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	120103
Gene name	Solute carrier family 36 member 4
Gene symbol	SLC36A4
Synonyms (NCBI Gene)	PAT4
Chromosome	11
Chromosome location	11q21
Summary	SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 fami

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miRTarBase ID	miRNA	Experiments	Reference
MIRT446734	hsa-miR-487a-5p	PAR-CLIP	22100165
MIRT446733	hsa-miR-487b-5p	PAR-CLIP	22100165
MIRT446732	hsa-miR-548p	PAR-CLIP	22100165
MIRT446731	hsa-miR-300	PAR-CLIP	22100165
MIRT446730	hsa-miR-381-3p	PAR-CLIP	22100165
MIRT446729	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT446727	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446728	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT446734	hsa-miR-487a-5p	PAR-CLIP	22100165
MIRT446733	hsa-miR-487b-5p	PAR-CLIP	22100165
MIRT446732	hsa-miR-548p	PAR-CLIP	22100165
MIRT446731	hsa-miR-300	PAR-CLIP	22100165
MIRT446730	hsa-miR-381-3p	PAR-CLIP	22100165
MIRT446729	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT446727	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446728	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT2331354	hsa-miR-665	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005774	Component	Vacuolar membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006865	Process	Amino acid transport	IEA
GO:0015180	Function	L-alanine transmembrane transporter activity	IBA
GO:0015180	Function	L-alanine transmembrane transporter activity	IDA	21097500
GO:0015193	Function	L-proline transmembrane transporter activity	EXP	21097500
GO:0015193	Function	L-proline transmembrane transporter activity	IBA
GO:0015193	Function	L-proline transmembrane transporter activity	IDA	21097500
GO:0015196	Function	L-tryptophan transmembrane transporter activity	EXP	21097500
GO:0015196	Function	L-tryptophan transmembrane transporter activity	IDA	21097500
GO:0015293	Function	Symporter activity	IEA
GO:0015808	Process	L-alanine transport	IBA
GO:0015808	Process	L-alanine transport	IDA	21097500
GO:0015824	Process	Proline transport	IDA	21097500
GO:0015827	Process	Tryptophan transport	IDA	21097500
GO:0016020	Component	Membrane	IEA
GO:1904271	Process	L-proline import across plasma membrane	TAS
GO:1904556	Process	L-tryptophan transmembrane transport	TAS

MIM	HGNC	e!Ensembl
613760	19660	ENSG00000180773

Q6YBV0

Protein name

Neutral amino acid uniporter 4 (Solute carrier family 36 member 4)

Protein function

Uniporter that mediates the transport of neutral amino acids like L-tryptophan, proline and alanine (PubMed:21097500). The transport activity is sodium ions-independent, electroneutral and therefore functions via facilitated diffusion (PubMed:21

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01490	Aa_trans	57 → 473	Transmembrane amino acid transporter protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in retinal pigmented epithelial cells. {ECO:0000269|PubMed:28083894}.

Sequence

MEAAATPAAAGAARREELDMDVMRPLINEQNFDGTSDEEHEQELLPVQKHYQLDDQEGIS
FVQTLMHLLKGNIGTGLLGLPLAIKNAGIVLGPISLVFIGIISVHCMHILVRCSHFLCLR
FKKSTLGYSDTVSFAMEVSPWSCLQKQAAWGRSVVDFFLVITQLGFCSVYIVFLAENVKQ
VHEGFLESKVFISNSTNSSNPCERRSVDLRIYMLCFLPFIILLVFIRELKNLFVLSFLAN
VSMAVSLVIIYQYVVRNMPDPHNLPIVAGWKKYPLFFGTAVFAFEGIGVVLPLENQMKES
KRFPQALNIGMGIVTTLYVTLATLGYMCFHDEIKGSITLNLPQDVWLYQSVKILYSFGIF
VTYSIQFYVPAEIIIPGITSKFHTKWKQICEFGIRSFLVSITCAGAILIPRLDIVISFVG
AVSSSTLALILPPLVEILTFSKEHYNIWMVLKNISIAFTGVVGFLLGTYITVEEIIYPTP
KVVAGTPQSPFLNLNSTCLTSGLK

Sequence length

504

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Amino acid transport across the plasma membrane Tryptophan catabolism

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 (5)

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.
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26434594		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC36A4 (solute carrier family 36 member 4)