1. Gene
  2. SNX14 - sorting nexin 14 Gene

SNX14 - sorting nexin 14 Gene

Homo sapiens

Also known as SCAR20; RGS-PX2

Gene ID: 57231 | Gene type: protein coding

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

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)

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  • 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