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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83959
Gene name	Solute carrier family 4 member 11
Gene symbol	SLC4A11
Synonyms (NCBI Gene)	BTR1CDPD1CHEDCHED2NABC1dJ794I6.2
Chromosome	20
Chromosome location	20p13
Summary	This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystroph

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909387	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909388	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, missense variant
rs121909389	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121909390	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained, non coding transcript variant, missense variant
rs121909391	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909392	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909393	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, missense variant
rs121909394	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909395	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121909396	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs141705330	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs267607064	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs267607065	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs267607066	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs748362724	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs757553189	G>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs797045107	TGGCGAAGC>G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869320617	GCAGACGGGCA>CCGGCCGGCC	Pathogenic	Intron variant, genic downstream transcript variant
rs869320720	CTTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869320721	GGCGAAGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869320722	CGTA>T	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs1363770105	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600561475	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1600592887	->T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1600618680	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments
MIRT1364874	hsa-miR-210	CLIP-seq
MIRT1364875	hsa-miR-338-3p	CLIP-seq
MIRT1364876	hsa-miR-4530	CLIP-seq
MIRT1364877	hsa-miR-4684-5p	CLIP-seq
MIRT2626667	hsa-miR-1228	CLIP-seq
MIRT2626668	hsa-miR-329	CLIP-seq
MIRT2626669	hsa-miR-362-3p	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005272	Function	Sodium channel activity	IDA	15525507
GO:0005372	Function	Water transmembrane transporter activity	IDA	23813972, 31273259
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	ISS	17715183
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	15525507
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0006833	Process	Water transport	IEA
GO:0012506	Component	Vesicle membrane	IEA
GO:0012506	Component	Vesicle membrane	ISS	17715183
GO:0015078	Function	Proton transmembrane transporter activity	IDA	27581649
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IDA	15525507
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IEA
GO:0015252	Function	Proton channel activity	IDA	15525507
GO:0015293	Function	Symporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015701	Process	Bicarbonate transport	IDA	15525507
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	17715183, 23813972
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	17715183
GO:0016323	Component	Basolateral plasma membrane	TAS	15525507
GO:0016324	Component	Apical plasma membrane	IDA	17715183
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IDA	15525507
GO:0034599	Process	Cellular response to oxidative stress	IMP	28642546
GO:0035445	Process	Borate transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042044	Process	Fluid transport	IEA
GO:0042044	Process	Fluid transport	ISS
GO:0046713	Process	Borate transport	IDA	15525507
GO:0046715	Function	Active borate transmembrane transporter activity	IDA	15525507
GO:0046983	Function	Protein dimerization activity	IDA	22072594
GO:0050801	Process	Monoatomic ion homeostasis	IBA
GO:0050801	Process	Monoatomic ion homeostasis	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	28642546
GO:0055085	Process	Transmembrane transport	IBA
GO:0071476	Process	Cellular hypotonic response	IDA	23813972, 31273259
GO:1902600	Process	Proton transmembrane transport	IDA	15525507
GO:2000739	Process	Regulation of mesenchymal stem cell differentiation	IEA
GO:2000739	Process	Regulation of mesenchymal stem cell differentiation	ISS

MIM	HGNC	e!Ensembl
610206	16438	ENSG00000088836

Q8NBS3

Protein name

Solute carrier family 4 member 11 (Sodium borate cotransporter 1) (NaBC1)

Protein function

Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PubMed:15525507

PDB

7X1G , 7X1H , 7X1I , 7X1J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00955	HCO3_cotransp	336 → 835	HCO3- transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes. {ECO:0000269|PubMed:11302728, ECO:0000269|PubMed:16767101}.; TISSUE SPECIFICITY: [I

Sequence

MSQVGGRGDRCTQEVQGLVHGAGDLSASLAENSPTMSQNGYFEDSSYYKCDTDDTFEARE
EILGDEAFDTANSSIVSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLKNF
KEEIRAHRDLDGFLAQASIVLNETATSLDNVLRTMLRRFARDPDNNEPNCNLDLLMAMLF
TDAGAPMRGKVHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQKRHVCISRLVRPQNW
GENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEEEFKEALVH
QRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDIARRFPLYPLD
FTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLL
YALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLWNSFFLALYAFFNLS
LVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLDDYHTKRTSSLVSLSGL
GASLNASLHTALNASFLASPTELPSATHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYL
HPCVREILSDCALPIAVLAFSLISSHGFREIEMSKFRYNPSESPFAMAQIQSLSLRAVSG
AMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHA
AYPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLLLLPVPLQWIP
KPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTAYPPTHYIRRVPQRKIHYFTGLQVLQL
LLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRIIEAKYLDVMDAEHRP

Sequence length

891

Interactions

View interactions

455

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital hereditary endothelial dystrophy of cornea	Likely pathogenic; Pathogenic	rs2122503902, rs1233324021, rs869320721, rs371909885, rs764217666, rs746532062, rs750656470, rs776659347, rs1568528185, rs121909387, rs121909388, rs121909389, rs121909390, rs869320720, rs121909391 View all (20 more)	RCV005038164 RCV002488197 RCV002488196 RCV005038194 RCV005025632 RCV005038379 RCV004720324 RCV005025544 RCV005025519 RCV005025589 RCV000001367 RCV000001368 RCV000001369 RCV000001370 RCV000001371 RCV000001372 RCV000001373 RCV000001374 RCV004546409 RCV005031379 RCV002490290 RCV002293386 RCV002293387 RCV005034608 RCV000190625 RCV003334449 RCV005030165 RCV005030171 RCV006249403 RCV004586406 RCV003992400 RCV005036226 RCV000825571 RCV005029644 RCV002497443 RCV005036469 RCV002484292 RCV001283819
Corneal dystrophy	Pathogenic; Likely pathogenic	rs121909389, rs869320721, rs766567944	RCV005859450 RCV006253445 RCV006254345
Corneal dystrophy, Fuchs endothelial, 4	Likely pathogenic; Pathogenic	rs2122503902, rs1233324021, rs869320721, rs371909885, rs764217666, rs750656470, rs776659347, rs1568528185, rs121909390, rs121909392, rs121909396, rs121909394, rs267607064, rs1600618680, rs766567944 View all (11 more)	RCV005038164 RCV002488197 RCV002488196 RCV005038194 RCV005025632 RCV005038379 RCV005025544 RCV005025519 RCV005025589 RCV005024986 RCV005031378 RCV005031379 RCV002490290 RCV000001383 RCV000001385 RCV005034608 RCV005025310 RCV005030165 RCV005030171 RCV005029477 RCV005036226 RCV005036233 RCV005029644 RCV002497443 RCV005036469 RCV002484292 RCV005029857
Corneal dystrophy-perceptive deafness syndrome	Likely pathogenic; Pathogenic	rs2122503902, rs1233324021, rs772916997, rs869320721, rs780346984, rs1311747266, rs371909885, rs764217666, rs757244518, rs1298347142, rs1335324642, rs2067871973, rs750656470, rs776659347, rs1568528185 View all (27 more)	RCV005038164 RCV002488197 RCV001779160 RCV005606824 RCV005038194 RCV001831379 RCV001542618 RCV005025632 RCV002307772 RCV004699633 RCV003120799 RCV005607040 RCV003155445 RCV005025544 RCV002509728 RCV005025589 RCV004799726 RCV001273531 RCV005031378 RCV000001375 RCV000001376 RCV000001377 RCV000001378 RCV000001379 RCV000001382 RCV002283404 RCV005034608 RCV005025310 RCV005608848 RCV003226864 RCV005030165 RCV005030171 RCV006249403 RCV001825591 RCV005036226 RCV001835982 RCV005029644 RCV001827376 RCV002497443 RCV005036469 RCV001828666 RCV001828876 RCV001834011 RCV005029857
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2514532541	RCV005930304
SLC4A11-related disorder	Likely pathogenic; Pathogenic	rs1377933433, rs772409032	RCV003401845 RCV003398991
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs759540763	RCV005913547

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Corneal Dystrophy, Recessive	Conflicting classifications of pathogenicity	rs368073003	RCV000318069
Posterior polymorphous corneal dystrophy 1	Conflicting classifications of pathogenicity	rs34224785	RCV000991066
Sarcoma	Uncertain significance	rs145115400	RCV005913847

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	31556319
Corneal Diseases	Associate	25394471, 27581649
Corneal Dystrophies Hereditary	Associate	11836359, 17220209, 20848555, 24351571, 31273259, 36902444
Corneal dystrophy and perceptive deafness	Associate	11836359, 17220209, 20848555, 24351571, 25394471, 27581649
Corneal Dystrophy Fuchs Endothelial 4	Associate	38252645
Corneal dystrophy Fuchs' endothelial 1	Associate	25394471
Corneal Dystrophy Posterior Polymorphous 1	Associate	26619383
Corneal Edema	Associate	38252645
Corneal Endothelial Cell Loss	Associate	27581649, 38252645
Corneal endothelial dystrophy type 2	Associate	16825429, 17220209, 17262014, 20848555, 21203343, 24351571, 25394471, 26286922, 26619383, 27581649, 27609159, 28642546, 31273259, 31323090, 36037197 View all (5 more)
Corneal Opacity	Associate	37787991
De Barsy syndrome	Associate	16825429
Deafness	Associate	11836359, 17220209
Endometrial Neoplasms	Associate	35163645
Eye Diseases	Associate	17262014
Fuchs' Endothelial Dystrophy	Associate	20144242, 20848555, 24348007, 24351571, 25394471, 25548511, 27121161, 27581649, 28642546, 31273259, 37788993
Genetic Diseases Inborn	Associate	26286922
Glaucoma	Associate	36833236
Glaucoma 3 Primary Congenital A	Associate	36833236
Glomerulonephritis Membranous	Associate	26619383
Hearing Loss	Associate	17220209, 24351571
Hearing Loss Sensorineural	Associate	24351571, 27581649, 39319907
Keratoconus	Associate	25394471
Lymphatic Metastasis	Stimulate	29091960
Mitochondrial Diseases	Associate	37787991
Neoplasms	Associate	35163645
Neoplastic Syndromes Hereditary	Associate	36833236
Nerve Degeneration	Associate	28642546
Nystagmus Pathologic	Associate	37787991
Ovarian Neoplasms	Stimulate	29091960
Ovarian Neoplasms	Associate	35163645
Peters anomaly	Associate	25182519
Vision Disorders	Associate	16825429, 38252645

SLC4A11 (solute carrier family 4 member 11)