SLC9A9 - solute carrier family 9 member A9 Gene

Also Known as NHE9; AUTS16

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 285195

About SLC9A9

Cytogenetic location: 3q24 Genomic coordinates (GRCh38): 3:143,265,222-143,848,468 (from NCBI)

This gene has 5 transcripts (splice variants), 175 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 3.2), esophagus (RPKM 3.0) and 24 other tissues.

Summary

This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]

SLC9A9 Products (1)

mRNA Protein Name
NM_173653.4 NP_775924.1 sodium/hydrogen exchanger 9
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
18057008 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of intracellular pH IDA
IDA: Inferred from direct assay
15522866 GOA
Cellular Component GO Annotation Evidence References Source
located in early endosome IDA
IDA: Inferred from direct assay
24065030 GOA
located in recycling endosome IDA
IDA: Inferred from direct assay
15522866 GOA
located in recycling endosome membrane IDA
IDA: Inferred from direct assay
15522866 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

SLC9A9 Protein Structure

Na_H_Exchanger

Na_H_Exchanger: Sodium/hydrogen exchanger family (30 - 486)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 645 a.a.
Protein Preferred Names Protein Names

sodium/hydrogen exchanger 9

  • Na(+)/H(+) exchanger 9

SLC9A9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC9A9 Q8IVB4 ZDHHC17 Homo sapiens Q8IUH5 24705354
Intra
SLC9A9 Q8IVB4 ZDHHC17 Homo sapiens Q8IUH5 24705354
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Autism 16
  • Autism, Susceptibility To, 16

  • AUTS16

  • Autism With Or Without Seizures

  • Autism Susceptibility 16

  • Autism, Susceptibility To, Type 16

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

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

Pervasive Developmental Disorder
  • Pervasive Development Disorder

  • Pervasive Developmental Disorders

  • Pervasive Child Development Disorders

  • Autistic Behavior

  • Autism Spectrum Disorders

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

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

Lichtenstein-Knorr Syndrome
  • Scar19

  • LIKNS

  • Autosomal Recessive Spinocerebellar Ataxia 19

  • Spinocerebellar Ataxia, Autosomal Recessive 19

  • Progressive Autosomal Recessive Ataxia-Deafness Syndrome

  • Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive, 19

Syndromic X-Linked Intellectual Disability
  • X-Linked Syndromic Intellectual Disability

Dystonia 11, Myoclonic
  • Myoclonic Dystonia

  • Myoclonus-Dystonia Syndrome

  • DYT11

  • Myoclonic Dystonia 11

  • Alcohol-Responsive Dystonia

  • Myoclonus, Hereditary Essential

  • Dystonia-11, Myoclonic

  • Myoclonus-Dystonia

  • Dystonia 11

  • Hereditary Essential Myoclonus

  • Dystonia, Alcohol-Responsive

  • Dyt-Sgce

  • Dystonia, Alcohol Responsive

  • Dystonia-11

  • Dystonia, Myoclonic

  • Dystonia, Myoclonic, Type 11

Syndromic Intellectual Disability
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
Mus musculus SLC9A9 MGD MGI:2679732
Felis catus SLC9A9 VGNC VGNC:102845
Rattus norvegicus SLC9A9 RGD RGD:1560736
Macaca mulatta SLC9A9 VGNC VGNC:77747
Bos taurus SLC9A9 VGNC VGNC:34947
Canis familiaris SLC9A9 VGNC VGNC:46491
Others SLC9A9 NCBI