SNX14 - sorting nexin 14 Gene

Also Known as SCAR20; RGS-PX2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57231

About SNX14

Cytogenetic location: 6q14.3 Genomic coordinates (GRCh38): 6:85,505,496-85,593,858 (from NCBI)

This gene has 97 transcripts (splice variants), 265 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 30.0), thyroid (RPKM 16.2) and 25 other tissues.

Summary

This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

SNX14 Products (26)

mRNA Protein Name
NM_001297614.3 NP_001284543.1 sorting nexin-14 isoform c
NM_001304479.2 NP_001291408.1 sorting nexin-14 isoform d
NM_001350532.2 NP_001337461.1 sorting nexin-14 isoform e
NM_001350533.2 NP_001337462.1 sorting nexin-14 isoform f
NM_001350534.2 NP_001337463.1 sorting nexin-14 isoform g
NM_001350535.2 NP_001337464.1 sorting nexin-14 isoform h
NM_001350536.2 NP_001337465.1 sorting nexin-14 isoform i
NM_001350537.2 NP_001337466.1 sorting nexin-14 isoform j
NM_001350538.2 NP_001337467.1 sorting nexin-14 isoform k
NM_001350539.2 NP_001337468.1 sorting nexin-14 isoform l precursor
NM_001350540.2 NP_001337469.1 sorting nexin-14 isoform m
NM_001350541.2 NP_001337470.1 sorting nexin-14 isoform n
NM_001350542.2 NP_001337471.1 sorting nexin-14 isoform o precursor
NM_001350543.2 NP_001337472.1 sorting nexin-14 isoform p precursor
NM_001350544.2 NP_001337473.1 sorting nexin-14 isoform q precursor
NM_001350545.2 NP_001337474.1 sorting nexin-14 isoform r
NM_001350546.2 NP_001337475.1 sorting nexin-14 isoform r
NM_001350547.2 NP_001337476.1 sorting nexin-14 isoform s
NM_001350548.2 NP_001337477.1 sorting nexin-14 isoform t
NM_001350549.2 NP_001337478.1 sorting nexin-14 isoform t
NM_001350550.2 NP_001337479.1 sorting nexin-14 isoform t
NM_001350551.2 NP_001337480.1 sorting nexin-14 isoform t
NM_001350552.2 NP_001337481.1 sorting nexin-14 isoform t
NM_001350553.2 NP_001337482.1 sorting nexin-14 isoform u
NM_020468.6 NP_065201.1 sorting nexin-14 isoform b
NM_153816.6 NP_722523.1 sorting nexin-14 isoform a
Molecular Function GO Annotation Evidence References Source
enables phosphatidylinositol-3,5-bisphosphate binding IDA
IDA: Inferred from direct assay
25848753 GOA
Biological Process GO Annotation Evidence References Source
involved in autophagosome maturation IMP
IMP: Inferred from mutant phenotype
25848753 GOA
Cellular Component GO Annotation Evidence References Source
located in late endosome IDA
IDA: Inferred from direct assay
25848753 GOA
located in lysosome IDA
IDA: Inferred from direct assay
25848753 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

SNX14 Protein Structure

PXA

PXA: PXA domain (130 - 302)

RGS

RGS: Regulator of G protein signaling domain (337 - 464)

PX

PX: PX domain (583 - 685)

Nexin_C

Nexin_C: Sorting nexin C terminal (807 - 912)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 946 a.a.
Protein Preferred Names Protein Names

sorting nexin-14

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, Autosomal Recessive 20
  • Autosomal Recessive Spinocerebellar Ataxia 20

  • SCAR20

  • Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome

  • Autosomal Recessive Spinocerebellar Ataxia Type 20

  • Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive, 20

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 20

Intellectual Developmental Disorder, Autosomal Dominant 38
  • Psychomotor Retardation, Epilepsy, And Language Disability Syndrome

  • MRD38

  • Prelds

  • Autosomal Dominant Non-Syndromic Intellectual Disability 38

  • Mental Retardation, Autosomal Dominant 38

  • Autosomal Dominant Intellectual Developmental Disorder 38

  • Autosomal Dominant Mental Retardation 38

  • Mental Retardation, Autosomal Dominant, Type 38

Vici Syndrome
  • Absent Corpus Callosum Cataract Immunodeficiency

  • VICIS

  • Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum

  • Dionisi Vici Sabetta Gambarara Syndrome

  • Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum

  • Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome

  • Dionisi-Vici-Sabetta-Gambarara Syndrome

  • Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum

Hereditary Spastic Paraplegia 51
  • Autosomal Dominant Spastic Paraplegia 51

  • Cpsq4

  • Spastic Quadriplegic Cerebral Palsy 4

  • Spg51

  • Spastic Paraplegia 51, Autosomal Recessive

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Hereditary Spastic Paraplegia 49
  • Autosomal Recessive Spastic Paraplegia Type 49

  • Autosomal Recessive Spastic Paraplegia 49

  • Spg49

  • Paraplegia, Spastic, Type 49, Autosomal Recessive

Neurodegeneration With Brain Iron Accumulation 5
  • NBIA5

  • Beta-Propeller Protein-Associated Neurodegeneration

  • Bpan

  • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

  • Senda

  • Neurodegeneration With Brain Iron Accumulation Type 5

  • Neurodegeneration With Brain Iron Accululation 5

  • Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

  • Neurodegeneration, With Brain Iron Accululation, Type 5

Boucher-Neuhauser Syndrome
  • Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

  • BNHS

  • Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy

  • Boucher-Neuhäuser Syndrome

  • Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism

  • Ataxia - Hypogonadism - Choroidal Dystrophy

  • Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism

  • Bns

  • Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome

  • Boucher Neuhauser Syndrome

Alcohol-Related Neurodevelopmental Disorder
  • Static Encephalopathy

  • Arnd

  • Encephalopathy, Static

  • Alcohol Related Neurodevelopmental Disorder

Spinal Cord Lymphoma
  • Lymphoma Of The Spinal Cord

  • Spinal Cord Cancer

  • Spine Lymphoma

  • Spinal Cord--Cancer

Choreoacanthocytosis
  • Chorea-Acanthocytosis

  • CHAC

  • Acanthocytosis With Neurologic Disorder

  • Levine-Critchley Syndrome

  • Choreaacanthocytosis

  • Chorea Acanthocytosis

  • Neuroacanthocytosis

  • Levine-Critchley Syndrome, Formerly

  • Neuroacanthocytosis, Formerly

  • Choreo-Acanthocytosis

  • Acanthocytosis Chorea

  • Chorea Acanthocytosis Syndrome

Neurodegeneration With Brain Iron Accumulation
  • Nbia

  • Neurodegeneration With Brain Iron Accumulation Disorders

  • Neurodegeneration, With Brain Iron Accumulation

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

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

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
Mus musculus SNX14 MGD MGI:2155664
Bos taurus SNX14 VGNC VGNC:35094
Felis catus SNX14 VGNC VGNC:65545
Rattus norvegicus SNX14 RGD RGD:1310921
Canis familiaris SNX14 VGNC VGNC:46623
Macaca mulatta SNX14 VGNC VGNC:77708
Others SNX14 NCBI