1. Gene
  2. SLC38A8 - solute carrier family 38 member 8 Gene

SLC38A8 - solute carrier family 38 member 8 Gene

Homo sapiens

Also known as FVH2; SNAT8

Gene ID: 146167 | Gene type: protein coding

About SLC38A8

Cytogenetic location: 16q23.3 Genomic coordinates (GRCh38): 16:84,009,667-84,043,372 (from NCBI)

This gene has 4 transcripts (splice variants), 288 orthologues, 15 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]

SLC38A8 Products(1)

mRNA Protein Name
NM_001080442.3 NP_001073911.1 putative sodium-coupled neutral amino acid transporter 8

SLC38A8 Protein Structure

Aa_trans

Aa_trans: Transmembrane amino acid transporter protein (24 - 420)

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  • 435 a.a.
Protein Preferred Names Protein Names

putative sodium-coupled neutral amino acid transporter 8

Related Diseases

Diseases Alias
Foveal Hypoplasia 2

FVH2

Fhonda

Foveal Hypoplasia And Anterior Segment Dysgenesis

Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome

Foveal Hypoplasia 2 With Or Without Optic Nerve Misrouting And/Or Anterior Segment Dysgenesis

Foveal Hypoplasia 2 With Optic Nerve Decussation Defects And Anterior Segment Dysgenesis Without Albinism

Foveal Hypoplasia 2, With Or Without Optic Nerve Misrouting And/Or Anterior Segment Dysgenesis

Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome

Fhonda Syndrome

Foveal Hypoplasia, Optic Nerve Decussation Defects, And Anterior Segment Dysgenesis Without Albinism

Foveal Hypoplasia With Or Without Optic Nerve Misrouting And/Or Anterior Segment Dysgenesis

Foveal Hypoplasia 2 And Optic Nerve Misrouting With Or Without Anterior Segment Dysgenesis

Hypoplasia, Foveal, Type 2, With Or Without Optic Nerve Misrouting And/Or Anterior Segment Dysgenesis

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Developmental Defect Of The Eye
Pathologic Nystagmus

Nystagmus

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Nystagmus 6, Congenital, X-Linked

NYS6

Congenital Nystagmus 6

X-Linked Congenital Nystagmus 6

Nystagmus Congenital X-Linked 6

Nystagmus, Type 6, Congenital, X-Linked

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Bullous Retinoschisis
Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3

DEE3

Eiee3

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 3

Early Infantile Epileptic Encephalopathy 3

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 3

Night Blindness, Congenital Stationary, Type 1c

Congenital Stationary Night Blindness 1c

CSNB1C

Csnb, Complete, Autosomal Recessive

Night Blindness, Congenital Stationary , 1c, Autosomal Recessive

Congenital Stationary Night Blindness 1c Autosomal Recessive

Night Blindness, Congenital Stationary, 1c

Complete Autosomal Recessive Csnb

Night Blindness, Congenital Stationary, Type Ic

Blindness, Night, Stationary, Congenital, Type 1c

Retinitis Pigmentosa 68

RP68

Retinitis Pigmentosa, Type 68

Albinism, Oculocutaneous, Type Ii

OCA2

Oculocutaneous Albinism Type 2

Oculocutaneous Albinism Type Ii

Albinoidism

Tyrosinase-Positive Oculocutaneous Albinism

Brown Oculocutaneous Albinism

Oculocutaneous Albinism, Tyrosinase-Positive

Albinism Ii

Albinism, Brown Oculocutaneous

Oculocutaneous Albinism, Type Ii, Modifier Of

Oculocutaneous Albinism, Type Ii

Albinism, Oculocutaneous, Type Ii, Modifier Of

Albinism 2

Albinism, Oculocutaneous, Type 2

Oculocutaneous Albinism Tyrosinase Positive

Oculocutaneous Albinism, Tyrosinase Positive

Albinism, Oculocutaneous, 2

Boca

Oca-2

Oculocutaneous Albinism Tyrosinase-Positive

Retinitis Pigmentosa 30

RP30

Retinitis Pigmentosa-30

Retinitis Pigmentosa, Type 30

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Iris Disease

Iris Diseases

Congenital Syphilis

Syphilis, Congenital

Congenital Syphilis, Unspecified

Mtct Of Syphilis

Mother-To-Child Transmission Of Syphilis

Syphilis Congenital

Hereditary Syphilis

Heredosyphilis

Ocular Albinism

Albinism, Ocular

Oa

Xloa

Albinism Ocular

Retinitis Pigmentosa 38

RP38

Rod-Cone Dystrophy, Childhood-Onset

Retinitis Pigmentosa, Type 38

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Color Blindness

Color Vision Defect

Blindness Color

Colour Blindness

Colour Vision Deficiency

Color Vision Deficiency

Color Vision Defects

Defective Color Vision

Vision Defect, Color

Color-Vision Disease

Dyschromatopsia

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity

Retrolental Fibroplasia

EVR1

Criswick-Schepens Syndrome

Rop

Exudative Vitreoretinopathy, Familial, Autosomal Dominant

Fevr, Autosomal Dominant

Premature Retinopathy

Vitreoretinopathy, Exudative 1

Autosomal Dominant Familial Exudative Vitreoretinopathy

Fevr

Vitreoretinopathy, Exudative, Type 1

Retinopathy Of Prematurity Nos

Rlf- [Retrolental Fibroplasia]

Rop - [Retinopathy Of Prematurity]

Terry Syndrome

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Bos taurus SLC38A8 VGNC VGNC:34855
Rattus norvegicus SLC38A8 RGD RGD:1560237
Mus musculus SLC38A8 MGD MGI:2685433
Canis familiaris SLC38A8 VGNC VGNC:46398
Macaca mulatta SLC38A8 VGNC VGNC:77587
Felis catus SLC38A8 VGNC VGNC:65351