AP1S2 - adaptor related protein complex 1 subunit sigma 2 Gene

Also Known as PGS; DC22; MRX59; MRXS5; MRXSF; MRXS21; SIGMA1B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8905

About AP1S2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:15,825,806-15,854,813 (from NCBI)

This gene has 11 transcripts (splice variants), 284 orthologues, 6 paralogues and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 13.6), endometrium (RPKM 13.6) and 23 other tissues.

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 transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

AP1S2 Products (5)

mRNA	Protein	Name
NM_001272071.2	NP_001259000.1	AP-1 complex subunit sigma-2 isoform 1
NM_001368994.1	NP_001355923.1	AP-1 complex subunit sigma-2 isoform 3
NM_001369007.1	NP_001355936.1	AP-1 complex subunit sigma-2 isoform 4
NM_001369008.1	NP_001355937.1	AP-1 complex subunit sigma-2 isoform 5
NM_003916.5	NP_003907.3	AP-1 complex subunit sigma-2 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP1S2 Protein Structure

Clat_adaptor_s

0
100
157 a.a.

Protein Preferred Names	Protein Names
AP-1 complex subunit sigma-2	adapter-related protein complex 1 sigma-1B subunit

AP1S2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AP1S2	P56377	AP1G1	Homo sapiens	O43747-2	Y2H Array	25416956
Intra	AP1S2	P56377	AP1G1	Homo sapiens	O43747-2	Validated Y2H	25416956
Intra	AP1S2	P56377	AP1G1	Homo sapiens	O43747-2	Anti Tag CoIP	28514442
Intra	AP1S2	P56377	AP1G1	Homo sapiens	O43747-2	Y2H Prey Pooling	25416956
Intra	AP1S2	P56377	AP1G1	Homo sapiens	O43747	Anti Tag CoIP	33961781
Intra	AP1S2	P56377	AP1G1	Homo sapiens	O43747	Anti Tag CoIP	26496610
Intra	AP1S2	P56377	MAB21L2	Homo sapiens	Q9Y586	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pettigrew Syndrome	PGS Mrxs5 Mrx59 Mrxs21 X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome Mental Retardation, X-Linked, Syndromic 5 Mrxsf Syndromic X-Linked Intellectual Disability 5 Fried Syndrome Mental Retardation, X-Linked Syndromic 5 Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures Mental Retardation, X-Linked, Syndromic, Fried Type Mental Retardation, X-Linked, Syndromic 21 Syndromic X-Linked Mental Retardation 21 Syndromic X-Linked Mental Retardation Fried Type X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures X-Linked Syndromic Intellectual Disability 5 X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome Mental Retardation, X-Linked Syndromic, Fried Type Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Mental Retardation, X-Linked 59
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Exocervical Carcinoma	Carcinoma Of Exocervix Carcinoma Of The Exocervix
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Mednik Syndrome Erythrokeratodermia Variabilis 3 MEDNIK Ekv3 Erythrokeratodermia Variabilis, Kamouraska Type Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma Erythrokeratodermia Variabilis Kamouraska Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
Parkinson Disease 1, Autosomal Dominant	Autosomal Dominant Parkinson Disease 1 PARK1 Parkinson Disease 1 Parkinson'S Disease 1 Atypical Parkinson Disease Parkinson Disease 1, Autosomal Dominant Lewy Body Autosomal Dominant Parkinson'S Disease 1 Lewy Body Parkinsonism Parkinson Disease Autosomal Dominant 1 Parkinson Disease Familial Type 1 Parkinson Disease, Type 1 Parkinson Disease, Familial, Type 1
Hermansky-Pudlak Syndrome 2	HPS2 Hermansky Pudlak Syndrome 2 Platelet Defects And Oculocutaneous Albinism Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 2 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
Basal Ganglia Disease	Basal Ganglia Diseases Basal Ganglia Disorders Abnormality Of The Basal Ganglia
Melnick-Needles Syndrome	MNS Melnick-Needles Osteodysplasty Osteodysplasty Of Melnick And Needles Osteochondrodysplasias
Syndromic Intellectual Disability
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00782	AP1S2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22389	Ap1s2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28913	Ap1s2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AP1S2	VGNC	VGNC:69961
Rattus norvegicus	AP1S2	RGD	RGD:1561862
Bos taurus	AP1S2	VGNC	VGNC:50199
Canis familiaris	AP1S2	VGNC	VGNC:53701
Mus musculus	AP1S2	MGD	MGI:1889383
Others	AP1S2	NCBI