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	57282
Gene name	Solute carrier family 4 member 10
Gene symbol	SLC4A10
Synonyms (NCBI Gene)	NBCn2NCBE
Chromosome	2
Chromosome location	2q24.2
Summary	This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein enc

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005129	hsa-miR-30a-5p	pSILAC	18668040
MIRT005129	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT1364834	hsa-miR-125a-5p	CLIP-seq
MIRT1364835	hsa-miR-125b	CLIP-seq
MIRT1364836	hsa-miR-186	CLIP-seq
MIRT1364837	hsa-miR-219-5p	CLIP-seq
MIRT1364838	hsa-miR-2355-3p	CLIP-seq
MIRT1364839	hsa-miR-3133	CLIP-seq
MIRT1364840	hsa-miR-339-5p	CLIP-seq
MIRT1364841	hsa-miR-3662	CLIP-seq
MIRT1364842	hsa-miR-376a	CLIP-seq
MIRT1364843	hsa-miR-376b	CLIP-seq
MIRT1364844	hsa-miR-377	CLIP-seq
MIRT1364845	hsa-miR-382	CLIP-seq
MIRT1364846	hsa-miR-3920	CLIP-seq
MIRT1364847	hsa-miR-4282	CLIP-seq
MIRT1364848	hsa-miR-4283	CLIP-seq
MIRT1364849	hsa-miR-4287	CLIP-seq
MIRT1364850	hsa-miR-4319	CLIP-seq
MIRT1364851	hsa-miR-4445	CLIP-seq
MIRT1364852	hsa-miR-4446-5p	CLIP-seq
MIRT1364853	hsa-miR-4448	CLIP-seq
MIRT1364854	hsa-miR-4452	CLIP-seq
MIRT1364855	hsa-miR-4469	CLIP-seq
MIRT1364856	hsa-miR-4503	CLIP-seq
MIRT1364857	hsa-miR-4685-3p	CLIP-seq
MIRT1364858	hsa-miR-4698	CLIP-seq
MIRT1364859	hsa-miR-4699-5p	CLIP-seq
MIRT1364860	hsa-miR-4709-3p	CLIP-seq
MIRT1364861	hsa-miR-4731-3p	CLIP-seq
MIRT1364862	hsa-miR-4732-3p	CLIP-seq
MIRT1364863	hsa-miR-4755-5p	CLIP-seq
MIRT1364864	hsa-miR-4764-3p	CLIP-seq
MIRT1364865	hsa-miR-4782-3p	CLIP-seq
MIRT1364866	hsa-miR-4801	CLIP-seq
MIRT1364867	hsa-miR-505	CLIP-seq
MIRT1364868	hsa-miR-508-3p	CLIP-seq
MIRT1364869	hsa-miR-590-3p	CLIP-seq
MIRT1364870	hsa-miR-618	CLIP-seq
MIRT1364871	hsa-miR-654-3p	CLIP-seq
MIRT1364872	hsa-miR-670	CLIP-seq
MIRT1364873	hsa-miR-676	CLIP-seq
MIRT2332076	hsa-miR-4477a	CLIP-seq
MIRT2626664	hsa-miR-3121-3p	CLIP-seq
MIRT1364845	hsa-miR-382	CLIP-seq
MIRT2626665	hsa-miR-4464	CLIP-seq
MIRT2626666	hsa-miR-4748	CLIP-seq

Show/Hide all (66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	IEA
GO:0005452	Function	Solute:inorganic anion antiporter activity	TAS
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:0006814	Process	Sodium ion transport	IEA
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0006821	Process	Chloride transport	NAS	10993873
GO:0006885	Process	Regulation of pH	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	IEA
GO:0008510	Function	Sodium:bicarbonate symporter activity	IBA
GO:0008510	Function	Sodium:bicarbonate symporter activity	IDA	18319254
GO:0008510	Function	Sodium:bicarbonate symporter activity	IEA
GO:0008510	Function	Sodium:bicarbonate symporter activity	ISS
GO:0009416	Process	Response to light stimulus	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IEA
GO:0015291	Function	Secondary active transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015701	Process	Bicarbonate transport	IBA
GO:0015701	Process	Bicarbonate transport	NAS	10993873
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10993873
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0021860	Process	Pyramidal neuron development	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030641	Process	Regulation of cellular pH	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0036477	Component	Somatodendritic compartment	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	IEA
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	ISS
GO:0048854	Process	Brain morphogenesis	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0055085	Process	Transmembrane transport	IBA
GO:0097440	Component	Apical dendrite	IEA
GO:0097441	Component	Basal dendrite	IEA
GO:0097442	Component	CA3 pyramidal cell dendrite	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	ISS
GO:0140892	Function	Sodium,bicarbonate:chloride antiporter activity	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
605556	13811	ENSG00000144290

Q6U841

Protein name

Sodium-driven chloride bicarbonate exchanger (Solute carrier family 4 member 10)

Protein function

Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH (PubMed:18319254). Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been sh

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07565	Band_3_cyto	146 → 435	Band 3 cytoplasmic domain	Domain
PF00955	HCO3_cotransp	476 → 989	HCO3- transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in the brain. {ECO:0000269|PubMed:18319254}.

Sequence

MEIKDQGAQMEPLLPTRNDEEAVVDRGGTRSILKTHFEKEDLEGHRTLFIGVHVPLGGRK
SHRRHRHRGHKHRKRDRERDSGLEDGRESPSFDTPSQRVQFILGTEDDDEEHIPHDLFTE
LDEICWREGEDAEWRETARWLKFEEDVEDGGERWSKPYVATLSLHSLFELRSCILNGTVL
LDMHANTLEEIADMVLDQQVSSGQLNEDVRHRVHEALMKQHHHQNQKKLTNRIPIVRSFA
DIGKKQSEPNSMDKNAGQVVSPQSAPACVENKNDVSRENSTVDFSKGLGGQQKGHTSPCG
MKQRHEKGPPHQQEREVDLHFMKKIPPGAEASNILVGELEFLDRTVVAFVRLSPAVLLQG
LAEVPIPTRFLFILLGPLGKGQQYHEIGRSIATLMTDEVFHDVAYKAKDRNDLVSGIDEF
LDQVTVLPPGEWDPSIRIEPPKNVPSQEKRKIPAVPNGTAAHGEAEPHGGHSGPELQRTG
RIFGGLILDIKRKAPYFWSDFRDAFSLQCLASFLFLYCACMSPVITFGGLLGEATEGRIS
AIESLFGASMTGIAYSLFGGQPLTILGSTGPVLVFEKILFKFCKEYGLSYLSLRASIGLW
TATLCIILVATDASSLVCYITRFTEEAFASLICIIFIYEALEKLFELSEAYPINMHNDLE
LLTQYSCNCVEPHNPSNGTLKEWRESNISASDIIWENLTVSECKSLHGEYVGRACGHDHP
YVPDVLFWSVILFFSTVTLSATLKQFKTSRYFPTKVRSIVSDFAVFLTILCMVLIDYAIG
IPSPKLQVPSVFKPTRDDRGWFVTPLGPNPWWTVIAAIIPALLCTILIFMDQQITAVIIN
RKEHKLKKGCGYHLDLLMVAVMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGEQ
PKFLGIREQRVTGLMIFILMGSSVFMTSILKFIPMPVLYGVFLYMGASSLKGIQFFDRIK
LFWMPAKHQPDFIYLRHVPLRKVHLFTIIQMSCLGLLWIIKVSRAAIVFPMMVLALVFVR
KLMDLLFTKRELSWLDDLMPESKKKKLEDAEKEEEQSMLAMEDEGTVQLPLEGHYRDDPS
VINISDEMSKTALWRNLLITADNSKDKESSFPSKSSPS

Sequence length

1118

Interactions

View interactions

	Reactome
			Bicarbonate transporters

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	Likely pathogenic; Pathogenic	rs1694347562, rs2468188834, rs1445215746, rs2470019177, rs2468189413, rs2470273914, rs370148354, rs1694065388, rs1223068536	RCV003888329 RCV003888330 RCV003888331 RCV003889361 RCV003889363 RCV003889364 RCV003889365 RCV003889366 RCV003889367
SLC4A10-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1694347562, rs2468188834, rs1445215746	RCV002281192 RCV002281193 RCV002281194

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs2470635695, rs2468312940	-
SLC4A10-related disorder	Likely benign; Uncertain significance; Benign	rs373234260, rs2469169036, rs2469502942, rs1458349611, rs2470634489, rs16846051, rs181577709, rs142943771	RCV003975847 RCV003422506 RCV003397844 RCV003402899 RCV003961664 RCV003919519 RCV003954487 RCV003979929

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atherosclerosis	Associate	37881939
Cardiovascular Diseases	Associate	37881939
Cerebrovascular Disorders	Associate	37881939
Epilepsy	Associate	21204806
Epilepsy Idiopathic Generalized	Associate	36374051
Neurocognitive Disorders	Associate	27862604

SLC4A10 (solute carrier family 4 member 10)