SLC9A9 - solute carrier family 9 member A9 Gene

Also Known as NHE9; AUTS16

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	18057008	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in regulation of intracellular pH	IDA IDA: Inferred from direct assay	15522866	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
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

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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SLC9A9	Q8IVB4	ZDHHC17	Homo sapiens	Q8IUH5	Y2H Array	24705354
Intra	SLC9A9	Q8IVB4	ZDHHC17	Homo sapiens	Q8IUH5	Lumier	24705354

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13348	SLC9A9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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