SLC4A10 (solute carrier family 4 member 10)

Gene

• Entrez ID: 57282
• Gene name: Solute carrier family 4 member 10
• Gene symbol: SLC4A10
• Synonyms (NCBI Gene): NBCn2, NCBE
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 605556
• HGNC: 13811
• e!Ensembl: ENSG00000144290

Protein

• UniProt ID: 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

Pathways

Reactome:

Bicarbonate transporters

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC4A10-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1694347562, rs2468188834, rs1445215746	RCV002281192 RCV002281193 RCV002281194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FRONTAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER-SLIT-LIKE LATERAL VENTRICLES-INTELLECTUAL DISABILITY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC4A10-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atherosclerosis	Atherosclerosis	Pubtator	37881939	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	27890468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	18165320		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	27890468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37881939	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	37881939	Associate	★☆☆☆☆ Found in Text Mining only
Chronic metabolic acidosis	Metabolic Acidosis	BEFREE	21195699		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	18413482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	21630437		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	18165320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	18413482, 21204806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	21204806	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36374051	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Anterior Fronto-Polar	Epilepsy	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Epilepsy, Cingulate	Epilepsy	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Epilepsy, Complex Partial	Epilepsy	BEFREE	18413482		★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	18165320		★☆☆☆☆ Found in Text Mining only
Epilepsy, Frontal Lobe	Epilepsy	CTD_human_DG	18413482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Opercular	Epilepsy	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Epilepsy, Orbito-Frontal	Epilepsy	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Epilepsy, Supplementary Motor	Epilepsy	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Frontal Epilepsy, Benign, Childhood	Epilepsy	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	27862604		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	20101282		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29386206		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18413482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	18413482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	21630437		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18413482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Profound Mental Retardation	Mental retardation	CTD_human_DG	18413482		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29136250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	29483656, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX males	XX Males	BEFREE	27862604		★☆☆☆☆ Found in Text Mining only