SLC9A9 - solute carrier family 9 member A9 Gene
Also Known as NHE9; AUTS16
Species: Homo sapiens
About SLC9A9
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 |
SLC9A9 Protein Structure
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 |
|
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 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Autism 16 |
|
|
| Colorectal Cancer |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Autism |
|
|
| Christianson Syndrome |
|
|
| Pervasive Developmental Disorder |
|
|
| Brown-Vialetto-Van Laere Syndrome 1 |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
|
| Lichtenstein-Knorr Syndrome |
|
|
| Syndromic X-Linked Intellectual Disability |
|
|
| Dystonia 11, Myoclonic |
|
|
| Syndromic Intellectual Disability |
|
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 |