplegia 5a

Autosomal Recessive Spastic Paraplegia Type 5a

Spastic Paraplegia 5a

Spastic Paraplegia Type 5a

Spastic Paraplegia Type 5a, Recessive

Autosomal Recessive Spastic Paraplegia

Spastic Paraplegia-5a

Paraplegia, Spastic, Autosomal Recessive, Type 5a
Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome

SPG20

Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Autosomal Recessive Spastic Paraplegia Type 20

Autosomal Recessive Hereditary Spastic Paraplegia

Spastic Paraplegia 20

Cross-Mckusick Syndrome

Autosomal Recessive Spastic Paraplegia 20

Autosomal Recessive Spastic Paraplegia Troyer Type

Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

Hereditary Spastic Paraplegia 20

Spastic Paraplegia Type 20

Hereditary Spastic Paraplegia

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

Spastic Paraplegia Autosomal Recessive Troyer Type

Trs

Spastic Paraplegia Hereditary Autosomal Recessive

Spastic Paraplegia, Hereditary
Nescav Syndrome

NESCAVS

Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment

Mrd9

Intellectual Disability, Autosomal Dominant 9

Mental Retardation, Autosomal Dominant 9, Formerly

Mrd9, Formerly

Autosomal Dominant Intellectual Disability 9

Autosomal Dominant Non-Syndromic Intellectual Disability 9

Mental Retardation, Autosomal Dominant 9
Spastic Paraplegia 31, Autosomal Dominant

SPG31

Hereditary Spastic Paraplegia 31

Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia Type 31

Spastic Paraplegia Type 31

Paraplegia, Spastic, Autosomal Dominant, Type 31
Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10
Neuropathy, Hereditary Sensory, Type Iic

HSN2C

Hereditary Sensory Neuropathy Type 2c

Hereditary Sensory Neuropathy Type Iic

Neuropathy, Hereditary Sensory, Type 2c

Neuropathy, Hereditary Sensory, 2c

Hsn Iice

Neuropathy, Sensory, Hereditary, Type Iic
Masa Syndrome

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

SPG1

Gareis-Mason Syndrome

Spastic Paraplegia 1, X-Linked

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

L1cam Syndrome

Spastic Paraplegia 1

Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

Clasped Thumb And Mental Retardation

Thumb, Congenital Clasped, With Mental Retardation

Adducted Thumb With Mental Retardation

Hereditary Spastic Paraplegia 1

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

X-Linked Corpus Callosum Agenesis

X-Linked Spastic Paraplegia 1

L1 Disease

X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

Adducted Thumb With Intellectual Disability

Clasped Thumb And Intellectual Disability

Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

Thumb Congenital Clasped With Intellectual Disability

X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

Adducted Thumbs-Mental Retardation Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Mental Retardation-Clasped Thumb Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia Type 1, X-Linked

MASA

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Crash

Masa Syndrome
Spastic Paraplegia 42, Autosomal Dominant

SPG42

Hereditary Spastic Paraplegia 42

Autosomal Dominant Spastic Paraplegia Type 42

Autosomal Dominant Spastic Paraplegia 42

Paraplegia, Spastic, Type 42, Autosomal Dominant
Spastic Ataxia

Spax

Ataxia, Spastic
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-RS12330 RTN2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris RTN2 VGNC VGNC:53971
Felis catus RTN2 VGNC VGNC:64811
Mus musculus RTN2 MGD MGI:107612
Rattus norvegicus RTN2 RGD RGD:1303245
Bos taurus RTN2 VGNC VGNC:34204
Macaca mulatta RTN2 VGNC VGNC:76944