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	57153
Gene name	Solute carrier family 44 member 2 (CTL2 blood group)
Gene symbol	SLC44A2
Synonyms (NCBI Gene)	CTL2PP1292
Chromosome	19
Chromosome location	19p13.2

300

Show/Hide all (300)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023182	hsa-miR-124-3p	Microarray	18668037
MIRT1364331	hsa-miR-1207-5p	CLIP-seq
MIRT1364332	hsa-miR-138	CLIP-seq
MIRT1364333	hsa-miR-183	CLIP-seq
MIRT1364334	hsa-miR-3166	CLIP-seq
MIRT1364335	hsa-miR-3184	CLIP-seq
MIRT1364336	hsa-miR-3673	CLIP-seq
MIRT1364337	hsa-miR-3944-5p	CLIP-seq
MIRT1364338	hsa-miR-423-5p	CLIP-seq
MIRT1364339	hsa-miR-4269	CLIP-seq
MIRT1364340	hsa-miR-4446-3p	CLIP-seq
MIRT1364341	hsa-miR-4468	CLIP-seq
MIRT1364342	hsa-miR-4488	CLIP-seq
MIRT1364343	hsa-miR-4492	CLIP-seq
MIRT1364344	hsa-miR-4496	CLIP-seq
MIRT1364345	hsa-miR-4498	CLIP-seq
MIRT1364346	hsa-miR-4649-3p	CLIP-seq
MIRT1364347	hsa-miR-4652-5p	CLIP-seq
MIRT1364348	hsa-miR-4697-5p	CLIP-seq
MIRT1364349	hsa-miR-4716-3p	CLIP-seq
MIRT1364350	hsa-miR-4763-3p	CLIP-seq
MIRT1364351	hsa-miR-4771	CLIP-seq
MIRT1364352	hsa-miR-486-3p	CLIP-seq
MIRT1364353	hsa-miR-548q	CLIP-seq
MIRT1364354	hsa-miR-762	CLIP-seq
MIRT1364355	hsa-miR-890	CLIP-seq
MIRT1364356	hsa-miR-1	CLIP-seq
MIRT1364357	hsa-miR-1203	CLIP-seq
MIRT1364358	hsa-miR-1224-3p	CLIP-seq
MIRT1364359	hsa-miR-125a-3p	CLIP-seq
MIRT1364360	hsa-miR-125a-5p	CLIP-seq
MIRT1364361	hsa-miR-125b	CLIP-seq
MIRT1364362	hsa-miR-1271	CLIP-seq
MIRT1364363	hsa-miR-1273g	CLIP-seq
MIRT1364364	hsa-miR-1285	CLIP-seq
MIRT1364365	hsa-miR-1294	CLIP-seq
MIRT1364366	hsa-miR-1324	CLIP-seq
MIRT1364367	hsa-miR-147	CLIP-seq
MIRT1364368	hsa-miR-1538	CLIP-seq
MIRT1364369	hsa-miR-182	CLIP-seq
MIRT1364333	hsa-miR-183	CLIP-seq
MIRT1364370	hsa-miR-1909	CLIP-seq
MIRT1364371	hsa-miR-1910	CLIP-seq
MIRT1364372	hsa-miR-1913	CLIP-seq
MIRT1364373	hsa-miR-1914	CLIP-seq
MIRT1364374	hsa-miR-206	CLIP-seq
MIRT1364375	hsa-miR-2467-3p	CLIP-seq
MIRT1364376	hsa-miR-3126-5p	CLIP-seq
MIRT1364377	hsa-miR-3154	CLIP-seq
MIRT1364378	hsa-miR-3176	CLIP-seq
MIRT1364379	hsa-miR-3179	CLIP-seq
MIRT1364335	hsa-miR-3184	CLIP-seq
MIRT1364380	hsa-miR-3187-5p	CLIP-seq
MIRT1364381	hsa-miR-324-3p	CLIP-seq
MIRT1364382	hsa-miR-331-3p	CLIP-seq
MIRT1364383	hsa-miR-338-5p	CLIP-seq
MIRT1364384	hsa-miR-3622a-5p	CLIP-seq
MIRT1364385	hsa-miR-3650	CLIP-seq
MIRT1364336	hsa-miR-3673	CLIP-seq
MIRT1364386	hsa-miR-3911	CLIP-seq
MIRT1364387	hsa-miR-3922-3p	CLIP-seq
MIRT1364388	hsa-miR-3934	CLIP-seq
MIRT1364389	hsa-miR-3936	CLIP-seq
MIRT1364338	hsa-miR-423-5p	CLIP-seq
MIRT1364390	hsa-miR-4265	CLIP-seq
MIRT1364391	hsa-miR-4290	CLIP-seq
MIRT1364392	hsa-miR-4296	CLIP-seq
MIRT1364393	hsa-miR-4300	CLIP-seq
MIRT1364394	hsa-miR-4319	CLIP-seq
MIRT1364395	hsa-miR-4322	CLIP-seq
MIRT1364396	hsa-miR-4417	CLIP-seq
MIRT1364397	hsa-miR-4419a	CLIP-seq
MIRT1364398	hsa-miR-4423-3p	CLIP-seq
MIRT1364399	hsa-miR-4434	CLIP-seq
MIRT1364400	hsa-miR-4435	CLIP-seq
MIRT1364401	hsa-miR-4436a	CLIP-seq
MIRT1364402	hsa-miR-4440	CLIP-seq
MIRT1364403	hsa-miR-4455	CLIP-seq
MIRT1364404	hsa-miR-4469	CLIP-seq
MIRT1364405	hsa-miR-4470	CLIP-seq
MIRT1364406	hsa-miR-4510	CLIP-seq
MIRT1364407	hsa-miR-4514	CLIP-seq
MIRT1364408	hsa-miR-4516	CLIP-seq
MIRT1364409	hsa-miR-4527	CLIP-seq
MIRT1364410	hsa-miR-4530	CLIP-seq
MIRT1364411	hsa-miR-4531	CLIP-seq
MIRT1364412	hsa-miR-455-3p	CLIP-seq
MIRT1364413	hsa-miR-4646-5p	CLIP-seq
MIRT1364347	hsa-miR-4652-5p	CLIP-seq
MIRT1364414	hsa-miR-4660	CLIP-seq
MIRT1364415	hsa-miR-4676-5p	CLIP-seq
MIRT1364416	hsa-miR-4682	CLIP-seq
MIRT1364417	hsa-miR-4688	CLIP-seq
MIRT1364418	hsa-miR-4690-5p	CLIP-seq
MIRT1364419	hsa-miR-4692	CLIP-seq
MIRT1364420	hsa-miR-4743	CLIP-seq
MIRT1364421	hsa-miR-4745-3p	CLIP-seq
MIRT1364422	hsa-miR-4747-5p	CLIP-seq
MIRT1364423	hsa-miR-4752	CLIP-seq
MIRT1364424	hsa-miR-4781-5p	CLIP-seq
MIRT1364425	hsa-miR-4786-3p	CLIP-seq
MIRT1364426	hsa-miR-486-5p	CLIP-seq
MIRT1364427	hsa-miR-514	CLIP-seq
MIRT1364428	hsa-miR-514b-3p	CLIP-seq
MIRT1364429	hsa-miR-575	CLIP-seq
MIRT1364430	hsa-miR-603	CLIP-seq
MIRT1364431	hsa-miR-612	CLIP-seq
MIRT1364432	hsa-miR-613	CLIP-seq
MIRT1364433	hsa-miR-644	CLIP-seq
MIRT1364434	hsa-miR-646	CLIP-seq
MIRT1364435	hsa-miR-671-5p	CLIP-seq
MIRT1364436	hsa-miR-764	CLIP-seq
MIRT1364355	hsa-miR-890	CLIP-seq
MIRT1364437	hsa-miR-920	CLIP-seq
MIRT1364438	hsa-miR-935	CLIP-seq
MIRT1364439	hsa-miR-940	CLIP-seq
MIRT1364440	hsa-miR-96	CLIP-seq
MIRT1364360	hsa-miR-125a-5p	CLIP-seq
MIRT1364361	hsa-miR-125b	CLIP-seq
MIRT1364333	hsa-miR-183	CLIP-seq
MIRT2108165	hsa-miR-198	CLIP-seq
MIRT1364382	hsa-miR-331-3p	CLIP-seq
MIRT1364336	hsa-miR-3673	CLIP-seq
MIRT1364394	hsa-miR-4319	CLIP-seq
MIRT1364405	hsa-miR-4470	CLIP-seq
MIRT1364413	hsa-miR-4646-5p	CLIP-seq
MIRT1364415	hsa-miR-4676-5p	CLIP-seq
MIRT1364416	hsa-miR-4682	CLIP-seq
MIRT1364417	hsa-miR-4688	CLIP-seq
MIRT1364422	hsa-miR-4747-5p	CLIP-seq
MIRT2108166	hsa-miR-4780	CLIP-seq
MIRT1364425	hsa-miR-4786-3p	CLIP-seq
MIRT1364427	hsa-miR-514	CLIP-seq
MIRT1364428	hsa-miR-514b-3p	CLIP-seq
MIRT1364429	hsa-miR-575	CLIP-seq
MIRT1364435	hsa-miR-671-5p	CLIP-seq
MIRT1364355	hsa-miR-890	CLIP-seq
MIRT1364336	hsa-miR-3673	CLIP-seq
MIRT2331932	hsa-miR-1207-3p	CLIP-seq
MIRT1364356	hsa-miR-1	CLIP-seq
MIRT2331933	hsa-miR-1225-3p	CLIP-seq
MIRT2331934	hsa-miR-1233	CLIP-seq
MIRT1364359	hsa-miR-125a-3p	CLIP-seq
MIRT1364363	hsa-miR-1273g	CLIP-seq
MIRT2331935	hsa-miR-1275	CLIP-seq
MIRT2331936	hsa-miR-1323	CLIP-seq
MIRT2331937	hsa-miR-140-5p	CLIP-seq
MIRT2331938	hsa-miR-149	CLIP-seq
MIRT1364368	hsa-miR-1538	CLIP-seq
MIRT1364333	hsa-miR-183	CLIP-seq
MIRT1364370	hsa-miR-1909	CLIP-seq
MIRT1364373	hsa-miR-1914	CLIP-seq
MIRT1364374	hsa-miR-206	CLIP-seq
MIRT2331939	hsa-miR-24	CLIP-seq
MIRT2331940	hsa-miR-3064-5p	CLIP-seq
MIRT2331941	hsa-miR-3117-3p	CLIP-seq
MIRT2331942	hsa-miR-3150a-3p	CLIP-seq
MIRT1364334	hsa-miR-3166	CLIP-seq
MIRT2331943	hsa-miR-3169	CLIP-seq
MIRT2331944	hsa-miR-3175	CLIP-seq
MIRT1364378	hsa-miR-3176	CLIP-seq
MIRT1364335	hsa-miR-3184	CLIP-seq
MIRT1364383	hsa-miR-338-5p	CLIP-seq
MIRT2331945	hsa-miR-34a	CLIP-seq
MIRT2331946	hsa-miR-34c-5p	CLIP-seq
MIRT2331947	hsa-miR-3545-5p	CLIP-seq
MIRT2331948	hsa-miR-3620	CLIP-seq
MIRT1364384	hsa-miR-3622a-5p	CLIP-seq
MIRT2331949	hsa-miR-3663-3p	CLIP-seq
MIRT1364336	hsa-miR-3673	CLIP-seq
MIRT1364387	hsa-miR-3922-3p	CLIP-seq
MIRT1364388	hsa-miR-3934	CLIP-seq
MIRT1364337	hsa-miR-3944-5p	CLIP-seq
MIRT1364338	hsa-miR-423-5p	CLIP-seq
MIRT2331950	hsa-miR-4284	CLIP-seq
MIRT2331951	hsa-miR-4304	CLIP-seq
MIRT1364398	hsa-miR-4423-3p	CLIP-seq
MIRT1364403	hsa-miR-4455	CLIP-seq
MIRT2331952	hsa-miR-4460	CLIP-seq
MIRT1364404	hsa-miR-4469	CLIP-seq
MIRT1364405	hsa-miR-4470	CLIP-seq
MIRT1364343	hsa-miR-4492	CLIP-seq
MIRT1364345	hsa-miR-4498	CLIP-seq
MIRT2331953	hsa-miR-449a	CLIP-seq
MIRT2331954	hsa-miR-449b	CLIP-seq
MIRT2331955	hsa-miR-4505	CLIP-seq
MIRT1364407	hsa-miR-4514	CLIP-seq
MIRT2331956	hsa-miR-4525	CLIP-seq
MIRT1364409	hsa-miR-4527	CLIP-seq
MIRT1364347	hsa-miR-4652-5p	CLIP-seq
MIRT2331957	hsa-miR-4665-5p	CLIP-seq
MIRT1364417	hsa-miR-4688	CLIP-seq
MIRT1364419	hsa-miR-4692	CLIP-seq
MIRT2331958	hsa-miR-4723-5p	CLIP-seq
MIRT2331959	hsa-miR-4727-3p	CLIP-seq
MIRT2331960	hsa-miR-4728-5p	CLIP-seq
MIRT2331961	hsa-miR-4731-5p	CLIP-seq
MIRT1364421	hsa-miR-4745-3p	CLIP-seq
MIRT2331962	hsa-miR-4759	CLIP-seq
MIRT1364351	hsa-miR-4771	CLIP-seq
MIRT2108166	hsa-miR-4780	CLIP-seq
MIRT1364424	hsa-miR-4781-5p	CLIP-seq
MIRT2331963	hsa-miR-4792	CLIP-seq
MIRT2331964	hsa-miR-4794	CLIP-seq
MIRT1364352	hsa-miR-486-3p	CLIP-seq
MIRT2331965	hsa-miR-548o	CLIP-seq
MIRT2331966	hsa-miR-570	CLIP-seq
MIRT1364432	hsa-miR-613	CLIP-seq
MIRT2331967	hsa-miR-625	CLIP-seq
MIRT2331968	hsa-miR-637	CLIP-seq
MIRT1364354	hsa-miR-762	CLIP-seq
MIRT1364436	hsa-miR-764	CLIP-seq
MIRT1364355	hsa-miR-890	CLIP-seq
MIRT1364438	hsa-miR-935	CLIP-seq
MIRT2331969	hsa-miR-939	CLIP-seq
MIRT1364439	hsa-miR-940	CLIP-seq
MIRT1364356	hsa-miR-1	CLIP-seq
MIRT1364331	hsa-miR-1207-5p	CLIP-seq
MIRT1364363	hsa-miR-1273g	CLIP-seq
MIRT1364332	hsa-miR-138	CLIP-seq
MIRT2331937	hsa-miR-140-5p	CLIP-seq
MIRT2331938	hsa-miR-149	CLIP-seq
MIRT1364374	hsa-miR-206	CLIP-seq
MIRT2331939	hsa-miR-24	CLIP-seq
MIRT2331942	hsa-miR-3150a-3p	CLIP-seq
MIRT1364334	hsa-miR-3166	CLIP-seq
MIRT2331944	hsa-miR-3175	CLIP-seq
MIRT2331947	hsa-miR-3545-5p	CLIP-seq
MIRT1364384	hsa-miR-3622a-5p	CLIP-seq
MIRT1364336	hsa-miR-3673	CLIP-seq
MIRT1364337	hsa-miR-3944-5p	CLIP-seq
MIRT1364339	hsa-miR-4269	CLIP-seq
MIRT2331950	hsa-miR-4284	CLIP-seq
MIRT1364398	hsa-miR-4423-3p	CLIP-seq
MIRT1364340	hsa-miR-4446-3p	CLIP-seq
MIRT1364403	hsa-miR-4455	CLIP-seq
MIRT2331952	hsa-miR-4460	CLIP-seq
MIRT1364342	hsa-miR-4488	CLIP-seq
MIRT1364343	hsa-miR-4492	CLIP-seq
MIRT1364344	hsa-miR-4496	CLIP-seq
MIRT1364345	hsa-miR-4498	CLIP-seq
MIRT1364348	hsa-miR-4697-5p	CLIP-seq
MIRT2331959	hsa-miR-4727-3p	CLIP-seq
MIRT1364350	hsa-miR-4763-3p	CLIP-seq
MIRT1364351	hsa-miR-4771	CLIP-seq
MIRT1364352	hsa-miR-486-3p	CLIP-seq
MIRT1364353	hsa-miR-548q	CLIP-seq
MIRT1364432	hsa-miR-613	CLIP-seq
MIRT1364354	hsa-miR-762	CLIP-seq
MIRT1364438	hsa-miR-935	CLIP-seq
MIRT2331969	hsa-miR-939	CLIP-seq
MIRT1364362	hsa-miR-1271	CLIP-seq
MIRT1364365	hsa-miR-1294	CLIP-seq
MIRT1364367	hsa-miR-147	CLIP-seq
MIRT1364369	hsa-miR-182	CLIP-seq
MIRT1364375	hsa-miR-2467-3p	CLIP-seq
MIRT1364335	hsa-miR-3184	CLIP-seq
MIRT1364385	hsa-miR-3650	CLIP-seq
MIRT1364386	hsa-miR-3911	CLIP-seq
MIRT1364338	hsa-miR-423-5p	CLIP-seq
MIRT1364390	hsa-miR-4265	CLIP-seq
MIRT1364392	hsa-miR-4296	CLIP-seq
MIRT1364395	hsa-miR-4322	CLIP-seq
MIRT1364396	hsa-miR-4417	CLIP-seq
MIRT1364405	hsa-miR-4470	CLIP-seq
MIRT1364433	hsa-miR-644	CLIP-seq
MIRT1364440	hsa-miR-96	CLIP-seq
MIRT2691249	hsa-miR-1262	CLIP-seq
MIRT1364362	hsa-miR-1271	CLIP-seq
MIRT2691250	hsa-miR-1293	CLIP-seq
MIRT1364365	hsa-miR-1294	CLIP-seq
MIRT1364367	hsa-miR-147	CLIP-seq
MIRT1364368	hsa-miR-1538	CLIP-seq
MIRT1364369	hsa-miR-182	CLIP-seq
MIRT2691251	hsa-miR-188-5p	CLIP-seq
MIRT1364372	hsa-miR-1913	CLIP-seq
MIRT1364375	hsa-miR-2467-3p	CLIP-seq
MIRT1364335	hsa-miR-3184	CLIP-seq
MIRT2691252	hsa-miR-3189-3p	CLIP-seq
MIRT1364381	hsa-miR-324-3p	CLIP-seq
MIRT1364385	hsa-miR-3650	CLIP-seq
MIRT1364386	hsa-miR-3911	CLIP-seq
MIRT2691253	hsa-miR-3913-3p	CLIP-seq
MIRT1364338	hsa-miR-423-5p	CLIP-seq
MIRT1364390	hsa-miR-4265	CLIP-seq
MIRT1364391	hsa-miR-4290	CLIP-seq
MIRT1364392	hsa-miR-4296	CLIP-seq
MIRT1364395	hsa-miR-4322	CLIP-seq
MIRT1364396	hsa-miR-4417	CLIP-seq
MIRT1364401	hsa-miR-4436a	CLIP-seq
MIRT1364405	hsa-miR-4470	CLIP-seq
MIRT2691254	hsa-miR-4483	CLIP-seq
MIRT2691255	hsa-miR-4701-3p	CLIP-seq
MIRT1364421	hsa-miR-4745-3p	CLIP-seq
MIRT2108166	hsa-miR-4780	CLIP-seq
MIRT2691256	hsa-miR-489	CLIP-seq
MIRT2691257	hsa-miR-623	CLIP-seq
MIRT2691258	hsa-miR-629	CLIP-seq
MIRT1364433	hsa-miR-644	CLIP-seq
MIRT1364440	hsa-miR-96	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	IDA	26746385
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	33789160
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IDA	26746385, 33789160
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	TAS
GO:0015220	Function	Choline transmembrane transporter activity	IDA	10677542, 20665236
GO:0015220	Function	Choline transmembrane transporter activity	IDA	20410607, 23651124, 33789160
GO:0015220	Function	Choline transmembrane transporter activity	IEA
GO:0015220	Function	Choline transmembrane transporter activity	TAS	10677542
GO:0015297	Function	Antiporter activity	IEA
GO:0015871	Process	Choline transport	IDA	10677542, 20665236
GO:0015871	Process	Choline transport	IDA	20410607, 23651124, 33789160
GO:0015871	Process	Choline transport	TAS	10677542
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10677542
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0034228	Function	Ethanolamine transmembrane transporter activity	IDA	33789160
GO:0034229	Process	Ethanolamine transport	IDA	33789160
GO:0035579	Component	Specific granule membrane	TAS
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IDA	20410607
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145

MIM	HGNC	e!Ensembl
606106	17292	ENSG00000129353

Q8IWA5

Protein name

Choline transporter-like protein 2 (Solute carrier family 44 member 2)

Protein function

[Isoform 1]: Choline/H+ antiporter, mainly in mitochodria (PubMed:10677542, PubMed:20665236, PubMed:23651124, PubMed:33789160). Also acts as a low-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04515	Choline_transpo	320 → 676	Plasma-membrane choline transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Present in supporting cells of the inner ear (at protein level). {ECO:0000269|PubMed:14973250, ECO:0000269|PubMed:20665236}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in inner ear vestibular tissue. {ECO:0000269|PubMed:20665236}.

Sequence

MGDERPHYYGKHGTPQKYDPTFKGPIYNRGCTDIICCVFLLLAIVGYVAVGIIAWTHGDP
RKVIYPTDSRGEFCGQKGTKNENKPYLFYFNIVKCASPLVLLEFQCPTPQICVEKCPDRY
LTYLNARSSRDFEYYKQFCVPGFKNNKGVAEVLQDGDCPAVLIPSKPLARRCFPAIHAYK
GVLMVGNETTYEDGHGSRKNITDLVEGAKKANGVLEARQLAMRIFEDYTVSWYWIIIGLV
IAMAMSLLFIILLRFLAGIMVWVMIIMVILVLGYGIFHCYMEYSRLRGEAGSDVSLVDLG
FQTDFRVYLHLRQTWLAFMIILSILEVIIILLLIFLRKRILIAIALIKEASRAVGYVMCS
LLYPLVTFFLLCLCIAYWASTAVFLSTSNEAVYKIFDDSPCPFTAKTCNPETFPSSNESR
QCPNARCQFAFYGGESGYHRALLGLQIFNAFMFFWLANFVLALGQVTLAGAFASYYWALR
KPDDLPAFPLFSAFGRALRYHTGSLAFGALILAIVQIIRVILEYLDQRLKAAENKFAKCL
MTCLKCCFWCLEKFIKFLNRNAYIMIAIYGTNFCTSARNAFFLLMRNIIRVAVLDKVTDF
LFLLGKLLIVGSVGILAFFFFTHRIRIVQDTAPPLNYYWVPILTVIVGSYLIAHGFFSVY
GMCVDTLFLCFLEDLERNDGSAERPYFMSSTLKKLLNKTNKKAAES

Sequence length

706

Interactions

View interactions

	KEGG		Reactome
	Choline metabolism in cancer		Synthesis of PC Transport of bile salts and organic acids, metal ions and amine compounds Neutrophil degranulation

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 Unknown Diseases (21)

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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COR PULMONALE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blood Platelet Disorders	Platelet disorder	Pubtator	36695047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25772935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	26908601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	35451555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26908601, 27829169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	GWASCAT_DG	26908601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36695047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29223141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29223141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19319905, 27829169, 36695047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35451555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	36695047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	29063783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26908601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29223141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	27262903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	27829169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	27829169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	30479356	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal tubular acidosis distal autosomal recessive	Distal renal tubular acidosis	Pubtator	36695047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26908601, 27829169	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	26908601, 32581188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	26908601, 27829169	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	32314961, 32581188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC44A2 (solute carrier family 44 member 2 (CTL2 blood group))