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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	83959
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 4 member 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC4A11
Synonyms (NCBI Gene) Gene synonyms aliases	BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CHED
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p13
Summary Summary of gene provided in NCBI Entrez Gene.	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(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005272	Function	Sodium channel activity	IDA	15525507
GO:0005452	Function	Inorganic anion exchanger activity	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS	17715183
GO:0006814	Process	Sodium ion transport	IDA	15525507
GO:0012506	Component	Vesicle membrane	ISS	17715183
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IDA	15525507
GO:0015252	Function	Proton channel activity	IDA	15525507
GO:0015293	Function	Symporter activity	IEA
GO:0015301	Function	Anion:anion antiporter activity	IEA
GO:0015701	Process	Bicarbonate transport	IDA	15525507
GO:0016021	Component	Integral component of membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IDA	17715183
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	21873635
GO:0030003	Process	Cellular cation homeostasis	IDA	15525507
GO:0035445	Process	Borate transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane 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	Ion homeostasis	IBA	21873635
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:1902600	Process	Proton transmembrane transport	IDA	15525507

MIM	HGNC	e!Ensembl
610206	16438	ENSG00000088836

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Corneal dystrophy-perceptive deafness syndrome	Corneal dystrophy-perceptive deafness syndrome	rs121909388, rs121909390, rs869320721, rs869320722, rs121909393, rs121909396, rs121909394, rs121909395, rs757553189, rs1363770105, rs1191074716, rs1430176022
Corneal endothelial dystrophy	CORNEAL ENDOTHELIAL DYSTROPHY 2, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	rs267607064, rs1600618680, rs80358191, rs80358192, rs727504229	17220209, 21203343, 22072594, 18474783, 20185830, 16825429, 16767101, 19369245, 17397048, 24351571, 17679935, 20108384, 26286922, 18024964, 20848555, 25007886 View all (1 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Corneal Dystrophy	Fuchs' endothelial dystrophy	GenCC
Congenital Hereditary Endothelial Dystrophy	congenital hereditary endothelial dystrophy of cornea	GenCC
Corneal Endothelial Dystrophy	corneal dystrophy, Fuchs endothelial, 4	GenCC

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining
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)