SLC9A6 - solute carrier family 9 member A6 Gene

Also Known as MRSA; NHE6; MRXSCH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10479

About SLC9A6

Cytogenetic location: Xq26.3 Genomic coordinates (GRCh38): X:135,973,837-136,047,269 (from NCBI)

This gene has 22 transcripts (splice variants), 276 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 26.2), adrenal (RPKM 4.9) and 23 other tissues.

Summary

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

SLC9A6 Products (10)

mRNA	Protein	Name
NM_001042537.2	NP_001036002.1	sodium/hydrogen exchanger 6 isoform a precursor
NM_001177651.2	NP_001171122.1	sodium/hydrogen exchanger 6 isoform c
NM_001330652.2	NP_001317581.1	sodium/hydrogen exchanger 6 isoform d
NM_001379110.1	NP_001366039.1	sodium/hydrogen exchanger 6 isoform 5
NM_001400909.1	NP_001387838.1	sodium/hydrogen exchanger 6 isoform c
NM_001400910.1	NP_001387839.1	sodium/hydrogen exchanger 6 isoform c
NM_001400911.1	NP_001387840.1	sodium/hydrogen exchanger 6 isoform c
NM_001400912.1	NP_001387841.1	sodium/hydrogen exchanger 6 isoform c
NM_001400913.1	NP_001387842.1	sodium/hydrogen exchanger 6 isoform d
NM_006359.3	NP_006350.1	sodium/hydrogen exchanger 6 isoform b precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	32277048	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18057008	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within axon extension	IDA IDA: Inferred from direct assay	24035762	GOA
acts upstream of or within dendrite extension	IDA IDA: Inferred from direct assay	24035762	GOA
involved in establishment of cell polarity	IMP IMP: Inferred from mutant phenotype	20130086	GOA
acts upstream of or within neuron projection morphogenesis	IDA IDA: Inferred from direct assay	24035762	GOA
involved in regulation of intracellular pH	IDA IDA: Inferred from direct assay	28635961	GOA
involved in regulation of intracellular pH	IMP IMP: Inferred from mutant phenotype	30296617	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in early endosome membrane	IDA IDA: Inferred from direct assay	11940519	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	11641397	GOA
NOT located in mitochondrion	IDA IDA: Inferred from direct assay	11940519	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11940519	GOA
located in recycling endosome membrane	IDA IDA: Inferred from direct assay	11940519	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

SLC9A6 Protein Structure

Na_H_Exchanger

0
200
400
600
669 a.a.

Protein Preferred Names	Protein Names
sodium/hydrogen exchanger 6	Na(+)/H(+) exchanger 6

SLC9A6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810256	NHE-6 Antibody (YA9600)	WB, ELISA	human

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Mental Retardation, X-Linked, Syndromic, Christianson Type MRXSCH Angelman-Like Syndrome, X-Linked Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome Intellectual Developmental Disorder, X-Linked Syndromic, Christianson Type Mrxs-Christianson X-Linked Angelman-Like Syndrome Mental Retardation Microcephaly Epilepsy And Ataxia Syndrome
Christianson Syndrome	X-Linked Angelman-Like Syndrome X-Linked Intellectual Disability, South African Type X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome Mental Retardation, X-Linked Syndromic, Christianson Type Mrxsch Angelman-Like Syndrome X-Linked Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome Intellectual Disability X-Linked Syndromic Christianson Type Mrxs Christianson X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy Angelman-Like Syndrome, X-Linked Intellectual Deficit, X-Linked, South African Type Mental Retardation X-Linked, South African Type Mental Retardation, X-Linked, Syndromic, Christianson Type
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Enophthalmos
Choreatic Disease	Chorea Hereditary Chorea
Pectus Excavatum	Funnel Chest Congenital Pectus Excavatum
Scoliosis
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Deafness, Dystonia, And Cerebral Hypomyelination	Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome DDCH Cadds Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome Contiguous Abcd1 Dxs1357e Deletion Syndrome Zellweger-Like Contiguous Gene Deletion Syndrome Contiguous Abcd1/Dxs1375e Deletion Syndrome Deafness, Dystonia, Cerebral Hypomyelination Contiguous Abcd1-Dxs1375e Deletion Syndrome
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Mutism
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Syndromic Intellectual Disability
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Febrile Seizures, Familial, 3a GEFSP2 GEFS+2 Generalized Epilepsy With Febrile Seizures Plus 2 Gefs+, Type 2 Generalised Epilepsy With Febrile Seizures Plus 2 Generalised Epilepsy With Febrile Seizures Plus Type 2 Generalized Epilepsy With Febrile Seizures Plus Type 2 FEB3A Familial Febrile Convulsions 3 Gefs+ Type 2 Epilepsy, Generalized, With Febrile Seizures Plus, Type 2 Febrile Convulsions, Familial, 3a
Epilepsy With Generalized Tonic-Clonic Seizures	Tonic-Clonic Epilepsy Epileptic Seizures, Tonic-Clonic Grand Mal Epilepsy Epilepsy, Tonic-Clonic
Complex Partial Epilepsy	Epilepsy, Complex Partial Complex Partial Epileptic Seizure Epilepsy, Psychomotor Psychomotor Epilepsy
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Speech Disorder	Speech Disorders
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13345	SLC9A6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13346	SLC9A7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC9A6	RGD	RGD:1563582
Macaca mulatta	SLC9A6	VGNC	VGNC:77642
Canis familiaris	SLC9A6	VGNC	VGNC:46488
Mus musculus	SLC9A6	MGD	MGI:2443511
Bos taurus	SLC9A6	VGNC	VGNC:34945
Felis catus	SLC9A6	VGNC	VGNC:65437
Others	SLC9A6	NCBI