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.	1175
Gene name Gene Name - the full gene name approved by the HGNC.	Adaptor related protein complex 2 subunit sigma 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AP2S1
Synonyms (NCBI Gene) Gene synonyms aliases	AP17, CLAPS2, FBH3, FBHOk, HHC3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HHC3
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.	One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this comp

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514498	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514499	C>A,T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023500	hsa-miR-1-3p	Proteomics	18668040
MIRT028446	hsa-miR-30a-5p	Proteomics	18668040
MIRT787823	hsa-miR-183	CLIP-seq
MIRT787824	hsa-miR-2110	CLIP-seq
MIRT787825	hsa-miR-3144-5p	CLIP-seq
MIRT787826	hsa-miR-3150a-3p	CLIP-seq
MIRT787827	hsa-miR-3191	CLIP-seq
MIRT787828	hsa-miR-4642	CLIP-seq
MIRT787829	hsa-miR-4652-5p	CLIP-seq
MIRT787830	hsa-miR-564	CLIP-seq
MIRT787831	hsa-miR-1286	CLIP-seq
MIRT787832	hsa-miR-140-3p	CLIP-seq
MIRT787823	hsa-miR-183	CLIP-seq
MIRT787824	hsa-miR-2110	CLIP-seq
MIRT787825	hsa-miR-3144-5p	CLIP-seq
MIRT787826	hsa-miR-3150a-3p	CLIP-seq
MIRT787827	hsa-miR-3191	CLIP-seq
MIRT787828	hsa-miR-4642	CLIP-seq
MIRT787829	hsa-miR-4652-5p	CLIP-seq
MIRT1932315	hsa-miR-1207-3p	CLIP-seq
MIRT1932316	hsa-miR-1288	CLIP-seq
MIRT1932317	hsa-miR-1827	CLIP-seq
MIRT1932318	hsa-miR-2682	CLIP-seq
MIRT1932319	hsa-miR-2861	CLIP-seq
MIRT1932320	hsa-miR-3136-3p	CLIP-seq
MIRT1932321	hsa-miR-3169	CLIP-seq
MIRT1932322	hsa-miR-3179	CLIP-seq
MIRT1932323	hsa-miR-3187-3p	CLIP-seq
MIRT1932324	hsa-miR-3202	CLIP-seq
MIRT1932325	hsa-miR-342-5p	CLIP-seq
MIRT1932326	hsa-miR-34a	CLIP-seq
MIRT1932327	hsa-miR-34c-5p	CLIP-seq
MIRT1932328	hsa-miR-3667-3p	CLIP-seq
MIRT1932329	hsa-miR-3918	CLIP-seq
MIRT1932330	hsa-miR-3940-5p	CLIP-seq
MIRT1932331	hsa-miR-4271	CLIP-seq
MIRT1932332	hsa-miR-4279	CLIP-seq
MIRT1932333	hsa-miR-4287	CLIP-seq
MIRT1932334	hsa-miR-4435	CLIP-seq
MIRT1932335	hsa-miR-4474-3p	CLIP-seq
MIRT1932336	hsa-miR-449a	CLIP-seq
MIRT1932337	hsa-miR-449b	CLIP-seq
MIRT1932338	hsa-miR-449c	CLIP-seq
MIRT1932339	hsa-miR-4507	CLIP-seq
MIRT1932340	hsa-miR-4646-5p	CLIP-seq
MIRT1932341	hsa-miR-4651	CLIP-seq
MIRT1932342	hsa-miR-4664-5p	CLIP-seq
MIRT1932343	hsa-miR-4685-3p	CLIP-seq
MIRT1932344	hsa-miR-4685-5p	CLIP-seq
MIRT1932345	hsa-miR-4691-5p	CLIP-seq
MIRT1932346	hsa-miR-4701-5p	CLIP-seq
MIRT1932347	hsa-miR-4725-3p	CLIP-seq
MIRT1932348	hsa-miR-4731-5p	CLIP-seq
MIRT1932349	hsa-miR-4747-5p	CLIP-seq
MIRT1932350	hsa-miR-4780	CLIP-seq
MIRT1932351	hsa-miR-548s	CLIP-seq
MIRT787830	hsa-miR-564	CLIP-seq
MIRT1932352	hsa-miR-588	CLIP-seq
MIRT1932353	hsa-miR-608	CLIP-seq
MIRT1932354	hsa-miR-623	CLIP-seq
MIRT1932355	hsa-miR-661	CLIP-seq
MIRT1932356	hsa-miR-663b	CLIP-seq
MIRT1932357	hsa-miR-940	CLIP-seq
MIRT787823	hsa-miR-183	CLIP-seq
MIRT1932322	hsa-miR-3179	CLIP-seq
MIRT1932324	hsa-miR-3202	CLIP-seq
MIRT1932331	hsa-miR-4271	CLIP-seq
MIRT787828	hsa-miR-4642	CLIP-seq
MIRT787829	hsa-miR-4652-5p	CLIP-seq
MIRT1932347	hsa-miR-4725-3p	CLIP-seq
MIRT1932349	hsa-miR-4747-5p	CLIP-seq
MIRT787830	hsa-miR-564	CLIP-seq
MIRT1932316	hsa-miR-1288	CLIP-seq
MIRT1932321	hsa-miR-3169	CLIP-seq
MIRT1932317	hsa-miR-1827	CLIP-seq
MIRT2384276	hsa-miR-1913	CLIP-seq
MIRT1932318	hsa-miR-2682	CLIP-seq
MIRT1932322	hsa-miR-3179	CLIP-seq
MIRT1932324	hsa-miR-3202	CLIP-seq
MIRT2384277	hsa-miR-324-3p	CLIP-seq
MIRT1932325	hsa-miR-342-5p	CLIP-seq
MIRT1932326	hsa-miR-34a	CLIP-seq
MIRT1932327	hsa-miR-34c-5p	CLIP-seq
MIRT1932329	hsa-miR-3918	CLIP-seq
MIRT1932331	hsa-miR-4271	CLIP-seq
MIRT1932336	hsa-miR-449a	CLIP-seq
MIRT1932337	hsa-miR-449b	CLIP-seq
MIRT1932338	hsa-miR-449c	CLIP-seq
MIRT1932341	hsa-miR-4651	CLIP-seq
MIRT1932342	hsa-miR-4664-5p	CLIP-seq
MIRT1932344	hsa-miR-4685-5p	CLIP-seq
MIRT1932347	hsa-miR-4725-3p	CLIP-seq
MIRT1932349	hsa-miR-4747-5p	CLIP-seq
MIRT2384278	hsa-miR-4757-5p	CLIP-seq
MIRT1932353	hsa-miR-608	CLIP-seq
MIRT1932315	hsa-miR-1207-3p	CLIP-seq
MIRT1932316	hsa-miR-1288	CLIP-seq
MIRT1932317	hsa-miR-1827	CLIP-seq
MIRT2384276	hsa-miR-1913	CLIP-seq
MIRT1932318	hsa-miR-2682	CLIP-seq
MIRT1932319	hsa-miR-2861	CLIP-seq
MIRT2475709	hsa-miR-3126-5p	CLIP-seq
MIRT1932320	hsa-miR-3136-3p	CLIP-seq
MIRT1932321	hsa-miR-3169	CLIP-seq
MIRT1932322	hsa-miR-3179	CLIP-seq
MIRT1932323	hsa-miR-3187-3p	CLIP-seq
MIRT1932324	hsa-miR-3202	CLIP-seq
MIRT2384277	hsa-miR-324-3p	CLIP-seq
MIRT1932325	hsa-miR-342-5p	CLIP-seq
MIRT1932326	hsa-miR-34a	CLIP-seq
MIRT1932327	hsa-miR-34c-5p	CLIP-seq
MIRT1932328	hsa-miR-3667-3p	CLIP-seq
MIRT1932329	hsa-miR-3918	CLIP-seq
MIRT1932330	hsa-miR-3940-5p	CLIP-seq
MIRT1932331	hsa-miR-4271	CLIP-seq
MIRT1932332	hsa-miR-4279	CLIP-seq
MIRT1932333	hsa-miR-4287	CLIP-seq
MIRT2475710	hsa-miR-4419a	CLIP-seq
MIRT1932334	hsa-miR-4435	CLIP-seq
MIRT1932335	hsa-miR-4474-3p	CLIP-seq
MIRT1932336	hsa-miR-449a	CLIP-seq
MIRT1932337	hsa-miR-449b	CLIP-seq
MIRT1932338	hsa-miR-449c	CLIP-seq
MIRT1932339	hsa-miR-4507	CLIP-seq
MIRT2475711	hsa-miR-4510	CLIP-seq
MIRT2475712	hsa-miR-4533	CLIP-seq
MIRT1932340	hsa-miR-4646-5p	CLIP-seq
MIRT1932341	hsa-miR-4651	CLIP-seq
MIRT1932342	hsa-miR-4664-5p	CLIP-seq
MIRT1932343	hsa-miR-4685-3p	CLIP-seq
MIRT1932344	hsa-miR-4685-5p	CLIP-seq
MIRT1932345	hsa-miR-4691-5p	CLIP-seq
MIRT1932346	hsa-miR-4701-5p	CLIP-seq
MIRT1932347	hsa-miR-4725-3p	CLIP-seq
MIRT1932348	hsa-miR-4731-5p	CLIP-seq
MIRT1932349	hsa-miR-4747-5p	CLIP-seq
MIRT2384278	hsa-miR-4757-5p	CLIP-seq
MIRT1932350	hsa-miR-4780	CLIP-seq
MIRT1932351	hsa-miR-548s	CLIP-seq
MIRT1932352	hsa-miR-588	CLIP-seq
MIRT1932353	hsa-miR-608	CLIP-seq
MIRT1932354	hsa-miR-623	CLIP-seq
MIRT1932355	hsa-miR-661	CLIP-seq
MIRT1932356	hsa-miR-663b	CLIP-seq
MIRT1932357	hsa-miR-940	CLIP-seq
MIRT1932315	hsa-miR-1207-3p	CLIP-seq
MIRT1932316	hsa-miR-1288	CLIP-seq
MIRT1932317	hsa-miR-1827	CLIP-seq
MIRT2384276	hsa-miR-1913	CLIP-seq
MIRT1932318	hsa-miR-2682	CLIP-seq
MIRT1932319	hsa-miR-2861	CLIP-seq
MIRT2475709	hsa-miR-3126-5p	CLIP-seq
MIRT1932320	hsa-miR-3136-3p	CLIP-seq
MIRT1932321	hsa-miR-3169	CLIP-seq
MIRT1932323	hsa-miR-3187-3p	CLIP-seq
MIRT2384277	hsa-miR-324-3p	CLIP-seq
MIRT1932325	hsa-miR-342-5p	CLIP-seq
MIRT1932326	hsa-miR-34a	CLIP-seq
MIRT1932327	hsa-miR-34c-5p	CLIP-seq
MIRT1932328	hsa-miR-3667-3p	CLIP-seq
MIRT1932329	hsa-miR-3918	CLIP-seq
MIRT1932330	hsa-miR-3940-5p	CLIP-seq
MIRT1932332	hsa-miR-4279	CLIP-seq
MIRT1932333	hsa-miR-4287	CLIP-seq
MIRT2475710	hsa-miR-4419a	CLIP-seq
MIRT1932334	hsa-miR-4435	CLIP-seq
MIRT1932335	hsa-miR-4474-3p	CLIP-seq
MIRT1932336	hsa-miR-449a	CLIP-seq
MIRT1932337	hsa-miR-449b	CLIP-seq
MIRT1932338	hsa-miR-449c	CLIP-seq
MIRT1932339	hsa-miR-4507	CLIP-seq
MIRT2475711	hsa-miR-4510	CLIP-seq
MIRT2475712	hsa-miR-4533	CLIP-seq
MIRT1932340	hsa-miR-4646-5p	CLIP-seq
MIRT1932341	hsa-miR-4651	CLIP-seq
MIRT1932342	hsa-miR-4664-5p	CLIP-seq
MIRT1932343	hsa-miR-4685-3p	CLIP-seq
MIRT1932344	hsa-miR-4685-5p	CLIP-seq
MIRT1932345	hsa-miR-4691-5p	CLIP-seq
MIRT1932346	hsa-miR-4701-5p	CLIP-seq
MIRT1932348	hsa-miR-4731-5p	CLIP-seq
MIRT1932349	hsa-miR-4747-5p	CLIP-seq
MIRT2384278	hsa-miR-4757-5p	CLIP-seq
MIRT1932350	hsa-miR-4780	CLIP-seq
MIRT1932351	hsa-miR-548s	CLIP-seq
MIRT1932352	hsa-miR-588	CLIP-seq
MIRT1932353	hsa-miR-608	CLIP-seq
MIRT1932354	hsa-miR-623	CLIP-seq
MIRT1932355	hsa-miR-661	CLIP-seq
MIRT1932356	hsa-miR-663b	CLIP-seq
MIRT1932357	hsa-miR-940	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 29892012, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0030100	Process	Regulation of endocytosis	TAS	10753805
GO:0030122	Component	AP-2 adaptor complex	TAS	10753805, 12121421
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0032802	Process	Low-density lipoprotein particle receptor catabolic process	TAS
GO:0034383	Process	Low-density lipoprotein particle clearance	TAS
GO:0035615	Function	Clathrin adaptor activity	TAS	12121421
GO:0036020	Component	Endolysosome membrane	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045334	Component	Clathrin-coated endocytic vesicle	NAS	25898166
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0048268	Process	Clathrin coat assembly	TAS	10753805
GO:0050690	Process	Regulation of defense response to virus by virus	TAS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0061024	Process	Membrane organization	TAS
GO:0072583	Process	Clathrin-dependent endocytosis	TAS	12121421

MIM	HGNC	e!Ensembl
602242	565	ENSG00000042753

Protein

UniProt ID

P53680

Protein name

AP-2 complex subunit sigma (Adaptor protein complex AP-2 subunit sigma) (Adaptor-related protein complex 2 subunit sigma) (Clathrin assembly protein 2 sigma small chain) (Clathrin coat assembly protein AP17) (Clathrin coat-associated protein AP17) (HA2 17

Protein function

Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be invo

PDB

6URI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	1 → 142	Clathrin adaptor complex small chain	Domain

Sequence

MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYR
RYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLA
GEIRETSQTKVLKQLLMLQSLE

Sequence length

142

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption Huntington disease		Nef Mediated CD4 Down-regulation Retrograde neurotrophin signalling Nef Mediated CD8 Down-regulation MHC class II antigen presentation EPH-ephrin mediated repulsion of cells Trafficking of GluR2-containing AMPA receptors Recycling pathway of L1 WNT5A-dependent internalization of FZD4 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis VLDLR internalisation and degradation LDL clearance

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 View all (1 more)
Hyperparathyroidism	Hyperparathyroidism, Primary	rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709 View all (14 more)
Hypocalciuric hypercalcemia	Hypocalciuric hypercalcemia, familial, type 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, Familial hypocalciuric hypercalcemia type 3	rs121909258, rs121909259, rs104893689, rs121909262, rs28936684, rs121909263, rs121909264, rs121909265, rs121909266, rs104893704, rs104893705, rs797044441, rs104893716, rs121909268, rs104893690 View all (31 more)	26082470, 26963950, 24081735, 23222959

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Pancreatitis	Pancreatitis	ClinVar
Hypocalciuric Hypercalcemia	familial hypocalciuric hypercalcemia 3	GenCC
Autism Spectrum Disorder	autism spectrum disorder	GenCC
Neurodevelopmental Disorders	neurodevelopmental disorder, complex neurodevelopmental disorder	GenCC
Alzheimer disease	Alzheimer disease	GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Calcium Metabolism Disorders	Associate	23222959
Familial benign hypercalcemia type 3	Associate	23222959, 31723423, 33168530, 33499837
Familial Hypophosphatemic Rickets	Associate	24708097
Hypercalciuric Hypocalcemia Familial	Associate	24708097
Hyperparathyroidism Primary	Associate	38130397
Hypocalciuric hypercalcemia familial type 1	Associate	23222959, 31723423, 33168530, 33499837, 38130397
Osteogenesis imperfecta type 3	Associate	33499837
Parathyroid Diseases	Associate	33499837
Triple Negative Breast Neoplasms	Associate	34659224

AP2S1 (adaptor related protein complex 2 subunit sigma 1)