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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	57393
Gene name	Collectrin, amino acid transport regulator
Gene symbol	CLTRN
Synonyms (NCBI Gene)	NX-17NX17TMEM27
Chromosome	X
Chromosome location	Xp22.2
Summary	This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma me

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16330323, 32296183
GO:0005737	Component	Cytoplasm	IDA	16330323
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21907142, 22628310
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0017156	Process	Calcium-ion regulated exocytosis	IDA	16330323
GO:0031526	Component	Brush border membrane	IEA
GO:0035493	Process	SNARE complex assembly	IDA	16330323
GO:0035773	Process	Insulin secretion involved in cellular response to glucose stimulus	IDA	16330323
GO:0042803	Function	Protein homodimerization activity	IDA	22628310
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0051957	Process	Positive regulation of amino acid transport	IBA
GO:0051957	Process	Positive regulation of amino acid transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0141109	Function	Transporter activator activity	IGI	25534429
GO:1905737	Process	Positive regulation of L-proline import across plasma membrane	IGI	25534429

MIM	HGNC	e!Ensembl
300631	29437	ENSG00000147003

Q9HBJ8

Protein name

Collectrin (Transmembrane protein 27)

Protein function

Plays an important role in amino acid transport by acting as binding partner of amino acid transporters SLC6A18 and SLC6A19, regulating their trafficking on the cell surface and their amino acid transporter activity (By similarity). May also pla

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16959	Collectrin	24 → 171	Renal amino acid transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Kidney; collecting ducts. Pancreas; beta cells of islets. {ECO:0000269|PubMed:11278314, ECO:0000269|PubMed:16330323}.

Sequence

MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRK
VPNREATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAFFLND
QTLEFLKIPSTLAPPMDPSVPIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVD
DAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL

Sequence length

222

Interactions

View interactions

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.
AMINOACIDURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27417314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27417314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24905913	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hartnup Disease	Hartnup Disease	BEFREE	18424768, 20134095, 31520464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hartnup disease	Hartnup Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27889958, 28062568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27417314		★★★★★ ★☆☆☆☆ Found in Text Mining only

CLTRN (collectrin, amino acid transport regulator)