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	8905
Gene name	Adaptor related protein complex 1 subunit sigma 2
Gene symbol	AP1S2
Synonyms (NCBI Gene)	DC22MRX59MRXS21MRXS5MRXSFPGSSIGMA1B
Chromosome	X
Chromosome location	Xp22.2
Summary	Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembra

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894735	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs104894739	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137852213	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs587776738	TGTA>-	Pathogenic	Splice acceptor variant, intron variant
rs587776739	C>T	Pathogenic	Intron variant
rs587777542	C>A	Pathogenic	Splice donor variant
rs886041964	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1060499672	G>T	Pathogenic	Intron variant
rs1555904148	T>C	Pathogenic	Splice acceptor variant
rs1555904182	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555904878	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005816	hsa-miR-204-5p	Luciferase reporter assayMicroarrayqRT-PCR	21282569
MIRT024614	hsa-miR-215-5p	Microarray	19074876
MIRT026570	hsa-miR-192-5p	Microarray	19074876
MIRT054445	hsa-miR-211-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24039954
MIRT054445	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT005816	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624728	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT624727	hsa-miR-3938	HITS-CLIP	23824327
MIRT624726	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624725	hsa-miR-4504	HITS-CLIP	23824327
MIRT624724	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT624723	hsa-miR-623	HITS-CLIP	23824327
MIRT624722	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624721	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624720	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT054445	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT005816	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624728	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT624727	hsa-miR-3938	HITS-CLIP	23824327
MIRT624726	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624725	hsa-miR-4504	HITS-CLIP	23824327
MIRT624724	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT624723	hsa-miR-623	HITS-CLIP	23824327
MIRT624722	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624721	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624720	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT787270	hsa-miR-101	CLIP-seq
MIRT787271	hsa-miR-144	CLIP-seq
MIRT787272	hsa-miR-200b	CLIP-seq
MIRT787273	hsa-miR-200c	CLIP-seq
MIRT787274	hsa-miR-3121-5p	CLIP-seq
MIRT787275	hsa-miR-3617	CLIP-seq
MIRT787276	hsa-miR-3647-3p	CLIP-seq
MIRT787277	hsa-miR-3671	CLIP-seq
MIRT787278	hsa-miR-3913-3p	CLIP-seq
MIRT787279	hsa-miR-429	CLIP-seq
MIRT787280	hsa-miR-4310	CLIP-seq
MIRT787281	hsa-miR-4432	CLIP-seq
MIRT787282	hsa-miR-4729	CLIP-seq
MIRT787283	hsa-miR-4766-3p	CLIP-seq
MIRT787284	hsa-miR-4802-3p	CLIP-seq
MIRT787285	hsa-miR-548p	CLIP-seq
MIRT787286	hsa-miR-556-5p	CLIP-seq
MIRT787287	hsa-miR-600	CLIP-seq
MIRT787288	hsa-miR-610	CLIP-seq
MIRT787289	hsa-miR-641	CLIP-seq
MIRT1932224	hsa-miR-3065-5p	CLIP-seq
MIRT787277	hsa-miR-3671	CLIP-seq
MIRT1932225	hsa-miR-513a-3p	CLIP-seq
MIRT787272	hsa-miR-200b	CLIP-seq
MIRT787273	hsa-miR-200c	CLIP-seq
MIRT2172585	hsa-miR-3609	CLIP-seq
MIRT787275	hsa-miR-3617	CLIP-seq
MIRT2172586	hsa-miR-369-3p	CLIP-seq
MIRT787278	hsa-miR-3913-3p	CLIP-seq
MIRT787279	hsa-miR-429	CLIP-seq
MIRT2172587	hsa-miR-4318	CLIP-seq
MIRT2172588	hsa-miR-455-5p	CLIP-seq
MIRT2172589	hsa-miR-4693-5p	CLIP-seq
MIRT787283	hsa-miR-4766-3p	CLIP-seq
MIRT2172590	hsa-miR-548ah	CLIP-seq
MIRT787285	hsa-miR-548p	CLIP-seq
MIRT787287	hsa-miR-600	CLIP-seq
MIRT787289	hsa-miR-641	CLIP-seq
MIRT2172591	hsa-miR-892a	CLIP-seq
MIRT2426369	hsa-miR-204	CLIP-seq
MIRT2426370	hsa-miR-211	CLIP-seq
MIRT2475588	hsa-miR-365	CLIP-seq
MIRT2475589	hsa-miR-376c	CLIP-seq
MIRT2475590	hsa-miR-3976	CLIP-seq
MIRT2475591	hsa-miR-4272	CLIP-seq
MIRT2475592	hsa-miR-4275	CLIP-seq
MIRT2475593	hsa-miR-4777-3p	CLIP-seq
MIRT2475594	hsa-miR-494	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 26496610, 28514442, 29892012, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	NAS	23247405
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006886	Process	Intracellular protein transport	IEA
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	23247405
GO:0030117	Component	Membrane coat	IEA
GO:0030119	Component	AP-type membrane coat adaptor complex	TAS	9733768
GO:0030121	Component	AP-1 adaptor complex	IEA
GO:0030121	Component	AP-1 adaptor complex	NAS	15377783
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	NAS	15377783
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0035615	Function	Clathrin adaptor activity	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:1903232	Process	Melanosome assembly	NAS	23247405

MIM	HGNC	e!Ensembl
300629	560	ENSG00000182287

P56377

Protein name

AP-1 complex subunit sigma-2 (Adaptor protein complex AP-1 subunit sigma-1B) (Adaptor-related protein complex 1 subunit sigma-1B) (Clathrin assembly protein complex 1 sigma-1B small chain) (Golgi adaptor HA1/AP1 adaptin sigma-1B subunit) (Sigma 1B subunit

Protein function

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognitio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	1 → 141	Clathrin adaptor complex small chain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MQFMLLFSRQGKLRLQKWYVPLSDKEKKKITRELVQTVLARKPKMCSFLEWRDLKIVYKR
YASLYFCCAIEDQDNELITLEIIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLLGG
EVQETSKKNVLKAIEQADLLQEEAETPRSVLEEIGLT

Sequence length

157

Interactions

View interactions

	KEGG		Reactome
	Lysosome Human immunodeficiency virus 1 infection		Nef mediated downregulation of MHC class I complex cell surface expression MHC class II antigen presentation Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fried syndrome	Pathogenic	rs1555904878	RCV001824840
Pettigrew syndrome	Pathogenic; Likely pathogenic	rs587777542, rs2519915767, rs2519929822, rs2519914292, rs104894739, rs104894735, rs587776738, rs587776739, rs137852213, rs2519914351, rs1060499672, rs1555904182, rs1555904878, rs1934288587, rs1933972061, rs1934209113 View all (1 more)	RCV000128636 RCV003149130 RCV003153171 RCV004798977 RCV000011524 RCV000011525 RCV000011526 RCV000011527 RCV000011528 RCV004586090 RCV000449627 RCV000504312 RCV001824840 RCV001194623 RCV001248805 RCV001270029
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1934209113	RCV005910799

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs61741688	RCV005886990
AP1S2-related disorder	Uncertain significance; Benign; Likely benign	rs2519915876, rs770199415	RCV003391526 RCV003925445
Clear cell carcinoma of kidney	Benign; Likely benign	rs61741688	RCV005886992
Colon adenocarcinoma	Benign; Likely benign	rs61741688	RCV005886989
Gastric cancer	Benign	rs798168	RCV005923071
Hepatocellular carcinoma	Benign; Likely benign	rs61741688	RCV005886991
Malignant lymphoma, large B-cell, diffuse	Benign	rs798168	RCV005923070
Melanoma	Benign; Likely benign	rs61741688	RCV005886996
Sarcoma	Benign; Likely benign	rs61741688	RCV005886993
Uterine carcinosarcoma	Benign; Likely benign	rs798168, rs61741688	RCV005923072 RCV005886994
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs61741688	RCV005886997

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aicardi Goutieres syndrome	Associate	17617514
ATR X syndrome	Associate	23756445
Azoospermia Nonobstructive	Associate	38403804
Basal Ganglia Diseases	Associate	23756445
Body Weight	Stimulate	35178801
Breast Neoplasms	Associate	31019021
Dandy Walker Syndrome	Associate	23756445
Endometriosis	Associate	40165344
Genetic Diseases Inborn	Associate	17617514
Hydrocephalus	Associate	17617514, 34092257
Intellectual Disability	Associate	17186471, 17617514, 23756445, 25649377
Leiomyoma	Associate	21685710
Lung Diseases	Associate	26635082
Melanoma	Associate	31712557
Mental Retardation X Linked	Associate	17186471, 17617514, 22210230
Mental retardation X linked syndromic 5	Associate	17617514, 23756445
Muscle Hypotonia	Associate	22210230
Neoplasms	Associate	33067881, 34732702
Osteoarthritis	Associate	31523167
Prostatic Neoplasms	Associate	33672425
Psychomotor Disorders	Associate	22210230
Seizures	Associate	23756445
Stomach Neoplasms	Associate	33067881
Thakker Donnai syndrome	Associate	22210230

AP1S2 (adaptor related protein complex 1 subunit sigma 2)