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.	55640
Gene name Gene Name - the full gene name approved by the HGNC.	FLVCR choline and putative heme transporter 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FLVCR2
Synonyms (NCBI Gene) Gene synonyms aliases	C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, SLC49A2
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606822	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs267606823	C>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267606824	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606825	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs757778790	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs759469907	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs780523767	T>C	Pathogenic	Splice donor variant

Show/Hide all(210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT999221	hsa-miR-3942-5p	CLIP-seq
MIRT999222	hsa-miR-4307	CLIP-seq
MIRT999223	hsa-miR-4422	CLIP-seq
MIRT999224	hsa-miR-4464	CLIP-seq
MIRT999225	hsa-miR-4703-5p	CLIP-seq
MIRT999226	hsa-miR-4748	CLIP-seq
MIRT999227	hsa-miR-1252	CLIP-seq
MIRT999228	hsa-miR-129-3p	CLIP-seq
MIRT999229	hsa-miR-143	CLIP-seq
MIRT999230	hsa-miR-1910	CLIP-seq
MIRT999231	hsa-miR-1976	CLIP-seq
MIRT999232	hsa-miR-19a	CLIP-seq
MIRT999233	hsa-miR-19b	CLIP-seq
MIRT999234	hsa-miR-200b	CLIP-seq
MIRT999235	hsa-miR-200c	CLIP-seq
MIRT999236	hsa-miR-2053	CLIP-seq
MIRT999237	hsa-miR-2113	CLIP-seq
MIRT999238	hsa-miR-2115	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT999240	hsa-miR-2278	CLIP-seq
MIRT999241	hsa-miR-2355-5p	CLIP-seq
MIRT999242	hsa-miR-2467-3p	CLIP-seq
MIRT999243	hsa-miR-298	CLIP-seq
MIRT999244	hsa-miR-3064-3p	CLIP-seq
MIRT999245	hsa-miR-30a	CLIP-seq
MIRT999246	hsa-miR-30b	CLIP-seq
MIRT999247	hsa-miR-30c	CLIP-seq
MIRT999248	hsa-miR-30d	CLIP-seq
MIRT999249	hsa-miR-30e	CLIP-seq
MIRT999250	hsa-miR-3158-5p	CLIP-seq
MIRT999251	hsa-miR-3183	CLIP-seq
MIRT999252	hsa-miR-323-5p	CLIP-seq
MIRT999253	hsa-miR-342-5p	CLIP-seq
MIRT999254	hsa-miR-3680	CLIP-seq
MIRT999255	hsa-miR-3682-5p	CLIP-seq
MIRT999256	hsa-miR-3907	CLIP-seq
MIRT999257	hsa-miR-4252	CLIP-seq
MIRT999258	hsa-miR-4257	CLIP-seq
MIRT999259	hsa-miR-429	CLIP-seq
MIRT999224	hsa-miR-4464	CLIP-seq
MIRT999260	hsa-miR-4530	CLIP-seq
MIRT999261	hsa-miR-455-3p	CLIP-seq
MIRT999262	hsa-miR-4651	CLIP-seq
MIRT999263	hsa-miR-4664-5p	CLIP-seq
MIRT999264	hsa-miR-4707-5p	CLIP-seq
MIRT738491	hsa-miR-4715-3p	CLIP-seq
MIRT999265	hsa-miR-4723-3p	CLIP-seq
MIRT738493	hsa-miR-4727-5p	CLIP-seq
MIRT999226	hsa-miR-4748	CLIP-seq
MIRT999266	hsa-miR-4768-3p	CLIP-seq
MIRT999267	hsa-miR-4770	CLIP-seq
MIRT999268	hsa-miR-516a-3p	CLIP-seq
MIRT999269	hsa-miR-569	CLIP-seq
MIRT999270	hsa-miR-608	CLIP-seq
MIRT999271	hsa-miR-609	CLIP-seq
MIRT999272	hsa-miR-646	CLIP-seq
MIRT999273	hsa-miR-665	CLIP-seq
MIRT999274	hsa-miR-876-3p	CLIP-seq
MIRT999275	hsa-miR-922	CLIP-seq
MIRT1920429	hsa-miR-2467-5p	CLIP-seq
MIRT1920430	hsa-miR-378g	CLIP-seq
MIRT1920431	hsa-miR-433	CLIP-seq
MIRT1920432	hsa-miR-4712-3p	CLIP-seq
MIRT1996106	hsa-miR-128	CLIP-seq
MIRT1996107	hsa-miR-153	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT1996108	hsa-miR-27a	CLIP-seq
MIRT1996109	hsa-miR-27b	CLIP-seq
MIRT1996110	hsa-miR-3647-3p	CLIP-seq
MIRT1996111	hsa-miR-4282	CLIP-seq
MIRT2230144	hsa-miR-146b-3p	CLIP-seq
MIRT2230145	hsa-miR-190	CLIP-seq
MIRT2230146	hsa-miR-190b	CLIP-seq
MIRT999243	hsa-miR-298	CLIP-seq
MIRT999244	hsa-miR-3064-3p	CLIP-seq
MIRT2230147	hsa-miR-3145-5p	CLIP-seq
MIRT999250	hsa-miR-3158-5p	CLIP-seq
MIRT2230148	hsa-miR-3173-5p	CLIP-seq
MIRT2230149	hsa-miR-323b-3p	CLIP-seq
MIRT2230150	hsa-miR-34a	CLIP-seq
MIRT2230151	hsa-miR-34c-5p	CLIP-seq
MIRT2230152	hsa-miR-449a	CLIP-seq
MIRT2230153	hsa-miR-449b	CLIP-seq
MIRT2230154	hsa-miR-4696	CLIP-seq
MIRT738491	hsa-miR-4715-3p	CLIP-seq
MIRT2230155	hsa-miR-498	CLIP-seq
MIRT2230156	hsa-miR-874	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT2449800	hsa-miR-3160-5p	CLIP-seq
MIRT2449801	hsa-miR-455-5p	CLIP-seq
MIRT2449802	hsa-miR-4719	CLIP-seq
MIRT2449803	hsa-miR-510	CLIP-seq
MIRT2449804	hsa-miR-512-5p	CLIP-seq
MIRT2449805	hsa-miR-513b	CLIP-seq
MIRT2449806	hsa-miR-636	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT2449800	hsa-miR-3160-5p	CLIP-seq
MIRT2449801	hsa-miR-455-5p	CLIP-seq
MIRT2449802	hsa-miR-4719	CLIP-seq
MIRT2449803	hsa-miR-510	CLIP-seq
MIRT2449804	hsa-miR-512-5p	CLIP-seq
MIRT2449805	hsa-miR-513b	CLIP-seq
MIRT2449806	hsa-miR-636	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32973183
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	38302740, 38778100
GO:0005886	Component	Plasma membrane	IEA
GO:0015220	Function	Choline transmembrane transporter activity	IDA	38302740, 38778100
GO:0015220	Function	Choline transmembrane transporter activity	IEA
GO:0015232	Function	Heme transmembrane transporter activity	IBA
GO:0015232	Function	Heme transmembrane transporter activity	IDA	20823265
GO:0015871	Process	Choline transport	IDA	38302740, 38778100
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	20823265, 32973183
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	32973183
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0034228	Function	Ethanolamine transmembrane transporter activity	IDA	38778100
GO:0034229	Process	Ethanolamine transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0097037	Process	Heme export	IBA
GO:0150104	Process	Transport across blood-brain barrier	ISS

MIM	HGNC	e!Ensembl
610865	20105	ENSG00000119686

Protein

UniProt ID

Q9UPI3

Protein name

Choline/ethanolamine transporter FLVCR2 (Calcium-chelate transporter) (CCT) (Feline leukemia virus subgroup C receptor-related protein 2) (Heme transporter FLVCR2)

Protein function

Choline uniporter that specifically mediates choline uptake at the blood-brain-barrier (PubMed:38302740, PubMed:38778100). Responsible for the majority of choline uptake across the blood-brain-barrier from the circulation into the brain (By simi

PDB

8QCX , 8QCY , 8QCZ , 8QD0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	87 → 454	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney (PubMed:20823265). Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bo

Sequence

MVNEGPNQEESDDTPVPESALQADPSVSVHPSVSVHPSVSINPSVSVHPSSSAHPSALAQ
PSGLAHPSSSGPEDLSVIKVSRRRWAVVLVFSCYSMCNSFQWIQYGSINNIFMHFYGVSA
FAIDWLSMCYMLTYIPLLLPVAWLLEKFGLRTIALTGSALNCLGAWVKLGSLKPHLFPVT
VVGQLICSVAQVFILGMPSRIASVWFGANEVSTACSVAVFGNQLGIAIGFLVPPVLVPNI
EDRDELAYHISIMFYIIGGVATLLLILVIIVFKEKPKYPPSRAQSLSYALTSPDASYLGS
IARLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIWHYPGEEVNAGRIGLTIVIAGMLG
AVISGIWLDRSKTYKETTLVVYIMTLVGMVVYTFTLNLGHLWVVFITAGTMGFFMTGYLP
LGFEFAVELTYPESEGISSGLLNISAQVFGIIFTISQGQIIDNYGTKPGNIFLCVFLTLG
AALTAFIKADLRRQKANKETLENKLQEEEEESNTSKVPTAVSEDHL

Sequence length

526

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fowler Syndrome	fowler syndrome	rs1594785775, rs267606825, rs746459536, rs267606822, rs138495705, rs267606823, rs267606824, rs780523767, rs759296326	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Posterior column ataxia-retinitis pigmentosa syndrome	posterior column ataxia-retinitis pigmentosa syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Encephaloclastic Proliferative Vasculopathy	Associate	29500860, 38296890
Intracranial Aneurysm	Associate	39206894
Walker Warburg Syndrome	Associate	38296890

FLVCR2 (FLVCR choline and putative heme transporter 2)