SLC7A4 (solute carrier family 7 member 4)

Gene

• Entrez ID: 6545
• Gene name: Solute carrier family 7 member 4
• Gene symbol: SLC7A4
• Synonyms (NCBI Gene): CAT-4, CAT4, HCAT3, VH
• Chromosome: 22
• Chromosome location: 22q11.21

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1367863	hsa-miR-4650-5p	CLIP-seq
MIRT2109259	hsa-miR-1226	CLIP-seq
MIRT2109260	hsa-miR-1285	CLIP-seq
MIRT2109261	hsa-miR-183	CLIP-seq
MIRT2109262	hsa-miR-3187-5p	CLIP-seq
MIRT2109263	hsa-miR-378g	CLIP-seq
MIRT2109264	hsa-miR-4486	CLIP-seq
MIRT2109265	hsa-miR-612	CLIP-seq
MIRT2109266	hsa-miR-634	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006865	Process	Amino acid transport	IBA
GO:0006865	Process	Amino acid transport	IEA
GO:0015171	Function	Amino acid transmembrane transporter activity	IBA
GO:0015174	Function	Basic amino acid transmembrane transporter activity	TAS	9598310
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9598310
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1990822	Process	Basic amino acid transmembrane transport	IEA

Other IDs

• MIM: 603752
• HGNC: 11062
• e!Ensembl: ENSG00000099960

Protein

• UniProt ID: O43246
• Protein name: Cationic amino acid transporter 4 (CAT-4) (CAT4) (Solute carrier family 7 member 4)
• Protein function: Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13520	AA_permease_2	37 → 432	Amino acid permease	Family
  PF13906	AA_permease_C	540 → 590	C-terminus of AA_permease	Domain

• Sequence:

  MARGLPTIASLARLCQKLNRLKPLEDSTMETSLRRCLSTLDLTLLGVGGMVGSGLYVLTG
  AVAKEVAGPAVLLSFGVAAVASLLAALCYAEFGARVPRTGSAYLFTYVSMGELWAFLIGW
  NVLLEYIIGGAAVARAWSGYLDSMFSHSIRNFTETHVGSWQVPLLGHYPDFLAAGIILLA
  SAFVSCGARVSSWLNHTFSAISLLVILFIVILGFILAQPHNWSADEGGFAPFGFSGVMAG
  TASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISLAIAAGAYILVSTVLTLMVPWHSLD
  PDSALADAFYQRGYRWAGFIVAAGSICAMNTVLLSLLFSLPRIVYAMAADGLFFQVFAHV
  HPRTQVPVAGTLAFGLLTAFLALLLDLESLVQFLSLGTLLAYTFVATSIIVLRFQKSSPP
  SSPGPASPGPLTKQQSSFSDHLQLVGTVHASVPEPGELKPALRPYLGFLDGYSPGAVVTW
  ALGVMLASAITIGCVLVFGNSTLHLPHWGYILLLLLTSVMFLLSLLVLGAHQQQYREDLF
  QIPMVPLIPALSIVLNICLMLKLSYLTWVRFSIWLLMGLAVYFGYGIRHSKENQRELPGL
  NSTHYVVFPRGSLEETVQAMQPPSQAPAQDPGHME

• Sequence length: 635

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	14671632		★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment dysgenesis	BEFREE	9166583		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	18424666		★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder exstrophy	Pubtator	37509153	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy and Epispadias Complex	Bladder exstrophy and epispadias complex	Pubtator	37509153	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	9166583		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	14671632, 15217828, 16049305, 18326815, 18424666, 7513207, 8977195		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	14671632, 7579401		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	9598310		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12049641		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12049641		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	12149222		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26662804	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	1909196		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	1909196, 7579401		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	10634642		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	7883997		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	10634642		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16353132, 7579460		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	7475288, 8892685		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	7475288, 7579401, 8324224		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9189012		★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	9598310		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	9598310		★☆☆☆☆ Found in Text Mining only