1. Gene
  2. GPHN - gephyrin Gene

GPHN - gephyrin Gene

Homo sapiens

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

Gene ID: 10243 | Gene type: protein coding

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

GPHN Protein Structure

MoCF_biosynth

MoCF_biosynth: Probable molybdopterin binding domain (18 - 164)

MoeA_N

MoeA_N: MoeA N-terminal region (domain I and II) (324 - 489)

MoCF_biosynth

MoCF_biosynth: Probable molybdopterin binding domain (502 - 645)

MoeA_C

MoeA_C: MoeA C-terminal region (domain IV) (658 - 732)

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  • 736 a.a.
Protein Preferred Names Protein Names

gephyrin

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

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