SYNGAP1 - synaptic Ras GTPase activating protein 1 Gene

Also Known as MRD5; RASA1; RASA5; SYNGAP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8831

About SYNGAP1

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,418,167-33,453,689 (from NCBI)

This gene has 30 transcripts (splice variants), 1 gene allele, 279 orthologues, 10 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 17.6), ovary (RPKM 8.3) and 23 other tissues.

Summary

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and Phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

SYNGAP1 Products (2)

mRNA	Protein	Name
NM_001130066.2	NP_001123538.1	ras/Rap GTPase-activating protein SynGAP isoform 2
NM_006772.3	NP_006763.2	ras/Rap GTPase-activating protein SynGAP isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	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

SYNGAP1 Protein Structure

RasGAP

DUF3498

0
200
400
600
800
1000
1200
1299 a.a.

Protein Preferred Names	Protein Names
ras/Rap GTPase-activating protein SynGAP	Ras GTPase-activating protein SynGAP

SYNGAP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SYNGAP1	Q96PV0	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	32296183
Intra	SYNGAP1	Q96PV0	MID2	Homo sapiens	Q9UJV3-2	Y2H Array	32296183
Intra	SYNGAP1	Q96PV0	MID2	Homo sapiens	Q9UJV3-2	Y2H Prey Pooling	32296183
Intra	SYNGAP1	Q96PV0	EPN2	Homo sapiens	O95208	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	SPAG8	Homo sapiens	Q99932-2	Validated Y2H	32296183
Intra	SYNGAP1	Q96PV0	HNRNPA2B1	Homo sapiens	P22626	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	HNRNPA2B1	Homo sapiens	P22626	Anti Bait CoIP	36950384
Intra	SYNGAP1	Q96PV0	SMARCC2	Homo sapiens	Q8TAQ2	Anti Bait CoIP	36950384
Intra	SYNGAP1	Q96PV0	H1-4	Homo sapiens	P10412	Crosslink	30021884
Intra	SYNGAP1	Q96PV0	H1-4	Homo sapiens	P10412	Anti Bait CoIP	36950384
Intra	SYNGAP1	Q96PV0	FMR1	Homo sapiens	Q06787	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	ISL1	Homo sapiens	P61371	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	ISL1	Homo sapiens	P61371	Anti Bait CoIP	36950384
Intra	SYNGAP1	Q96PV0	NEGR1	Homo sapiens	Q7Z3B1	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	LDB1	Homo sapiens	Q86U70	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	LDB1	Homo sapiens	Q86U70	Anti Bait CoIP	36950384
Intra	SYNGAP1	Q96PV0	CTNND1	Homo sapiens	O60716	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	SYNGAP1	Q96PV0	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	SYNGAP1	Q96PV0	FXR1	Homo sapiens	P51114	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	NCK2	Homo sapiens	O43639	Y2H Array	32296183
Intra	SYNGAP1	Q96PV0	GNAO1	Homo sapiens	P09471	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	TRIM27	Homo sapiens	P14373	Y2H Array	32296183
Intra	SYNGAP1	Q96PV0	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	32296183
Intra	SYNGAP1	Q96PV0	ELAVL3	Homo sapiens	Q14576	Anti Bait CoIP	37207277
Intra	SYNGAP1	Q96PV0	ELAVL3	Homo sapiens	Q14576	Anti Bait CoIP	36950384

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SYNGAP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71619	SYNGAP1 Protein, Human (His)	Q96PV0 (M1161-H1343)	≥ 90%, as determined by reducing SDS-PAGE.

SYNGAP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81944	SynGAP Antibody (YA1689)	WB	Rat
HY-P81944A	SynGAP Antibody (YA1689)(PBS only)	WB	Rat
HY-P87098	SynGAP Antibody (YA6791)	WB, IHC-P, IF-Tissue	Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 5	MRD5 Autosomal Dominant Non-Syndromic Intellectual Disability 5 Intellectual Disability, Autosomal Dominant 5 Mental Retardation, Autosomal Dominant 5 Autosomal Dominant Intellectual Developmental Disorder 5 Syngap1-Related Non-Syndromic Intellectual Disability Autosomal Dominant Intellectual Disability 5 Syngap1 Syndrome Syngap1-Related Nsid Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism
Syngap1-Related Intellectual Disability	Syngap1-Related Developmental And Epileptic Encephalopathy Syngap1-Related Developmental Epileptic Encephalopathy Mrd5 Syngap1-Related Dee Mental Retardation, Autosomal Dominant 5
Infantile Epilepsy Syndrome	Infantile Epilepsy
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Epilepsy With Myoclonic-Atonic Seizures	Myoclonic Astatic Epilepsy Doose Syndrome Epilepsy With Myoclonic-Astatic Seizures Epilepsy With Myoclono-Astatic Crisis Myoclonic-Astatic Epilepsy Emas Mae Myoclonic Atonic Epilepsy Myoclonic-Astatic Epilepsy In Early Childhood
Autosomal Dominant Non-Syndromic Intellectual Disability
Intellectual Developmental Disorder, Autosomal Recessive 5	MRT5 Mental Retardation, Autosomal Recessive 5 Autosomal Recessive Intellectual Developmental Disorder 5 Mental Retardation, Autosomal Recessive, 5 Mental Retardation, Autosomal Recessive, Type 5
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Motor Stereotypies	Motor Stereotypy
Stereotypic Movement Disorder	Stereotypy Habit Disorder Stereotyped Repetitive Movements Stereotyped Disorder Stereotypes Nos Stereotype Habit Disorder
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Angiokeratoma Circumscriptum
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Hemangioma Of Intra-Abdominal Structure	Hemangioma Of Intra-Abdominal Structures Hemangioma, Intra-Abdominal
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Sturge-Weber Syndrome	SWS Encephalotrigeminal Angiomatosis Encephalofacial Angiomatosis Sturge-Weber-Dimitri Syndrome Sturge-Weber-Krabbe Syndrome Fourth Phacomatosis Leptomeningeal Angiomatosis Meningeal Capillary Angiomatosis Sturge-Weber-Krabbe Angiomatosis Sturge-Weber Syndrome, Somatic, Mosaic Sws Type I - Facial And Leptomeningeal Angiomas Sws Type Ii - Facial Angioma Alone, No Cns Involvement Sws Type Iii - Isolated Leptomeningeal Angiomas Sturge Weber Syndrome Angiomatosis Aculoorbital-Thalamic Syndrome Encephalofacial Hemangiomatosis Encephalofacial Hemangiomatosis Syndrome Meningo-Oculo-Facial Angiomatosis Meningofacial Angiomatosis-Cerebral Calcification Syndrome Neuroretinoangiomatosis Phakomatosis, Sturge-Weber Weber-Sturge-Dimitri Syndrome
Reflex Epilepsy	Epilepsy, Reflex Epilepsy, Sensory-Induced Epilepsy Reflex
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
Lymphatic Malformation 12	Central Conducting Lymphatic Anomaly LMPHM12 Ccla Lymphatic Malformation-7 Doid:0081030
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cloves Syndrome Clove Syndrome Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities Clove Syndrome, Somatic Nevus Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome CLOVE Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities Congenital Arteriovenous Malformation Arteriovenous Hemangioma Melanocytic Nevus Benign Melanocytic Nevus
Proteus Syndrome	Proteus Syndrome, Somatic Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly Wiedemann'S Syndrome Hemihypertrophy And Macrocephaly Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly Ps PROTEUSS Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly
Tuberous Sclerosis	Tuberous Sclerosis Syndrome Bourneville'S Disease Epiloia Cerebral Sclerosis Tuberose Sclerosis Tuberous Sclerosis 1 Bourneville Disease Bourneville Phakomatosis Pringle'S Disease
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay Syndrome KTS Ktw Syndrome Angioosteohypertrophy Syndrome Angio-Osteohypertrophy Syndrome Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome Haemangiectatic Hypertrophy Weber-Klippel-Trenaunay Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease Weber Klippel Trenaunay
Cardiovascular Organ Benign Neoplasm
Venous Malformations, Multiple Cutaneous And Mucosal	VMCM Multiple Cutaneous And Mucosal Venous Malformations Mucocutaneous Venous Malformations Vmcm1 Cutaneous And Mucosal Venous Malformation Dominantly Inherited Venous Malformations
Taylor'S Syndrome	Pelvic Congestion Syndrome Congestion-Fibrosis Syndrome Taylor Syndrome
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Intracranial Cavernous Angioma	Intracranial Cavernoma Intracranial Cavernous Hemangioma
Intracranial Structure Hemangioma	Angioma Of Intracranial Structure Hemangioma Of Intracranial Structure Hemangioma Of Intracranial Structures
Cardiofaciocutaneous Syndrome 1	Cardiofaciocutaneous Syndrome Cfc Syndrome Cardio-Facio-Cutaneous Syndrome CFC1 Cfcs Cardio-Facial-Cutaneous Syndrome Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure Cardiofaciocutaneous Syndrome, Type 1
Schuurs-Hoeijmakers Syndrome	SHMS Pacs1-Related Syndrome Mrd17 Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome Intellectual Developmental Disorder, Autosomal Dominant 17 Autosomal Dominant Intellectual Disability-17 Autosomal Dominant Mental Retardation 17 Pacs1 Syndrome Mental Retardation, Autosomal Dominant 17
Capillary Hemangioma	Infantile Hemangioma Strawberry Nevus Of Skin Cellular Hemangioma Of Infancy Congenital Vascular Hamartoma Congenital Vascular Naevus Juvenile Hemangioma Strawberry Haemangioma Strawberry Nevus Hemangioma Capillary Hemangioma, Capillary Hemangioma, Cavernous
Infiltrating Angiolipoma	Angiolipoma, Infiltrating
Capillary Lymphangioma	Microcystic Lymphatic Malformation Capillary Lymphatic Malformation Microcystic Infiltrating Lymphatic Malformation Microcystic Lymphangioma Superficial Lymphangioma Cutaneous Lymphangioma Circumscriptum Superficial Lymphatic Malformation Cutaneous Lymphangioma Lymphangioma Of Skin Lymphangioma Circumscriptum
Arteriovenous Malformations Of The Brain	Cerebral Arteriovenous Malformation Intracranial Arteriovenous Malformation Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To Intracranial Arteriovenous Malformations Bavm Cerebral Arteriovenous Malformations Intracranial Hemorrhage In Brain Cerebrovascular Malformations Arteriovenous Malformation Of The Brain, Somatic Intracranial Avm Arteriovenous Malformations Cerebral
Costello Syndrome	Faciocutaneoskeletal Syndrome Fcs Syndrome Congenital Myopathy With Excess Of Muscle Spindles CSTLO CMEMS Fcss Myopathy, Congenital, With Excess Of Muscle Spindles
Noonan Syndrome With Multiple Lentigines	Leopard Syndrome Multiple Lentigines Syndrome Moynahan Syndrome Cardiomyopathic Lentiginosis Progressive Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Lentiginosis Profusa Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome Generalized Lentiginosis Gorlin Syndrome Ii Lentiginosis Profusa Syndrome Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes Diffuse Lentiginosis Nsml Familial Multiple Lentigines Syndrome Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type Progressive Cardiomyopathic Lentiginosis Syndrome Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
Nevus, Epidermal	Epidermal Nevus Woolly Hair Nevus Epidermal Naevus Epidermal Nevus Syndrome Nevus, Keratinocytic, Nonepidermolytic Epidermal Nevus, Somatic Nevus, Epidermal, Somatic Nevus Sebaceous Or Woolly Hair Nevus, Somatic Nonepidermolytic Keratinocytic Nevus Epidermal Hamartoma Syndrome Wooly Hair Nevus Keratinocytic Non-Epidermolytic Nevus KNEN Pigmented Moles Organoid Nevus Phakomatosis Nevus Sebaceous Melanocytic Nevus Melanocytic Nevus Of Skin
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Hereditary Hemorrhagic Telangiectasia	Rendu-Osler-Weber Disease Hht Osler-Weber-Rendu Disease Telangiectasia, Hereditary Hemorrhagic Osler Hemorrhagic Telangiectasia Syndrome Orw Disease Osler Weber Rendu Syndrome Osler-Rendu-Weber Disease Osler-Weber-Rendu Syndrome Rendu-Osler Disease Telangiectasia Hereditary Hemorrhagic Telangiectasia Hemorrhagic, Hereditary Hht - [Hereditary Haemorrhagic Telangiectasia] Osler Haemorrhagic Telangiectasia Syndrome
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Syndromic Intellectual Disability
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-180779	SR-1815		/	Unkown
HY-RS14089	SYNGAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20656	Syngap1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27167	Syngap1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SYNGAP1	VGNC	VGNC:65884
Mus musculus	SYNGAP1	MGD	MGI:3039785
Macaca mulatta	SYNGAP1	VGNC	VGNC:78067
Rattus norvegicus	SYNGAP1	RGD	RGD:621090
Canis familiaris	SYNGAP1	VGNC	VGNC:47031
Bos taurus	SYNGAP1	VGNC	VGNC:35523
Others	SYNGAP1	NCBI