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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80736
Gene name	Solute carrier family 44 member 4
Gene symbol	SLC44A4
Synonyms (NCBI Gene)	C6orf29CTL4DFNA72NG22TPPThTPPT1
Chromosome	6
Chromosome location	6p21.33
Summary	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

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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

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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

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

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 (27)

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.
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 72	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal dominant 72	Uncertain significance; Benign; Conflicting classifications of pathogenicity; no classifications from unflagged records	ClinVar ClinVar, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC44A4-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	37925455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32461965, 38268058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28548891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	27759029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 72	Deafness	UNIPROT_DG	28013291		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	27550944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	25629512		★★★★★ ★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	25629512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23651124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	25629512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27550944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22027543, 27550944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27550944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	23622158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	12067718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	20598377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27550944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31002006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	28013291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27550944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22027543, 27550944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	GWASDB_DG	22952805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31002006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	24837172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26741288, 27759029, 28753073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	20526339		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	20526339		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SLC44A4 (solute carrier family 44 member 4)