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	1175
Gene name	Adaptor related protein complex 2 subunit sigma 1
Gene symbol	AP2S1
Synonyms (NCBI Gene)	AP17CLAPS2FBH3FBHOkHHC3
Chromosome	19
Chromosome location	19q13.32
Summary	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

191

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 (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 29892012, 32296183, 33859415, 33961781, 35271311
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	NAS	29184887
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	15941406
GO:0030100	Process	Regulation of endocytosis	TAS	10753805
GO:0030117	Component	Membrane coat	IEA
GO:0030122	Component	AP-2 adaptor complex	IEA
GO:0030122	Component	AP-2 adaptor complex	NAS	12086608
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:0035615	Function	Clathrin adaptor activity	IEA
GO:0035615	Function	Clathrin adaptor activity	TAS	12121421
GO:0036020	Component	Endolysosome membrane	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0045202	Component	Synapse	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	NAS	25898166
GO:0048268	Process	Clathrin coat assembly	TAS	10753805
GO:0048488	Process	Synaptic vesicle endocytosis	IDA	11102472
GO:0048488	Process	Synaptic vesicle endocytosis	IMP	11102472
GO:0048488	Process	Synaptic vesicle endocytosis	NAS	11102472
GO:0072583	Process	Clathrin-dependent endocytosis	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	NAS	29184887
GO:0072583	Process	Clathrin-dependent endocytosis	TAS	12121421
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098884	Process	Postsynaptic neurotransmitter receptor internalization	NAS	31671891

MIM	HGNC	e!Ensembl
602242	565	ENSG00000042753

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AP2S1-related disorder	Pathogenic; Likely pathogenic	rs397514498, rs397514499	RCV004748539 RCV003904882 RCV004748540
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Likely pathogenic; Pathogenic	rs397514499	RCV006436409
Familial hypocalciuric hypercalcemia 3	Pathogenic; Likely pathogenic	rs397514498, rs397514499	RCV000032619 RCV000032620 RCV000032621

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs312186	RCV005892672
AP2S1-related Neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs1064795235	RCV005869496
Autism	Conflicting classifications of pathogenicity	rs1064795235	RCV006449273
Colorectal cancer	Benign	rs312186	RCV005892673
Delayed speech and language development	Conflicting classifications of pathogenicity	rs1064795235	RCV006449273
Hepatocellular carcinoma	Benign	rs312186	RCV005892671
Motor delay	Conflicting classifications of pathogenicity	rs1064795235	RCV006449273
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs1064795235	RCV001374920
Seizure	Conflicting classifications of pathogenicity	rs1064795235	RCV006449273

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)