SLC9A7 - solute carrier family 9 member A7 Gene

Homo sapiens

Also known as NHE7; NHE-7; MRX108; SLC9A6

Gene ID: 84679 | Gene type: protein coding

About SLC9A7

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:46,599,251-46,759,118 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 10 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 6.0), lymph node (RPKM 3.6) and 24 other tissues.

Summary

This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

SLC9A7 Products(2)

mRNA	Protein	Name
NM_001257291.2	NP_001244220.1	sodium/hydrogen exchanger 7 isoform 1 precursor
NM_032591.3	NP_115980.1	sodium/hydrogen exchanger 7 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables potassium:proton antiporter activity	IDA IDA: Inferred from direct assay	11279194	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15840657	GOA
enables sodium:proton antiporter activity	IDA IDA: Inferred from direct assay	11279194	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of Golgi lumen acidification	IMP IMP: Inferred from mutant phenotype	30335141	GOA
involved in regulation of pH	IDA IDA: Inferred from direct assay	11279194	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	11279194	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	30335141	GOA
located in recycling endosome membrane	IDA IDA: Inferred from direct assay	15840657	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	11279194	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

SLC9A7 Protein Structure

Na_H_Exchanger

0
200
400
600
725 a.a.

Protein Preferred Names

Protein Names

sodium/hydrogen exchanger 7

Na(+)/H(+) exchanger 7

SLC9A7 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SLC9A7	Q96T83	SCAMP2	Homo sapiens	O15127	Pull Down	15840657
Intra	SLC9A7	Q96T83	SCAMP2	Homo sapiens	O15127	Confocal	15840657
Intra	SLC9A7	Q96T83	SCAMP2	Homo sapiens	O15127	Anti Tag CoIP	15840657
Intra	SLC9A7	Q96T83	SCAMP2	Homo sapiens	O15127	Y2H	15840657

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 108

MRX108	X-Linked Intellectual Developmental Disorder 108
Mental Retardation, X-Linked 108	Mental Retardation, X-Linked, Type 108

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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

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

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

Brown-Vialetto-Van Laere Syndrome 1

BVVLS1	Pontobulbar Palsy With Deafness
Bulbar Palsy, Progressive, With Sensorineural Deafness	Rfvt2-Related Riboflavin Transporter Deficiency
Rtd2	Riboflavin Transporter Deficiency 2
Bulbar Palsy Progressive With Sensorineural Deafness	Riboflavin Transporter Deficiency Type 2
Brown-Vialetto-Van Laere Syndrome, Type 1	Brown-Vialetto-Van Laere Syndrome

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

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

Syndromic X-Linked Intellectual Disability

X-Linked 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

Developmental And Epileptic Encephalopathy 94

Epileptic Encephalopathy, Childhood-Onset	Eeoc
DEE94	Childhood Onset Epileptic Encephalopathy
Encephalopathy, Epileptic, Childhood-Onset

Syndromic Intellectual Disability

Landau-Kleffner Syndrome

Acquired Epileptic Aphasia	Lks
Acquired Aphasia With Convulsive Disorder	Acquired Epileptiform Aphasia
Landau Kleffner Syndrome	Childhood Epileptic Aphasia

Intellectual Developmental Disorder, Autosomal Dominant 41

MRD41	Autosomal Dominant Non-Syndromic Intellectual Disability 41
Mental Retardation, Autosomal Dominant 41	Autosomal Dominant Intellectual Developmental Disorder 41
Autosomal Dominant Mental Retardation 41	Mental Retardation, Autosomal Dominant, Type 41

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Bioactive Molecules (1)

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

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC9A7	VGNC	VGNC:65438
Rattus norvegicus	SLC9A7	RGD	RGD:1561385
Bos taurus	SLC9A7	VGNC	VGNC:54488
Canis familiaris	SLC9A7	VGNC	VGNC:46489
Macaca mulatta	SLC9A7	VGNC	VGNC:103867
Mus musculus	SLC9A7	MGD	MGI:2444530

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