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	84679
Gene name	Solute carrier family 9 member A7
Gene symbol	SLC9A7
Synonyms (NCBI Gene)	MRX108NHE-7NHE7SLC9A6
Chromosome	X
Chromosome location	Xp11.3\|Xp11.3
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 a

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1569507511	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017259	hsa-miR-335-5p	Microarray	18185580
MIRT670529	hsa-miR-4284	HITS-CLIP	23824327
MIRT670528	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670527	hsa-miR-3180	HITS-CLIP	23824327
MIRT670526	hsa-miR-3180-3p	HITS-CLIP	23824327
MIRT670525	hsa-miR-3196	HITS-CLIP	23824327
MIRT670524	hsa-miR-6816-5p	HITS-CLIP	23824327
MIRT670523	hsa-miR-7977	HITS-CLIP	23824327
MIRT670522	hsa-miR-4435	HITS-CLIP	23824327
MIRT546452	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT546451	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT546450	hsa-miR-548m	PAR-CLIP	21572407
MIRT546449	hsa-miR-4703-3p	PAR-CLIP	21572407
MIRT534164	hsa-miR-562	PAR-CLIP	22012620
MIRT534163	hsa-miR-4438	PAR-CLIP	22012620
MIRT534162	hsa-miR-455-5p	PAR-CLIP	22012620
MIRT534161	hsa-miR-5697	PAR-CLIP	22012620
MIRT534160	hsa-miR-6814-5p	PAR-CLIP	22012620
MIRT534159	hsa-miR-1227-3p	PAR-CLIP	22012620
MIRT534158	hsa-miR-5095	PAR-CLIP	22012620
MIRT534157	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT458250	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT458249	hsa-miR-1273g-3p	PAR-CLIP	23592263
MIRT458248	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT458247	hsa-miR-1292-3p	PAR-CLIP	23592263
MIRT458246	hsa-miR-766-3p	PAR-CLIP	23592263
MIRT458245	hsa-miR-4793-3p	PAR-CLIP	23592263
MIRT458244	hsa-miR-4252	PAR-CLIP	23592263
MIRT458243	hsa-miR-661	PAR-CLIP	23592263
MIRT458242	hsa-miR-6512-3p	PAR-CLIP	23592263
MIRT458241	hsa-miR-6720-5p	PAR-CLIP	23592263
MIRT458240	hsa-miR-7703	PAR-CLIP	23592263
MIRT458239	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT458247	hsa-miR-1292-3p	PAR-CLIP	26701625
MIRT458244	hsa-miR-4252	PAR-CLIP	26701625
MIRT458239	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT458239	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT458239	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT458239	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT458239	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT670529	hsa-miR-4284	HITS-CLIP	23824327
MIRT670528	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670527	hsa-miR-3180	HITS-CLIP	23824327
MIRT670526	hsa-miR-3180-3p	HITS-CLIP	23824327
MIRT670525	hsa-miR-3196	HITS-CLIP	23824327
MIRT670524	hsa-miR-6816-5p	HITS-CLIP	23824327
MIRT670523	hsa-miR-7977	HITS-CLIP	23824327
MIRT670522	hsa-miR-4435	HITS-CLIP	23824327
MIRT546452	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT546451	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT546450	hsa-miR-548m	PAR-CLIP	21572407
MIRT546449	hsa-miR-4703-3p	PAR-CLIP	21572407
MIRT534164	hsa-miR-562	PAR-CLIP	22012620
MIRT534163	hsa-miR-4438	PAR-CLIP	22012620
MIRT534162	hsa-miR-455-5p	PAR-CLIP	22012620
MIRT534161	hsa-miR-5697	PAR-CLIP	22012620
MIRT534160	hsa-miR-6814-5p	PAR-CLIP	22012620
MIRT534159	hsa-miR-1227-3p	PAR-CLIP	22012620
MIRT534158	hsa-miR-5095	PAR-CLIP	22012620
MIRT534157	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT458250	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT458249	hsa-miR-1273g-3p	PAR-CLIP	23592263
MIRT458248	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT458247	hsa-miR-1292-3p	PAR-CLIP	23592263
MIRT458246	hsa-miR-766-3p	PAR-CLIP	23592263
MIRT458245	hsa-miR-4793-3p	PAR-CLIP	23592263
MIRT458244	hsa-miR-4252	PAR-CLIP	23592263
MIRT458243	hsa-miR-661	PAR-CLIP	23592263
MIRT458242	hsa-miR-6512-3p	PAR-CLIP	23592263
MIRT458241	hsa-miR-6720-5p	PAR-CLIP	23592263
MIRT458240	hsa-miR-7703	PAR-CLIP	23592263
MIRT458239	hsa-miR-455-3p	PAR-CLIP	23592263

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	15840657
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	11279194, 20364249, 30335141
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	30335141
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:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006885	Process	Regulation of pH	IDA	11279194
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	IDA	11279194
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	IDA	11279194
GO:0016020	Component	Membrane	IDA	11279194
GO:0016020	Component	Membrane	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0055037	Component	Recycling endosome	IBA
GO:0055038	Component	Recycling endosome membrane	IDA	15840657
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0098719	Process	Sodium ion import across plasma membrane	IBA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1905526	Process	Regulation of Golgi lumen acidification	IMP	30335141

MIM	HGNC	e!Ensembl
300368	17123	ENSG00000065923

Q96T83

Protein name

Sodium/hydrogen exchanger 7 (Na(+)/H(+) exchanger 7) (NHE-7) (Solute carrier family 9 member 7)

Protein function

Golgi Na(+), K(+)/(H+) antiporter. Mediates the electoneutral influx of Na(+) or K(+) in exchange for H(+). May contribute to the regulation of Golgi apparatus volume and pH.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00999	Na_H_Exchanger	77 → 534	Sodium/hydrogen exchanger family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11279194}.

Sequence

MEPGDAARPGSGRATGAPPPRLLLLPLLLGWGLRVAAAASASSSGAAAEDSSAMEELATE
KEAEESHRQDSVSLLTFILLLTLTILTIWLFKHRRVRFLHETGLAMIYGLIVGVILRYGT
PATSGRDKSLSCTQEDRAFSTLLVNVSGKFFEYTLKGEISPGKINSVEQNDMLRKVTFDP
EVFFNILLPPIIFHAGYSLKKRHFFRNLGSILAYAFLGTAVSCFIIGNLMYGVVKLMKIM
GQLSDKFYYTDCLFFGAIISATDPVTVLAIFNELHADVDLYALLFGESVLNDAVAIVLSS
SIVAYQPAGLNTHAFDAAAFFKSVGIFLGIFSGSFTMGAVTGVNANVTKFTKLHCFPLLE
TALFFLMSWSTFLLAEACGFTGVVAVLFCGITQAHYTYNNLSVESRSRTKQLFEVLHFLA
ENFIFSYMGLALFTFQKHVFSPIFIIGAFVAIFLGRAAHIYPLSFFLNLGRRHKIGWNFQ
HMMMFSGLRGAMAFALAIRDTASYARQMMFTTTLLIVFFTVWIIGGGTTPMLSWLNIRVG
VEEPSEEDQNEHHWQYFRVGVDPDQDPPPNNDSFQVLQGDGPDSARGNRTKQESAWIFRL
WYSFDHNYLKPILTHSGPPLTTTLPAWCGLLARCLTSPQVYDNQEPLREEDSDFILTEGD
LTLTYGDSTVTANGSSSSHTASTSLEGSRRTKSSSEEVLERDLGMGDQKVSSRGTRLVFP
LEDNA

Sequence length

725

Interactions

View interactions

	KEGG		Reactome
	Cardiac muscle contraction		Sodium/Proton exchangers

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, X-linked 108	Likely pathogenic	rs1569507511	RCV000766217
SLC9A7-related neurodevelopmental disorder	Likely pathogenic	rs1569507511	RCV000754991

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs200840210	RCV005869714
Colon adenocarcinoma	Benign	rs200840210	RCV005869708
Colorectal cancer	Benign	rs200840210	RCV005869712
Gastric cancer	Benign	rs200840210	RCV005869713
Malignant lymphoma, large B-cell, diffuse	Benign	rs200840210	RCV005869711
Malignant tumor of esophagus	Benign	rs200840210	RCV005869709
Nonpapillary renal cell carcinoma	Benign	rs200840210	RCV005869710
See cases	Uncertain significance	rs143878309	RCV003128493
SLC9A7-related disorder	Benign; Likely benign	rs3208940, rs1056846, rs146610288, rs376682289	RCV003976202 RCV003984113 RCV003973520 RCV003921794
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs143878309, rs2519354760	RCV005927052 RCV005927704

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cystinuria Type A	Associate	28166740
Mental Retardation X Linked	Associate	36701310

SLC9A7 (solute carrier family 9 member A7)