GPHN - gephyrin Gene

Also Known as GPH; GEPH; HKPX1; GPHRYN; MOCODC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10243

About GPHN

Cytogenetic location: 14q23.3-q24.1 Genomic coordinates (GRCh38): 14:66,508,147-67,735,355 (from NCBI)

This gene has 16 transcripts (splice variants), 243 orthologues and is associated with 91 phenotypes. Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues.

Summary

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic Cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

GPHN Products (8)

mRNA	Protein	Name
NM_001024218.2	NP_001019389.1	gephyrin isoform 2
NM_001377514.1	NP_001364443.1	gephyrin isoform 3
NM_001377515.1	NP_001364444.1	gephyrin isoform 4
NM_001377516.1	NP_001364445.1	gephyrin isoform 5
NM_001377517.1	NP_001364446.1	gephyrin isoform 6
NM_001377518.1	NP_001364447.1	gephyrin isoform 7
NM_001377519.1	NP_001364448.1	gephyrin isoform 8
NM_020806.5	NP_065857.1	gephyrin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	25025157	GOA
enables molybdopterin cofactor binding	IDA IDA: Inferred from direct assay	9990024	GOA
enables nitrate reductase activity	IMP IMP: Inferred from mutant phenotype	9990024	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21094642	GOA
enables protein-macromolecule adaptor activity	IMP IMP: Inferred from mutant phenotype	25025157	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in gamma-aminobutyric acid receptor clustering	IDA IDA: Inferred from direct assay	26613940	GOA
involved in gamma-aminobutyric acid receptor clustering	IMP IMP: Inferred from mutant phenotype	25025157	GOA
involved in molybdopterin cofactor biosynthetic process	IDA IDA: Inferred from direct assay	26613940	GOA
involved in molybdopterin cofactor biosynthetic process	IMP IMP: Inferred from mutant phenotype	9990024	GOA
involved in response to metal ion	IMP IMP: Inferred from mutant phenotype	9990024	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in dendrite	IDA IDA: Inferred from direct assay	26613940	GOA
is active in dendritic spine	IDA IDA: Inferred from direct assay	25025157	GOA
is active in postsynaptic membrane	IDA IDA: Inferred from direct assay	25025157	GOA
located in postsynaptic membrane	IDA IDA: Inferred from direct assay	26613940	GOA
located in synaptic membrane	IDA IDA: Inferred from direct assay	25025157	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

GPHN Protein Structure

MoCF_biosynth

MoeA_N

MoCF_biosynth

MoeA_C

0
200
400
600
736 a.a.

Protein Preferred Names	Protein Names
gephyrin

GPHN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GPHN	Q9NQX3	DYNLL1	Homo sapiens	P63167	NMR	21094642

Cross: Cross-species interaction Intra: Intraspecies interaction

GPHN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82501	Gephyrin Antibody (YA2246)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Molybdenum Cofactor Deficiency, Complementation Group C	MOCODC Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C Molybdenum Cofactor Deficiency C Molybdenum Cofactor Deficiency Type C Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C Mocod Type C Molybdenum Cofactor Deficiency Complementation Group C Deficiency, Molybdenum Cofactor, Complementation Group C
Arachnoid Cysts, Intracranial	Arachnoid Cyst Arachnoid Cysts Intracranial Arachnoid Cysts Arachnoid Brain Cyst Arachnoid Cerebral Cyst Intracranium Cyst Nos
Hyperekplexia 1	HKPX1 Exaggerated Startle Reaction Sthe Stiff-Baby Syndrome Kok Disease Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Startle Disease Hereditary Hyperexplexia 1 Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive Hyperekplexia Hereditary Hyperexplexia Stiff-Person Syndrome
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Glycosylphosphatidylinositol Biosynthesis Defect 17	GPIBD17 Glycosylphosphatidylinositol Biosynthesis Defect, Type 17
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome RDJCSS Retinal Dystrophy-Juvenile Cataract-Short Stature Syndrome Dystrophy, Retinal, Juvenile Cataracts, And Short Stature Syndrome
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Molybdenum Cofactor Deficiency	Combined Molybdoflavoprotein Enzyme Deficiency Mocod Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency Deficiency Of Molybdenum Cofactor Deficiency, Molybdenum Cofactor
Stiff-Person Syndrome	SPS Stiff-Man Syndrome Stiff Man Syndrome Stiff Person Syndrome Moersch-Woltman Syndrome Sms Stiff-Trunk Syndrome Morsch Woltman Syndrome Stiff Person Syndrome And Related Disorders Stiff Person Spectrum Disorder Classic Stiff Person Syndrome Classic Sps Focal Stiff Limb Syndrome Focal Stiff-Person Syndrome Stiff Leg Syndrome Progressive Encephalomyelitis With Rigidity
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Sulfite Oxidase Deficiency, Isolated	Sulfite Oxidase Deficiency Sulfocysteinuria Isolated Sulfite Oxidase Deficiency ISOD Encephalopathy Due To Sulfite Oxidase Deficiency
Hyperekplexia 2	HKPX2 Autosomal Recessive Hyperekplexia 2 Hyperekplexia, Type 2
Retinitis Pigmentosa 84	RP84 Retinitis Pigmentosa, Type 84
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
Molybdenum Cofactor Deficiency, Complementation Group A	MOCODA Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A Molybdenum Cofactor Deficiency A Molybdenum Cofactor Deficiency Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A Mocod Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of Molybdenum Cofactor Deficiency Complementation Group A Molybdenum Cofactor Deficiency, Type A Deficiency, Molybdenum Cofactor, Complementation Group A
Herpes Zoster Oticus	Nervus Intermedius Neuralgia Ramsay Hunt Syndrome Type 2 Geniculate Herpes Zoster Geniculate Neuralgia Herpes Zoster Auricularis Herpetic Geniculate Ganglionitis Ramsay Hunt Syndrome Type Ii Ramsey Hunt Syndrome Facial Nerve Palsy Due To Vzv Facial Nerve Palsy Due To Herpes Zoster Infection Facial Nerve Paralysis Due To Vzv Hunt Syndrome Hunt'S Syndrome Ramsay Hunt Syndrome Myoclonus And Ataxia
Molybdenum Cofactor Deficiency, Complementation Group B	MOCODB Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B Molybdenum Cofactor Deficiency B Molybdenum Cofactor Deficiency Type B Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B Mocod Type B Molybdenum Cofactor Deficiency Complementation Group B Deficiency, Molybdenum Cofactor, Complementation Group B
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
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
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05638	GPHN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GPHN	MGD	MGI:109602
Rattus norvegicus	GPHN	RGD	RGD:69194
Canis familiaris	GPHN	VGNC	VGNC:41380
Bos taurus	GPHN	VGNC	VGNC:54436
Macaca mulatta	GPHN	VGNC	VGNC:72948
Felis catus	GPHN	VGNC	VGNC:62666
Others	GPHN	NCBI