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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6522
Gene name	Solute carrier family 4 member 2
Gene symbol	SLC4A2
Synonyms (NCBI Gene)	AE2BND3LEPB3L1HKB3NBND3OPTB9
Chromosome	7
Chromosome location	7q36.1
Summary	This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary bil

210

Show/Hide all (210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051300	hsa-miR-16-5p	CLASH	23622248
MIRT049380	hsa-miR-92a-3p	CLASH	23622248
MIRT042083	hsa-miR-484	CLASH	23622248
MIRT042083	hsa-miR-484	CLASH	23622248
MIRT042083	hsa-miR-484	CLASH	23622248
MIRT040471	hsa-miR-615-3p	CLASH	23622248
MIRT037902	hsa-miR-455-3p	CLASH	23622248
MIRT037902	hsa-miR-455-3p	CLASH	23622248
MIRT713026	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT713025	hsa-miR-4418	HITS-CLIP	19536157
MIRT713024	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT713023	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT713022	hsa-miR-217	HITS-CLIP	19536157
MIRT713021	hsa-miR-6807-3p	HITS-CLIP	19536157
MIRT453648	hsa-miR-4688	HITS-CLIP	19536157
MIRT453647	hsa-miR-6743-5p	HITS-CLIP	19536157
MIRT713019	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT713020	hsa-miR-1205	HITS-CLIP	19536157
MIRT713018	hsa-miR-6132	HITS-CLIP	19536157
MIRT713017	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT713016	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT713015	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT713014	hsa-miR-3926	HITS-CLIP	19536157
MIRT713026	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT713025	hsa-miR-4418	HITS-CLIP	19536157
MIRT713024	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT713023	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT713022	hsa-miR-217	HITS-CLIP	19536157
MIRT713021	hsa-miR-6807-3p	HITS-CLIP	19536157
MIRT453648	hsa-miR-4688	HITS-CLIP	19536157
MIRT453647	hsa-miR-6743-5p	HITS-CLIP	19536157
MIRT713019	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT713020	hsa-miR-1205	HITS-CLIP	19536157
MIRT713018	hsa-miR-6132	HITS-CLIP	19536157
MIRT713017	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT713016	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT713015	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT713014	hsa-miR-3926	HITS-CLIP	19536157
MIRT713026	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT713025	hsa-miR-4418	HITS-CLIP	19536157
MIRT713024	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT713023	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT713022	hsa-miR-217	HITS-CLIP	19536157
MIRT713021	hsa-miR-6807-3p	HITS-CLIP	19536157
MIRT453648	hsa-miR-4688	HITS-CLIP	19536157
MIRT453647	hsa-miR-6743-5p	HITS-CLIP	19536157
MIRT713019	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT713020	hsa-miR-1205	HITS-CLIP	19536157
MIRT713018	hsa-miR-6132	HITS-CLIP	19536157
MIRT713017	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT713016	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT713015	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT713014	hsa-miR-3926	HITS-CLIP	19536157
MIRT453649	hsa-miR-8087	PAR-CLIP	23592263
MIRT486948	hsa-miR-944	PAR-CLIP	23592263
MIRT453646	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT453645	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453644	hsa-miR-1253	PAR-CLIP	23592263
MIRT453643	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT453642	hsa-miR-4784	PAR-CLIP	23592263
MIRT453641	hsa-miR-4434	PAR-CLIP	23592263
MIRT453640	hsa-miR-4516	PAR-CLIP	23592263
MIRT453639	hsa-miR-5703	PAR-CLIP	23592263
MIRT453638	hsa-miR-765	PAR-CLIP	23592263
MIRT453633	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT453632	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453630	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT453629	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT453627	hsa-miR-5698	PAR-CLIP	23592263
MIRT453628	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT453626	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT453625	hsa-miR-4525	PAR-CLIP	23592263
MIRT453624	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT453623	hsa-miR-4447	PAR-CLIP	23592263
MIRT453622	hsa-miR-4472	PAR-CLIP	23592263
MIRT453621	hsa-miR-1275	PAR-CLIP	23592263
MIRT453620	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT453619	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT453649	hsa-miR-8087	PAR-CLIP	23592263
MIRT453648	hsa-miR-4688	PAR-CLIP	23592263
MIRT453647	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT453646	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT453645	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453644	hsa-miR-1253	PAR-CLIP	23592263
MIRT453643	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT453642	hsa-miR-4784	PAR-CLIP	23592263
MIRT453641	hsa-miR-4434	PAR-CLIP	23592263
MIRT453640	hsa-miR-4516	PAR-CLIP	23592263
MIRT453639	hsa-miR-5703	PAR-CLIP	23592263
MIRT453638	hsa-miR-765	PAR-CLIP	23592263
MIRT453637	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT453636	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT453635	hsa-miR-449a	PAR-CLIP	23592263
MIRT453634	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT453633	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT453632	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453631	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453630	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT453629	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT453627	hsa-miR-5698	PAR-CLIP	23592263
MIRT453628	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT453626	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT453625	hsa-miR-4525	PAR-CLIP	23592263
MIRT453624	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT453623	hsa-miR-4447	PAR-CLIP	23592263
MIRT453622	hsa-miR-4472	PAR-CLIP	23592263
MIRT453621	hsa-miR-1275	PAR-CLIP	23592263
MIRT453620	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT453619	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT713026	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT713025	hsa-miR-4418	HITS-CLIP	19536157
MIRT713024	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT713023	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT713022	hsa-miR-217	HITS-CLIP	19536157
MIRT713021	hsa-miR-6807-3p	HITS-CLIP	19536157
MIRT453648	hsa-miR-4688	HITS-CLIP	19536157
MIRT453647	hsa-miR-6743-5p	HITS-CLIP	19536157
MIRT713019	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT713020	hsa-miR-1205	HITS-CLIP	19536157
MIRT713018	hsa-miR-6132	HITS-CLIP	19536157
MIRT713017	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT713016	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT713015	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT713014	hsa-miR-3926	HITS-CLIP	19536157
MIRT713026	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT713025	hsa-miR-4418	HITS-CLIP	19536157
MIRT713024	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT713023	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT713022	hsa-miR-217	HITS-CLIP	19536157
MIRT713021	hsa-miR-6807-3p	HITS-CLIP	19536157
MIRT453648	hsa-miR-4688	HITS-CLIP	19536157
MIRT453647	hsa-miR-6743-5p	HITS-CLIP	19536157
MIRT713019	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT713020	hsa-miR-1205	HITS-CLIP	19536157
MIRT713018	hsa-miR-6132	HITS-CLIP	19536157
MIRT713017	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT713016	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT713015	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT713014	hsa-miR-3926	HITS-CLIP	19536157
MIRT713026	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT713025	hsa-miR-4418	HITS-CLIP	19536157
MIRT713024	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT713023	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT713022	hsa-miR-217	HITS-CLIP	19536157
MIRT713021	hsa-miR-6807-3p	HITS-CLIP	19536157
MIRT453648	hsa-miR-4688	HITS-CLIP	19536157
MIRT453647	hsa-miR-6743-5p	HITS-CLIP	19536157
MIRT713019	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT713020	hsa-miR-1205	HITS-CLIP	19536157
MIRT713018	hsa-miR-6132	HITS-CLIP	19536157
MIRT713017	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT713016	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT713015	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT713014	hsa-miR-3926	HITS-CLIP	19536157
MIRT453649	hsa-miR-8087	PAR-CLIP	23592263
MIRT486948	hsa-miR-944	PAR-CLIP	23592263
MIRT453646	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT453645	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453644	hsa-miR-1253	PAR-CLIP	23592263
MIRT453643	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT453642	hsa-miR-4784	PAR-CLIP	23592263
MIRT453641	hsa-miR-4434	PAR-CLIP	23592263
MIRT453640	hsa-miR-4516	PAR-CLIP	23592263
MIRT453639	hsa-miR-5703	PAR-CLIP	23592263
MIRT453638	hsa-miR-765	PAR-CLIP	23592263
MIRT453633	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT453632	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453630	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT453629	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT453627	hsa-miR-5698	PAR-CLIP	23592263
MIRT453628	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT453626	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT453625	hsa-miR-4525	PAR-CLIP	23592263
MIRT453624	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT453623	hsa-miR-4447	PAR-CLIP	23592263
MIRT453622	hsa-miR-4472	PAR-CLIP	23592263
MIRT453621	hsa-miR-1275	PAR-CLIP	23592263
MIRT453620	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT453619	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT453649	hsa-miR-8087	PAR-CLIP	23592263
MIRT453648	hsa-miR-4688	PAR-CLIP	23592263
MIRT453647	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT453646	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT453645	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453644	hsa-miR-1253	PAR-CLIP	23592263
MIRT453643	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT453642	hsa-miR-4784	PAR-CLIP	23592263
MIRT453641	hsa-miR-4434	PAR-CLIP	23592263
MIRT453640	hsa-miR-4516	PAR-CLIP	23592263
MIRT453639	hsa-miR-5703	PAR-CLIP	23592263
MIRT453638	hsa-miR-765	PAR-CLIP	23592263
MIRT453637	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT453636	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT453635	hsa-miR-449a	PAR-CLIP	23592263
MIRT453634	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT453633	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT453632	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453631	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453630	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT453629	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT453627	hsa-miR-5698	PAR-CLIP	23592263
MIRT453628	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT453626	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT453625	hsa-miR-4525	PAR-CLIP	23592263
MIRT453624	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT453623	hsa-miR-4447	PAR-CLIP	23592263
MIRT453622	hsa-miR-4472	PAR-CLIP	23592263
MIRT453621	hsa-miR-1275	PAR-CLIP	23592263
MIRT453620	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT453619	hsa-miR-7109-5p	PAR-CLIP	23592263

Show/Hide all (3)

Transcription factor	Regulation	Reference
EGR1	Activation	22228178
EGR1	Unknown	23121767
SP1	Unknown	23121767

Show/Hide all (42)

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:0005515	Function	Protein binding	IPI	33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0006820	Process	Monoatomic anion transport	TAS	3015590
GO:0007283	Process	Spermatogenesis	IEA
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	IEA
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	TAS	3015590
GO:0015297	Function	Antiporter activity	IEA
GO:0015698	Process	Inorganic anion transport	IEA
GO:0015701	Process	Bicarbonate transport	IBA
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	3015590
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0030316	Process	Osteoclast differentiation	IMP	34668226
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0043377	Process	Negative regulation of CD8-positive, alpha-beta T cell differentiation	ISS
GO:0045124	Process	Regulation of bone resorption	ISS
GO:0048565	Process	Digestive tract development	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0051453	Process	Regulation of intracellular pH	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0070175	Process	Positive regulation of enamel mineralization	ISS
GO:0097186	Process	Amelogenesis	ISS
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IDA	15184086
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IMP	34668226
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:2000565	Process	Negative regulation of CD8-positive, alpha-beta T cell proliferation	ISS

MIM	HGNC	e!Ensembl
109280	11028	ENSG00000164889

P04920

Protein name

Anion exchange protein 2 (AE 2) (Anion exchanger 2) (Non-erythroid band 3-like protein) (BND3L) (Solute carrier family 4 member 2)

Protein function

Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:15184086, PubMed:34668226). Plays an important role in osteoclast differentiation and function (PubMe

PDB

8GV8 , 8GV9 , 8GVA , 8GVC , 8GVE , 8GVF , 8GVH , 8JNI , 8JNJ , 8ZLE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07565	Band_3_cyto	352 → 620	Band 3 cytoplasmic domain	Domain
PF00955	HCO3_cotransp	675 → 1169	HCO3- transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform A]: Expressed in the liver, stomach, kidney, prostate, thyroid and rectum. {ECO:0000269|PubMed:10623603}.; TISSUE SPECIFICITY: [Isoform B1]: Expressed in the liver and kidney. {ECO:0000269|PubMed:10623603}.; TISSUE SPECIFICITY

Sequence

MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGE
EPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPT
IEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPAPLPHQ
EATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPLPKAQPGHRSYNLQERRR
IGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSG
REGREPGPTPRARPRAPHKPHEVFVELNELLLDKNQEPQWRETARWIKFEEDVEEETERW
GKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVL
RALLLKHSHPSDEKDFSFPRNISAGSLGSLLGHHHGQGAESDPHVTEPLMGGVPETRLEV
ERERELPPPAPPAGITRSKSKHELKLLEKIPENAEATVVLVGCVEFLSRPTMAFVRLREA
VELDAVLEVPVPVRFLFLLLGPSSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLT
AINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKREEQGRLLPTGAGLEPKSAQDKAL
LQMVEAAGAAEDDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDALDPQCLAAVIFIYFAAL
SPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFS
FCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETF
YKLVKIFQEHPLHGCSASNSSEVDGGENMTWAGARPTLGPGNRSLAGQSGQGKPRGQPNT
ALLSLVLMAGTFFIAFFLRKFKNSRFFPGRIRRVIGDFGVPIAILIMVLVDYSIEDTYTQ
KLSVPSGFSVTAPEKRGWVINPLGEKSPFPVWMMVASLLPAILVFILIFMETQITTLIIS
KKERMLQKGSGFHLDLLLIVAMGGICALFGLPWLAAATVRSVTHANALTVMSKAVAPGDK
PKIQEVKEQRVTGLLVALLVGLSIVIGDLLRQIPLAVLFGIFLYMGVTSLNGIQFYERLH
LLLMPPKHHPDVTYVKKVRTLRMHLFTALQLLCLALLWAVMSTAASLAFPFILILTVPLR
MVVLTRIFTDREMKCLDANEAEPVFDEREGVDEYNEMPMPV

Sequence length

1241

Interactions

View interactions

	KEGG		Reactome
	Salivary secretion Gastric acid secretion Pancreatic secretion Bile secretion		Bicarbonate transporters

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Distal renal tubular acidosis	Likely pathogenic	rs1430578614	RCV001849709	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis, autosomal recessive 9	Pathogenic	rs1797182637, rs1353493677	RCV003226012 RCV003226013	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLEDOCHAL CYST	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma, Tubular	Adenocarcinoma	BEFREE	22228178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34944008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	CTD_human_DG	18988797		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29191842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	18188457		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	18188457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22228178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	21932391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	29540861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choledochal Cyst	Choledochal Cyst	CTD_human_DG	18988797		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choledochal Cyst, Type I	Choledochal Cyst	CTD_human_DG	18988797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type II	Choledochal Cyst	CTD_human_DG	18988797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type III	Choledochal Cyst	CTD_human_DG	18988797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type IV	Choledochal Cyst	CTD_human_DG	18988797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choledochal Cyst, Type V	Choledochal Cyst	CTD_human_DG	18988797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	31538484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	30789925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	8985258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22228178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22228178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19562039	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19224338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	19491853, 22383162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	22383162, 26991014, 8985258	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	BEFREE	31538484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37587861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31546841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22228178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29191842, 29899837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	20507629		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12029638, 18930330, 19491853, 21594562, 21691115, 22383162, 27592379, 28962898, 29540861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	18188457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	18188457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	7778681	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29899837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	34944008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18438347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23121767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC4A2 (solute carrier family 4 member 2)