SLC9A7 - solute carrier family 9 member A7 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84679

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

Na_H_Exchanger: Sodium/hydrogen exchanger family (79 - 534)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC9A7 Q96T83 SCAMP2 Homo sapiens O15127 15840657
Intra
SLC9A7 Q96T83 SCAMP2 Homo sapiens O15127 15840657
Intra
SLC9A7 Q96T83 SCAMP2 Homo sapiens O15127 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

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
Others SLC9A7 NCBI