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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80736
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 44 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC44A4
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf29, CTL4, DFNA72, NG22, TPPT, hTPPT1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1135402753	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant

Show/Hide all(94)

miRTarBase ID	miRNA	Experiments
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364442	hsa-miR-125a-3p	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364446	hsa-miR-345	CLIP-seq
MIRT1364447	hsa-miR-3934	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364451	hsa-miR-4454	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364455	hsa-miR-4707-3p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364461	hsa-miR-510	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT2331970	hsa-miR-4797-5p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24379411
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:0008292	Process	Acetylcholine biosynthetic process	IMP	23651124, 28013291
GO:0015220	Function	Choline transmembrane transporter activity	IDA	23651124
GO:0015220	Function	Choline transmembrane transporter activity	IEA
GO:0015220	Function	Choline transmembrane transporter activity	IMP	28013291
GO:0015220	Function	Choline transmembrane transporter activity	TAS
GO:0015297	Function	Antiporter activity	IEA
GO:0015871	Process	Choline transport	IBA
GO:0015871	Process	Choline transport	IDA	23651124
GO:0015871	Process	Choline transport	IMP	23651124, 28013291
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	24379411
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	23651124
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IBA
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IDA	24379411
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IEA
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IMP	24379411
GO:0032475	Process	Otolith formation	ISS
GO:0035675	Process	Neuromast hair cell development	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0061526	Process	Acetylcholine secretion	IMP	23651124, 28013291
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IBA
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IEA
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IMP	24379411

MIM	HGNC	e!Ensembl
606107	13941	ENSG00000204385

Protein

UniProt ID

Q53GD3

Protein name

Choline transporter-like protein 4 (Solute carrier family 44 member 4) (Thiamine pyrophosphate transporter 1) (hTPPT1)

Protein function

Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04515	Choline_transpo	314 → 675	Plasma-membrane choline transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in colon, also detected in prostate, trachea and lung (PubMed:24379411). Isoform 3 is also expressed in colon but a lower levels (PubMed:24379411). {ECO:0000269|PubMed:24379411}.; TISSUE SPECIFICITY: [Isoform 3]: Expre

Sequence

MGGKQRDEDDEAYGKPVKYDPSFRGPIKNRSCTDVICCVLFLLFILGYIVVGIVAWLYGD
PRQVLYPRNSTGAYCGMGENKDKPYLLYFNIFSCILSSNIISVAENGLQCPTPQVCVSSC
PEDPWTVGKNEFSQTVGEVFYTKNRNFCLPGVPWNMTVITSLQQELCPSFLLPSAPALGR
CFPWTNVTPPALPGITNDTTIQQGISGLIDSLNARDISVKIFEDFAQSWYWILVALGVAL
VLSLLFILLLRLVAGPLVLVLILGVLGVLAYGIYYCWEEYRVLRDKGASISQLGFTTNLS
AYQSVQETWLAALIVLAVLEAILLLMLIFLRQRIRIAIALLKEASKAVGQMMSTMFYPLV
TFVLLLICIAYWAMTALYLATSGQPQYVLWASNISSPGCEKVPINTSCNPTAHLVNSSCP
GLMCVFQGYSSKGLIQRSVFNLQIYGVLGLFWTLNWVLALGQCVLAGAFASFYWAFHKPQ
DIPTFPLISAFIRTLRYHTGSLAFGALILTLVQIARVILEYIDHKLRGVQNPVARCIMCC
FKCCLWCLEKFIKFLNRNAYIMIAIYGKNFCVSAKNAFMLLMRNIVRVVVLDKVTDLLLF
FGKLLVVGGVGVLSFFFFSGRIPGLGKDFKSPHLNYYWLPIMTSILGAYVIASGFFSVFG
MCVDTLFLCFLEDLERNNGSLDRPYYMSKSLLKILGKKNEAPPDNKKRKK

Sequence length

710

Interactions

View interactions

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

Show/Hide Unknown Diseases (9)

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.
Asthma	Atopic asthma	N/A	N/A	GWAS
Deafness	hearing loss, autosomal dominant 72, autosomal dominant nonsyndromic hearing loss	N/A	N/A	GenCC
Exudative Macular Degeneration	Exudative age-related macular degeneration	N/A	N/A	GWAS
Hearing Loss	Hearing loss, autosomal dominant 72	N/A	N/A	ClinVar
Hypertension	Hypertension	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS
Vitiligo	Vitiligo	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Habitual	Stimulate	37685876
Alzheimer Disease	Associate	37925455
Carcinoma Renal Cell	Associate	32461965, 38268058
Colitis Ulcerative	Associate	27759029
Lung Neoplasms	Associate	23651124
Macular Degeneration	Associate	25629512
Mucolipidoses	Associate	12067718

SLC44A4 (solute carrier family 44 member 4)