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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8671
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 4 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC4A4
Synonyms (NCBI Gene) Gene synonyms aliases	HNBC1, KNBC, NBC1, NBC2, NBCe1, NBCe1-A, PRTAO, SLC4A5, hhNMC, kNBC1, pNBC
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PRTAO
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants en

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72650362	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908856	A>C	Pathogenic	Missense variant, coding sequence variant
rs121908857	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908858	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, intron variant
rs786205569	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553913019	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679022	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT679021	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679022	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT679021	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT1364926	hsa-miR-1231	CLIP-seq
MIRT1364927	hsa-miR-142-5p	CLIP-seq
MIRT1364928	hsa-miR-2116	CLIP-seq
MIRT1364929	hsa-miR-3120-5p	CLIP-seq
MIRT1364930	hsa-miR-3664-5p	CLIP-seq
MIRT1364931	hsa-miR-3689d	CLIP-seq
MIRT1364932	hsa-miR-375	CLIP-seq
MIRT1364933	hsa-miR-4273	CLIP-seq
MIRT1364934	hsa-miR-4464	CLIP-seq
MIRT1364935	hsa-miR-4522	CLIP-seq
MIRT1364936	hsa-miR-4658	CLIP-seq
MIRT1364937	hsa-miR-4677-5p	CLIP-seq
MIRT1364938	hsa-miR-4748	CLIP-seq
MIRT1364939	hsa-miR-4758-5p	CLIP-seq
MIRT1364940	hsa-miR-4761-5p	CLIP-seq
MIRT1364941	hsa-miR-4765	CLIP-seq
MIRT1364942	hsa-miR-516b	CLIP-seq
MIRT1364943	hsa-miR-526b	CLIP-seq
MIRT1364944	hsa-miR-542-3p	CLIP-seq
MIRT1364945	hsa-miR-561	CLIP-seq
MIRT1364946	hsa-miR-659	CLIP-seq
MIRT1364930	hsa-miR-3664-5p	CLIP-seq
MIRT1364931	hsa-miR-3689d	CLIP-seq
MIRT1364934	hsa-miR-4464	CLIP-seq
MIRT2108316	hsa-miR-4731-3p	CLIP-seq
MIRT1364938	hsa-miR-4748	CLIP-seq
MIRT2108317	hsa-miR-4801	CLIP-seq
MIRT2108318	hsa-miR-548a-5p	CLIP-seq
MIRT2108319	hsa-miR-548ab	CLIP-seq
MIRT2108320	hsa-miR-548ak	CLIP-seq
MIRT2108321	hsa-miR-548b-5p	CLIP-seq
MIRT2108322	hsa-miR-548c-5p	CLIP-seq
MIRT2108323	hsa-miR-548d-5p	CLIP-seq
MIRT2108324	hsa-miR-548h	CLIP-seq
MIRT2108325	hsa-miR-548i	CLIP-seq
MIRT2108326	hsa-miR-548j	CLIP-seq
MIRT2108327	hsa-miR-548w	CLIP-seq
MIRT2108328	hsa-miR-548y	CLIP-seq
MIRT2108329	hsa-miR-559	CLIP-seq
MIRT2108330	hsa-miR-579	CLIP-seq
MIRT2108331	hsa-miR-664	CLIP-seq
MIRT2332081	hsa-miR-145	CLIP-seq
MIRT2332082	hsa-miR-224	CLIP-seq
MIRT2332083	hsa-miR-3611	CLIP-seq
MIRT2332084	hsa-miR-4639-3p	CLIP-seq
MIRT2332085	hsa-miR-4786-3p	CLIP-seq
MIRT2332086	hsa-miR-548n	CLIP-seq
MIRT2332087	hsa-miR-548t	CLIP-seq
MIRT1364945	hsa-miR-561	CLIP-seq
MIRT2332088	hsa-miR-587	CLIP-seq
MIRT2332083	hsa-miR-3611	CLIP-seq
MIRT2626670	hsa-miR-378g	CLIP-seq
MIRT2626671	hsa-miR-383	CLIP-seq
MIRT2626672	hsa-miR-4252	CLIP-seq
MIRT2626673	hsa-miR-433	CLIP-seq
MIRT2626674	hsa-miR-4709-3p	CLIP-seq
MIRT2626675	hsa-miR-4772-5p	CLIP-seq
MIRT1364945	hsa-miR-561	CLIP-seq
MIRT2691267	hsa-miR-127-5p	CLIP-seq
MIRT2691268	hsa-miR-3155	CLIP-seq
MIRT2691269	hsa-miR-3155b	CLIP-seq
MIRT2691270	hsa-miR-484	CLIP-seq

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Inorganic anion exchanger activity	IEA
GO:0005515	Function	Protein binding	IPI	15563508, 16769890
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	10069984, 16636648, 29500354
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	9235899
GO:0006814	Process	Sodium ion transport	IDA	16769890
GO:0008510	Function	Sodium:bicarbonate symporter activity	IBA	21873635
GO:0008510	Function	Sodium:bicarbonate symporter activity	IMP	16636648, 17661077
GO:0008510	Function	Sodium:bicarbonate symporter activity	TAS	21976511
GO:0009986	Component	Cell surface	IDA	29500354
GO:0015293	Function	Symporter activity	IMP	29500354
GO:0015698	Process	Inorganic anion transport	IEA
GO:0015701	Process	Bicarbonate transport	IBA	21873635
GO:0015701	Process	Bicarbonate transport	IDA	10069984
GO:0015701	Process	Bicarbonate transport	IMP	16636648
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IDA	10069984, 27717805
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IDA	12907161, 15273250, 17182531, 17661077
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0035725	Process	Sodium ion transmembrane transport	IDA	10069984
GO:0036376	Process	Sodium ion export across plasma membrane	IMP	16636648
GO:0042391	Process	Regulation of membrane potential	IDA	10069984, 15273250
GO:0042391	Process	Regulation of membrane potential	ISS	21976511
GO:0042802	Function	Identical protein binding	IPI	29500354
GO:0044214	Component	Spanning component of plasma membrane	RCA	29500354
GO:0045821	Process	Positive regulation of glycolytic process	IGI	21976511
GO:0045821	Process	Positive regulation of glycolytic process	ISS	21976511
GO:0050801	Process	Ion homeostasis	IBA	21873635
GO:0051453	Process	Regulation of intracellular pH	IBA	21873635
GO:0051453	Process	Regulation of intracellular pH	IDA	10069984
GO:0051453	Process	Regulation of intracellular pH	IGI	21976511
GO:0051453	Process	Regulation of intracellular pH	IMP	24453308
GO:0051453	Process	Regulation of intracellular pH	ISS	21976511
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	IMP	29500354
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098656	Process	Anion transmembrane transport	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653

MIM	HGNC	e!Ensembl
603345	11030	ENSG00000080493

Protein

UniProt ID

Q9Y6R1

Protein name

Electrogenic sodium bicarbonate cotransporter 1 (Sodium bicarbonate cotransporter) (Na(+)/HCO3(-) cotransporter) (Solute carrier family 4 member 4) (kNBC1)

Protein function

Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. {ECO:0000269|PubMed:10069984, EC

PDB

6CAA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07565	Band_3_cyto	137 → 388	Band 3 cytoplasmic domain	Domain
PF00955	HCO3_cotransp	436 → 956	HCO3- transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in the corneal endothelium cells (at protein level). Expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal cord

Sequence

MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERI
SENYSDKSDIENADESSSSILKPLISPAAERIRFILGEEDDSPAPPQLFTELDELLAVDG
QEMEWKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLP
QLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKKSNLRSLADIGKTVSSASRMFTN
PDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFI
AFVRLQQAVMLGALTEVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKA
KDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTP
HDGGHGGGGHGDCEELQRTGRFCGGLIKDIKRKAPFFASDFYDALNIQALSAILFIYLAT
VTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTILSSTGPVLVFERLLF
NFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDA
FKKMIKLADYYPINSNFKVGYNTLFSCTCVPPDPANISISNDTTLAPEYLPTMSSTDMYH
NTTFDWAFLSKKECSKYGGNLVGNNCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFP
TTARKLISDFAIILSILIFCVIDALVGVDTPKLIVPSEFKPTSPNRGWFVPPFGENPWWV
CLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPW
YVAATVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTGTLVFILTGLSVFMAPILKFI
PMPVLYGVFLYMGVASLNGVQFMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLC
LALLWILKSTVAAIIFPVMILALVAVRKGMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKK
KKKKGSLDSDNDDSDCPYSEKVPSIKIPMDIMEQQPFLSDSKPSDRERSPTFLERHTSC

Sequence length

1079

Interactions

View interactions

	KEGG		Reactome
	Proximal tubule bicarbonate reclamation Pancreatic secretion Bile secretion		Bicarbonate transporters Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract, Pseudoaphakia	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)	18614622
Corneal dystrophy	Corneal Dystrophy, Band-Shaped	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Distal renal tubular acidosis	Distal Renal Tubular Acidosis	rs121964880, rs769664228, rs121912744, rs121912745, rs121912746, rs121912748, rs121912751, rs878853002, rs781838938, rs782152033, rs1443883930	18614622
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)	18614622
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	27602772
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Proximal renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis	rs121908856, rs121908857, rs121908858, rs1553913019
Renal tubular acidosis	Renal Tubular Acidosis, Type II	rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968 View all (5 more)	18614622

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	References	Source
Unknown
Asthma	Childhood asthma		23829686	ClinVar
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Oligodendroglioma	Oligodendroglioma			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidosis Renal Tubular	Associate	18614622, 20197274, 23362273, 23636456, 23832211, 24121512, 25743102, 29914390, 39869206
Adenoma	Associate	32566650
Carcinoma Pancreatic Ductal	Associate	35247929
Carcinoma Renal Cell	Associate	30668544
Cataract	Associate	23832211, 29914390
Colitis Ulcerative	Associate	32566650, 37843347
Colonic Neoplasms	Inhibit	32949121
Colorectal Neoplasms	Associate	31612869, 32323816, 32566650, 36618366
Colorectal Neoplasms	Inhibit	36468451
Corneal Dystrophy Band Shaped	Associate	29914390, 38098057
Developmental Disabilities	Associate	29914390
Exocrine Pancreatic Insufficiency	Associate	39869206
Eye Abnormalities	Associate	39869206
Eye Diseases	Associate	23832211
Fetal Diseases	Associate	36585686
Genetic Diseases Inborn	Associate	38098057
Glaucoma	Associate	29914390
Growth Disorders	Associate	23636456
Hypertension	Associate	22479346
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	28754144
Hypoxia	Stimulate	35150959
Immunologic Deficiency Syndromes	Associate	29914390
Intellectual Disability	Associate	28754144, 29914390
Kidney Cortex Necrosis	Associate	29914390
Kidney Neoplasms	Associate	30668544
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	23651669
Muscle Hypotonia	Associate	23636456
Neoplasm Metastasis	Associate	30668544, 32949121
Neoplasms	Associate	32566650, 32949121
Nystagmus Pathologic	Associate	25743102
Panic Disorder	Associate	26283638
Prostatic Neoplasms	Associate	33283584
Tertiary Lymphoid Structures	Associate	32949121
Thyroid Cancer Papillary	Associate	21179278
Tooth Abnormalities	Associate	23636456
Turner Syndrome	Associate	29914390

SLC4A4 (solute carrier family 4 member 4)