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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83697
Gene name	Solute carrier family 4 member 9
Gene symbol	SLC4A9
Synonyms (NCBI Gene)	AE4
Chromosome	5
Chromosome location	5q31.3
Summary	The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 201

Show/Hide all (34)

miRTarBase ID	miRNA	Experiments
MIRT1365251	hsa-miR-125a-5p	CLIP-seq
MIRT1365252	hsa-miR-125b	CLIP-seq
MIRT1365253	hsa-miR-2115	CLIP-seq
MIRT1365254	hsa-miR-302a	CLIP-seq
MIRT1365255	hsa-miR-302b	CLIP-seq
MIRT1365256	hsa-miR-302c	CLIP-seq
MIRT1365257	hsa-miR-302d	CLIP-seq
MIRT1365258	hsa-miR-302e	CLIP-seq
MIRT1365259	hsa-miR-3074-5p	CLIP-seq
MIRT1365260	hsa-miR-3120-3p	CLIP-seq
MIRT1365261	hsa-miR-3124-3p	CLIP-seq
MIRT1365262	hsa-miR-3685	CLIP-seq
MIRT1365263	hsa-miR-372	CLIP-seq
MIRT1365264	hsa-miR-373	CLIP-seq
MIRT1365265	hsa-miR-384	CLIP-seq
MIRT1365266	hsa-miR-3977	CLIP-seq
MIRT1365267	hsa-miR-4252	CLIP-seq
MIRT1365268	hsa-miR-4319	CLIP-seq
MIRT1365269	hsa-miR-4327	CLIP-seq
MIRT1365270	hsa-miR-450b-5p	CLIP-seq
MIRT1365271	hsa-miR-4696	CLIP-seq
MIRT1365272	hsa-miR-4722-3p	CLIP-seq
MIRT1365273	hsa-miR-4732-3p	CLIP-seq
MIRT1365274	hsa-miR-516a-3p	CLIP-seq
MIRT1365275	hsa-miR-519a	CLIP-seq
MIRT1365276	hsa-miR-519b-3p	CLIP-seq
MIRT1365277	hsa-miR-519c-3p	CLIP-seq
MIRT1365278	hsa-miR-520a-3p	CLIP-seq
MIRT1365279	hsa-miR-520b	CLIP-seq
MIRT1365280	hsa-miR-520c-3p	CLIP-seq
MIRT1365281	hsa-miR-520d-3p	CLIP-seq
MIRT1365282	hsa-miR-520e	CLIP-seq
MIRT1365283	hsa-miR-545	CLIP-seq
MIRT1365284	hsa-miR-670	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence
GO:0005452	Function	Solute:inorganic anion antiporter activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	IEA
GO:0008510	Function	Sodium:bicarbonate symporter activity	IBA
GO:0008510	Function	Sodium:bicarbonate symporter activity	IEA
GO:0008510	Function	Sodium:bicarbonate symporter activity	ISS
GO:0008510	Function	Sodium:bicarbonate symporter activity	TAS
GO:0015297	Function	Antiporter activity	IEA
GO:0015698	Process	Inorganic anion transport	IEA
GO:0015701	Process	Bicarbonate transport	IBA
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0046541	Process	Saliva secretion	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0055085	Process	Transmembrane transport	IBA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0140892	Function	Sodium,bicarbonate:chloride antiporter activity	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	ISS
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
610207	11035	ENSG00000113073

Q96Q91

Protein name

Anion exchange protein 4 (AE 4) (Anion exchanger 4) (Sodium bicarbonate cotransporter 5) (Solute carrier family 4 member 9)

Protein function

Electroneutral Cl(-)/HCO3(-) antiporter that favors chloride ion entry and efflux of hydrogencarbonate and sodium ion across the basolateral membrane and may participate in salivary secretion (PubMed:27114614). Also mediates Cl(-)/HCO3(-) exchan

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07565	Band_3_cyto	108 → 204	Band 3 cytoplasmic domain	Domain
PF07565	Band_3_cyto	188 → 330	Band 3 cytoplasmic domain	Domain
PF00955	HCO3_cotransp	379 → 891	HCO3- transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Kidney specific. {ECO:0000269|PubMed:11305939, ECO:0000269|Ref.7}.

Sequence

MEMKLPGQEGFEASSAPRNIPSGELDSNPDPGTGPSPDGPSDTESKELGVPKDPLLFIQL
NELLGWPQALEWRETGSSSASLLLDMGEMPSITLSTHLHHRWVLFEEKLEVAAGRWSAPH
VPTLALPSLQKLRSLLAEGLVLLDCPAQSLLELVEQVTRVESLSPELRGQLQALLLQRPQ
HYNQTTGTRPCWGSTHPRKASDNEEAPLREQCQNPLRQKLPPGAEAGTVLAGELGFLAQP
LGAFVRLRNPVVLGSLTEVSLPSRFFCLLLGPCMLGKGYHEMGRAAAVLLSDPQFQWSVR
RASNLHDLLAALDAFLEEVTVLPPGRWDPTARIPPPKCLPSQHKRLPSQQREIRGPAVPR
LTSAEDRHRHGPHAHSPELQRTGRLFGGLIQDVRRKVPWYPSDFLDALHLQCFSAVLYIY
LATVTNAITFGGLLGDATDGAQGVLESFLGTAVAGAAFCLMAGQPLTILSSTGPVLVFER
LLFSFSRDYSLDYLPFRLWVGIWVATFCLVLVATEASVLVRYFTRFTEEGFCALISLIFI
YDAVGKMLNLTHTYPIQKPGSSAYGCLCQYPGPGGNESQWIRTRPKDRDDIVSMDLGLIN
ASLLPPPECTRQGGHPRGPGCHTVPDIAFFSLLLFLTSFFFAMALKCVKTSRFFPSVVRK
GLSDFSSVLAILLGCGLDAFLGLATPKLMVPREFKPTLPGRGWLVSPFGANPWWWSVAAA
LPALLLSILIFMDQQITAVILNRMEYRLQKGAGFHLDLFCVAVLMLLTSALGLPWYVSAT
VISLAHMDSLRRESRACAPGERPNFLGIREQRLTGLVVFILTGASIFLAPVLKFIPMPVL
YGIFLYMGVAALSSIQFTNRVKLLLMPAKHQPDLLLLRHVPLTRVHLFTAIQLACLGLLW
IIKSTPAAIIFPLMLLGLVGVRKALERVFSPQELLWLDELMPEEERSIPEKGLEPEHSFS
GSDSEDSELMYQPKAPEINISVN

Sequence length

983

Interactions

View interactions

	Reactome
			Bicarbonate transporters

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma of lung	Lung carcinoma	BEFREE	8062221	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16361567	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27197160	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16361567	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10699954, 16361567, 22047961, 22989420, 25504108	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC4A9 (solute carrier family 4 member 9)