SLC38A8 - solute carrier family 38 member 8 Gene

Also Known as FVH2; SNAT8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 146167

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

0
100
200
300
400
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13226	SLC38A8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	SLC38A8	NCBI