RTN2 - reticulon 2 Gene

Also Known as NSP2; NSPL1; NSPLI; SPG12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6253

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15286784 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of amyloid-beta formation IDA
IDA: Inferred from direct assay
15286784 GOA
Cellular Component GO Annotation Evidence References 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

RTN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RTN2 O75298 RTN4 Homo sapiens Q9NQC3 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

RTN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810255 Rtn-2 Antibody (YA9599) WB, IP, ELISA human

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

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
Others RTN2 NCBI