Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	285195
Gene name	Solute carrier family 9 member A9
Gene symbol	SLC9A9
Synonyms (NCBI Gene)	AUTS16NHE9
Chromosome	3
Chromosome location	3q24
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121912597	G>A	Risk-factor	Stop gained, coding sequence variant, genic downstream transcript variant

213

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022577	hsa-miR-124-3p	Microarray	18668037
MIRT1369204	hsa-miR-1207-5p	CLIP-seq
MIRT1369205	hsa-miR-1285	CLIP-seq
MIRT1369206	hsa-miR-146b-3p	CLIP-seq
MIRT1369207	hsa-miR-1913	CLIP-seq
MIRT1369208	hsa-miR-3173-5p	CLIP-seq
MIRT1369209	hsa-miR-3187-5p	CLIP-seq
MIRT1369210	hsa-miR-3194-3p	CLIP-seq
MIRT1369211	hsa-miR-324-3p	CLIP-seq
MIRT1369212	hsa-miR-326	CLIP-seq
MIRT1369213	hsa-miR-330-5p	CLIP-seq
MIRT1369214	hsa-miR-378g	CLIP-seq
MIRT1369215	hsa-miR-4292	CLIP-seq
MIRT1369216	hsa-miR-4436b-3p	CLIP-seq
MIRT1369217	hsa-miR-4437	CLIP-seq
MIRT1369218	hsa-miR-4486	CLIP-seq
MIRT1369219	hsa-miR-4674	CLIP-seq
MIRT1369220	hsa-miR-4712-5p	CLIP-seq
MIRT1369221	hsa-miR-4761-3p	CLIP-seq
MIRT1369222	hsa-miR-4763-3p	CLIP-seq
MIRT1369223	hsa-miR-604	CLIP-seq
MIRT1369224	hsa-miR-612	CLIP-seq
MIRT1369225	hsa-miR-615-5p	CLIP-seq
MIRT1369226	hsa-miR-647	CLIP-seq
MIRT1369227	hsa-miR-760	CLIP-seq
MIRT1369228	hsa-miR-770-5p	CLIP-seq
MIRT1369229	hsa-miR-874	CLIP-seq
MIRT1369230	hsa-miR-942	CLIP-seq
MIRT1369205	hsa-miR-1285	CLIP-seq
MIRT2109660	hsa-miR-1290	CLIP-seq
MIRT1369206	hsa-miR-146b-3p	CLIP-seq
MIRT1369207	hsa-miR-1913	CLIP-seq
MIRT2109661	hsa-miR-3167	CLIP-seq
MIRT1369208	hsa-miR-3173-5p	CLIP-seq
MIRT1369209	hsa-miR-3187-5p	CLIP-seq
MIRT1369210	hsa-miR-3194-3p	CLIP-seq
MIRT1369211	hsa-miR-324-3p	CLIP-seq
MIRT1369212	hsa-miR-326	CLIP-seq
MIRT1369213	hsa-miR-330-5p	CLIP-seq
MIRT2109662	hsa-miR-335	CLIP-seq
MIRT1369214	hsa-miR-378g	CLIP-seq
MIRT1369215	hsa-miR-4292	CLIP-seq
MIRT1369217	hsa-miR-4437	CLIP-seq
MIRT1369218	hsa-miR-4486	CLIP-seq
MIRT1369219	hsa-miR-4674	CLIP-seq
MIRT2109663	hsa-miR-4698	CLIP-seq
MIRT2109664	hsa-miR-4782-5p	CLIP-seq
MIRT2109665	hsa-miR-498	CLIP-seq
MIRT1369224	hsa-miR-612	CLIP-seq
MIRT1369225	hsa-miR-615-5p	CLIP-seq
MIRT1369227	hsa-miR-760	CLIP-seq
MIRT1369229	hsa-miR-874	CLIP-seq
MIRT2109666	hsa-miR-876-5p	CLIP-seq
MIRT1369230	hsa-miR-942	CLIP-seq
MIRT2332908	hsa-miR-495	CLIP-seq
MIRT2394826	hsa-miR-1253	CLIP-seq
MIRT2394827	hsa-miR-3150a-3p	CLIP-seq
MIRT2394828	hsa-miR-3175	CLIP-seq
MIRT2394829	hsa-miR-3675-5p	CLIP-seq
MIRT2394830	hsa-miR-4434	CLIP-seq
MIRT2394831	hsa-miR-4516	CLIP-seq
MIRT2394832	hsa-miR-939	CLIP-seq
MIRT2627251	hsa-miR-1	CLIP-seq
MIRT1369204	hsa-miR-1207-5p	CLIP-seq
MIRT2627252	hsa-miR-124	CLIP-seq
MIRT2394826	hsa-miR-1253	CLIP-seq
MIRT2627253	hsa-miR-1257	CLIP-seq
MIRT2627254	hsa-miR-128	CLIP-seq
MIRT2627255	hsa-miR-1296	CLIP-seq
MIRT2627256	hsa-miR-1301	CLIP-seq
MIRT2627257	hsa-miR-140-3p	CLIP-seq
MIRT2627258	hsa-miR-153	CLIP-seq
MIRT2627259	hsa-miR-205	CLIP-seq
MIRT2627260	hsa-miR-206	CLIP-seq
MIRT2627261	hsa-miR-2116	CLIP-seq
MIRT2627262	hsa-miR-2909	CLIP-seq
MIRT2394827	hsa-miR-3150a-3p	CLIP-seq
MIRT2627263	hsa-miR-3162-3p	CLIP-seq
MIRT2394828	hsa-miR-3175	CLIP-seq
MIRT2627264	hsa-miR-323-3p	CLIP-seq
MIRT2627265	hsa-miR-330-3p	CLIP-seq
MIRT2627266	hsa-miR-3545-5p	CLIP-seq
MIRT2627267	hsa-miR-3613-3p	CLIP-seq
MIRT2627268	hsa-miR-3673	CLIP-seq
MIRT2394829	hsa-miR-3675-5p	CLIP-seq
MIRT2627269	hsa-miR-3938	CLIP-seq
MIRT2627270	hsa-miR-409-3p	CLIP-seq
MIRT2627271	hsa-miR-4269	CLIP-seq
MIRT2627272	hsa-miR-4273	CLIP-seq
MIRT2627273	hsa-miR-4286	CLIP-seq
MIRT2627274	hsa-miR-432	CLIP-seq
MIRT2627275	hsa-miR-4422	CLIP-seq
MIRT2394830	hsa-miR-4434	CLIP-seq
MIRT1369216	hsa-miR-4436b-3p	CLIP-seq
MIRT2627276	hsa-miR-4453	CLIP-seq
MIRT2627277	hsa-miR-4477b	CLIP-seq
MIRT2627278	hsa-miR-448	CLIP-seq
MIRT2627279	hsa-miR-4503	CLIP-seq
MIRT2627280	hsa-miR-4514	CLIP-seq
MIRT2394831	hsa-miR-4516	CLIP-seq
MIRT2627281	hsa-miR-4538	CLIP-seq
MIRT2627282	hsa-miR-4660	CLIP-seq
MIRT2627283	hsa-miR-4677-5p	CLIP-seq
MIRT2627284	hsa-miR-4681	CLIP-seq
MIRT2627285	hsa-miR-4692	CLIP-seq
MIRT1369220	hsa-miR-4712-5p	CLIP-seq
MIRT2627286	hsa-miR-4717-3p	CLIP-seq
MIRT2627287	hsa-miR-4742-5p	CLIP-seq
MIRT2627288	hsa-miR-4747-5p	CLIP-seq
MIRT2627289	hsa-miR-4753-5p	CLIP-seq
MIRT2627290	hsa-miR-4760-3p	CLIP-seq
MIRT1369221	hsa-miR-4761-3p	CLIP-seq
MIRT1369222	hsa-miR-4763-3p	CLIP-seq
MIRT2627291	hsa-miR-4790-3p	CLIP-seq
MIRT2627292	hsa-miR-490-3p	CLIP-seq
MIRT2332908	hsa-miR-495	CLIP-seq
MIRT2627293	hsa-miR-5047	CLIP-seq
MIRT2627294	hsa-miR-506	CLIP-seq
MIRT2627295	hsa-miR-545	CLIP-seq
MIRT2627296	hsa-miR-548ae	CLIP-seq
MIRT2627297	hsa-miR-548aj	CLIP-seq
MIRT2627298	hsa-miR-548am	CLIP-seq
MIRT2627299	hsa-miR-548an	CLIP-seq
MIRT2627300	hsa-miR-548x	CLIP-seq
MIRT2627301	hsa-miR-578	CLIP-seq
MIRT2627302	hsa-miR-579	CLIP-seq
MIRT1369223	hsa-miR-604	CLIP-seq
MIRT2627303	hsa-miR-613	CLIP-seq
MIRT2627304	hsa-miR-616	CLIP-seq
MIRT2627305	hsa-miR-626	CLIP-seq
MIRT1369226	hsa-miR-647	CLIP-seq
MIRT2627306	hsa-miR-664	CLIP-seq
MIRT1369228	hsa-miR-770-5p	CLIP-seq
MIRT2627307	hsa-miR-875-5p	CLIP-seq
MIRT2394832	hsa-miR-939	CLIP-seq
MIRT2627251	hsa-miR-1	CLIP-seq
MIRT1369204	hsa-miR-1207-5p	CLIP-seq
MIRT2627252	hsa-miR-124	CLIP-seq
MIRT2394826	hsa-miR-1253	CLIP-seq
MIRT2627253	hsa-miR-1257	CLIP-seq
MIRT2627254	hsa-miR-128	CLIP-seq
MIRT2627255	hsa-miR-1296	CLIP-seq
MIRT2627256	hsa-miR-1301	CLIP-seq
MIRT2627257	hsa-miR-140-3p	CLIP-seq
MIRT2627260	hsa-miR-206	CLIP-seq
MIRT2627261	hsa-miR-2116	CLIP-seq
MIRT2627262	hsa-miR-2909	CLIP-seq
MIRT2691319	hsa-miR-3144-5p	CLIP-seq
MIRT2394827	hsa-miR-3150a-3p	CLIP-seq
MIRT2627263	hsa-miR-3162-3p	CLIP-seq
MIRT2691320	hsa-miR-3174	CLIP-seq
MIRT2394828	hsa-miR-3175	CLIP-seq
MIRT2627264	hsa-miR-323-3p	CLIP-seq
MIRT2627265	hsa-miR-330-3p	CLIP-seq
MIRT2627266	hsa-miR-3545-5p	CLIP-seq
MIRT2627267	hsa-miR-3613-3p	CLIP-seq
MIRT2691321	hsa-miR-3649	CLIP-seq
MIRT2627268	hsa-miR-3673	CLIP-seq
MIRT2394829	hsa-miR-3675-5p	CLIP-seq
MIRT2691322	hsa-miR-370	CLIP-seq
MIRT2627269	hsa-miR-3938	CLIP-seq
MIRT2627270	hsa-miR-409-3p	CLIP-seq
MIRT2627271	hsa-miR-4269	CLIP-seq
MIRT2627272	hsa-miR-4273	CLIP-seq
MIRT2691323	hsa-miR-4276	CLIP-seq
MIRT2627273	hsa-miR-4286	CLIP-seq
MIRT2691324	hsa-miR-431	CLIP-seq
MIRT2627274	hsa-miR-432	CLIP-seq
MIRT2627275	hsa-miR-4422	CLIP-seq
MIRT2394830	hsa-miR-4434	CLIP-seq
MIRT1369216	hsa-miR-4436b-3p	CLIP-seq
MIRT2627276	hsa-miR-4453	CLIP-seq
MIRT2627277	hsa-miR-4477b	CLIP-seq
MIRT2627279	hsa-miR-4503	CLIP-seq
MIRT2627280	hsa-miR-4514	CLIP-seq
MIRT2394831	hsa-miR-4516	CLIP-seq
MIRT2627281	hsa-miR-4538	CLIP-seq
MIRT2627282	hsa-miR-4660	CLIP-seq
MIRT2627283	hsa-miR-4677-5p	CLIP-seq
MIRT2627284	hsa-miR-4681	CLIP-seq
MIRT2627285	hsa-miR-4692	CLIP-seq
MIRT1369220	hsa-miR-4712-5p	CLIP-seq
MIRT2627286	hsa-miR-4717-3p	CLIP-seq
MIRT2627287	hsa-miR-4742-5p	CLIP-seq
MIRT2627288	hsa-miR-4747-5p	CLIP-seq
MIRT2627289	hsa-miR-4753-5p	CLIP-seq
MIRT1369221	hsa-miR-4761-3p	CLIP-seq
MIRT1369222	hsa-miR-4763-3p	CLIP-seq
MIRT2627291	hsa-miR-4790-3p	CLIP-seq
MIRT2627292	hsa-miR-490-3p	CLIP-seq
MIRT2691325	hsa-miR-492	CLIP-seq
MIRT2332908	hsa-miR-495	CLIP-seq
MIRT2627293	hsa-miR-5047	CLIP-seq
MIRT2627294	hsa-miR-506	CLIP-seq
MIRT2627295	hsa-miR-545	CLIP-seq
MIRT2627296	hsa-miR-548ae	CLIP-seq
MIRT2627297	hsa-miR-548aj	CLIP-seq
MIRT2627298	hsa-miR-548am	CLIP-seq
MIRT2627299	hsa-miR-548an	CLIP-seq
MIRT2627300	hsa-miR-548x	CLIP-seq
MIRT2627301	hsa-miR-578	CLIP-seq
MIRT1369223	hsa-miR-604	CLIP-seq
MIRT2627303	hsa-miR-613	CLIP-seq
MIRT2627304	hsa-miR-616	CLIP-seq
MIRT2627305	hsa-miR-626	CLIP-seq
MIRT2691326	hsa-miR-627	CLIP-seq
MIRT2691327	hsa-miR-630	CLIP-seq
MIRT2691328	hsa-miR-643	CLIP-seq
MIRT1369226	hsa-miR-647	CLIP-seq
MIRT1369228	hsa-miR-770-5p	CLIP-seq
MIRT2627307	hsa-miR-875-5p	CLIP-seq
MIRT2691329	hsa-miR-924	CLIP-seq
MIRT2394832	hsa-miR-939	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18057008, 24705354
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	24065030
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006885	Process	Regulation of pH	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	IBA
GO:0015385	Function	Sodium:proton antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	TAS
GO:0015386	Function	Potassium:proton antiporter activity	IBA
GO:0015386	Function	Potassium:proton antiporter activity	IEA
GO:0015386	Function	Potassium:proton antiporter activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	TAS
GO:0032009	Component	Early phagosome	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0051453	Process	Regulation of intracellular pH	IDA	15522866, 24065030
GO:0051453	Process	Regulation of intracellular pH	IEA
GO:0055037	Component	Recycling endosome	IBA
GO:0055037	Component	Recycling endosome	IDA	15522866, 24065030
GO:0055038	Component	Recycling endosome membrane	IDA	15522866
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0090382	Process	Phagosome maturation	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	IBA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
608396	20653	ENSG00000181804

Q8IVB4

Protein name

Sodium/hydrogen exchanger 9 (Na(+)/H(+) exchanger 9) (NHE-9) (Solute carrier family 9 member 9)

Protein function

Endosomal Na(+), K(+)/H(+) antiporter. Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+) (Probable). By facilitating proton efflux, SLC9A9 counteracts the acidity generated by vacuolar (V)-ATPase, there

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00999	Na_H_Exchanger	28 → 486	Sodium/hydrogen exchanger family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in all tissues tested. Expressed at highest levels in heart and skeletal muscle, followed by placenta, kidney, and liver. Expressed in the brain, in the medulla and spinal cord. {ECO:0000269|PubMed:14569117, ECO:

Sequence

MERQSRVMSEKDEYQFQHQGAVELLVFNFLLILTILTIWLFKNHRFRFLHETGGAMVYGL
IMGLILRYATAPTDIESGTVYDCVKLTFSPSTLLVNITDQVYEYKYKREISQHNINPHQG
NAILEKMTFDPEIFFNVLLPPIIFHAGYSLKKRHFFQNLGSILTYAFLGTAISCIVIGLI
MYGFVKAMIHAGQLKNGDFHFTDCLFFGSLMSATDPVTVLAIFHELHVDPDLYTLLFGES
VLNDAVAIVLTYSISIYSPKENPNAFDAAAFFQSVGNFLGIFAGSFAMGSAYAIITALLT
KFTKLCEFPMLETGLFFLLSWSAFLSAEAAGLTGIVAVLFCGVTQAHYTYNNLSSDSKIR
TKQLFEFMNFLAENVIFCYMGLALFTFQNHIFNALFILGAFLAIFVARACNIYPLSFLLN
LGRKQKIPWNFQHMMMFSGLRGAIAFALAIRNTESQPKQMMFTTTLLLVFFTVWVFGGGT
TPMLTWLQIRVGVDLDENLKEDPSSQHQEANNLDKNMTKAESARLFRMWYSFDHKYLKPI
LTHSGPPLTTTLPEWCGPISRLLTSPQAYGEQLKEDDVECIVNQDELAINYQEQASSPCS
PPARLGLDQKASPQTPGKENIYEGDLGLGGYELKLEQTLGQSQLN

Sequence length

645

Interactions

View interactions

	Reactome
			Sodium/Proton exchangers Defective SLC9A9 causes autism 16 (AUTS16)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colorectal cancer	Pathogenic	rs1933531491	RCV001293845

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism, susceptibility to, 16	Uncertain significance; risk factor; Likely benign	rs368254745, rs121912597, rs2473763047, rs111291437, rs761372851, rs2035814212	RCV002254375 RCV000002459 RCV003142273 RCV002487110 RCV003327317 RCV001291679
SLC9A9-related disorder	Uncertain significance; Likely benign; Benign	rs866526285, rs143553548, rs2473079198, rs2473078924, rs747297478, rs148398960, rs145513972, rs548486307, rs75035051, rs148869886	RCV003396967 RCV003919053 RCV003397514 RCV003420966 RCV003908980 RCV003931748 RCV003936874 RCV003966818 RCV003905976 RCV003960507

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	18937294, 20032819, 20732626, 23527680
Auditory Perceptual Disorders	Associate	23527680
Autism Spectrum Disorder	Associate	23715297
Autistic Disorder	Associate	23715297
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	25835977
Disruptive Impulse Control and Conduct Disorders	Associate	20032819, 23527680
Esophageal Squamous Cell Carcinoma	Associate	18649358, 25835977
Glioblastoma	Associate	29268774
Leukemia Myeloid Acute	Associate	36781600
Neoplasms	Associate	29268774, 36781600
Neoplasms Squamous Cell	Associate	25835977
Neurologic Manifestations	Associate	23715297
Prostatic Neoplasms	Inhibit	25835977

SLC9A9 (solute carrier family 9 member A9)