Gphn MGI Mouse Gene Detail - MGI:109602

Symbol

Gphn
Name

gephyrin
Synonyms

5730552E08Rik, geph, MGC:38765

Feature Type

protein coding gene
IDs

MGI:109602
NCBI Gene: 268566
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr12:78273153-78731546 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 35.51 cM, cytoband D2
Mapping Data

3 experiments

SNPs within 2kb

8168 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109602	protein coding gene	Chr12:78264099-78731546 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019870	protein coding gene	Chr12:78466533-78946861 (+)
A/J	MGP_AJ_G0019828	protein coding gene	Chr12:75426381-76115909 (+)
AKR/J	MGP_AKRJ_G0019803	protein coding gene	Chr12:77721244-78179846 (+)
BALB/cJ	MGP_BALBcJ_G0019807	protein coding gene	Chr12:75897995-76364006 (+)
C3H/HeJ	MGP_C3HHeJ_G0019613	protein coding gene	Chr12:78173249-78640634 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020259	protein coding gene	Chr12:80804228-81282386 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017877	protein coding gene	Chr12:72722944-73142563 (+)
CAST/EiJ	MGP_CASTEiJ_G0019163	protein coding gene	Chr12:73002088-73471131 (+)
CBA/J	MGP_CBAJ_G0019583	protein coding gene	Chr12:83915680-84457618 (+)
DBA/2J	MGP_DBA2J_G0019699	protein coding gene	Chr12:75291462-75742539 (+)
FVB/NJ	MGP_FVBNJ_G0019685	protein coding gene	Chr12:74109636-74554088 (+)
LP/J	MGP_LPJ_G0019771	protein coding gene	Chr12:78403308-78878539 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019724	protein coding gene	Chr12:86895151-87497099 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020295	protein coding gene	Chr12:77223729-77687514 (+)
PWK/PhJ	MGP_PWKPhJ_G0018930	protein coding gene	Chr12:69640171-70088695 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018723	protein coding gene	Chr12:71704272-72193866 (+)
WSB/EiJ	MGP_WSBEiJ_G0019216	protein coding gene	Chr12:77816846-78292843 (+)

Human Ortholog

GPHN, gephyrin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GPHN, gephyrin
Synonyms

GEPH, GPH, GPHRYN, HKPX1, MOCODC
Links

HGNC:15465

NCBI Gene ID: 10243

neXtProt AC: NX_Q9NQX3

UniProt: Q9NQX3
Chr Location

14q23.3-q24.1; chr14:66507407-67735355 (+) GRCh38

MGI Vertebrate Homology

Gphn stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: GPHN
Gene Tree

Gphn

Diseases

2 with human GPHN associations

				Human Disease	Mouse Models
				inherited metabolic disorder IDs inherited metabolic disorder DOID:655 MESH:D008661 NCI:C34816 UMLS_CUI:C0025521
				molybdenum cofactor deficiency type C IDs molybdenum cofactor deficiency type C DOID:0111166 MESH:C565374 OMIM:615501 ORDO:308400 UMLS_CUI:C1854990

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

15 phenotypes from 2 alleles in 3 genetic backgrounds
21 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

5
Targeted

2
Genomic Mutations

1 involving Gphn
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

89 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruption of this gene die within one day of birth, apparently due to an inability to suckle. Apnea also develops within 12 hours of birth.

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All GO Annotations

71
GO References

23

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

846
Tissues

62
cDNA Data

12
Literature Summary

41

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gphn

ZFIN gphna, gphnb

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All Sequences

109
RefSeq

58
UniProt

5
CCDS

CCDS26000.1, CCDS49095.1

Ensembl

ENSMUSG00000047454 (Evidence)
NCBI Gene

268566

			Length	Strain/Species	Flank
genomic	ENSMUSG00000047454	Ensembl Gene Model \| MGI Sequence Detail	458394	C57BL/6J	± kb
transcript	ENSMUST00000110388	Ensembl \| MGI Sequence Detail	3300	Not Applicable
polypeptide	ENSMUSP00000106018	Ensembl \| MGI Sequence Detail	772	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000008174 gephyrin

(term hierarchy)
EC

2.10.1.1, 2.7.7.75
InterPro Domains

IPR001453 MoaB/Mog domain

IPR036425 MoaB/Mog-like domain superfamily

IPR005111 MoeA, C-terminal, domain IV

IPR036688 MoeA, C-terminal, domain IV superfamily

IPR005110 MoeA, N-terminal and linker domain

IPR036135 MoeA, N-terminal and linker domain superfamily

IPR008284 Molybdenum cofactor biosynthesis, conserved site

IPR038987 Molybdopterin biosynthesis protein MoeA-like
GlyGen

Q8BUV3 4 sites, 1 O-linked glycan (4 sites)

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All nucleic 16

Genomic 1

cDNA 14

Primer pair 1

Microarray probesets 6

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MGD-MRK-39601, MGI:1917919, MGI:2144880, MGI:2384824

Summaries

All 116

Developmental Gene Expression 41

Gene Ontology 23

Phenotypes 21
Earliest

J:39354 Ramming M, et al., Analysis of the promoter region of the murine gephyrin gene. FEBS Lett. 1997 Mar 24;405(2):137-40
Latest

J:355330 Neumann E, et al., gamma1 GABA(A) Receptors in Spinal Nociceptive Circuits. J Neurosci. 2024 Oct 9;44(41)

TSS for Gphn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114037	Chr12:78273123-78273134 (+)	-24 bp
Tssr114038	Chr12:78273144-78273188 (+)	13 bp
Tssr114039	Chr12:78273192-78273193 (+)	40 bp
Tssr114040	Chr12:78273203-78273214 (+)	56 bp
Tssr114041	Chr12:78273360-78273394 (+)	224 bp
Tssr114042	Chr12:78273401-78273426 (+)	261 bp
Tssr114043	Chr12:78273443-78273454 (+)	296 bp
Tssr114044	Chr12:78273459-78273484 (+)	319 bp
Tssr114045	Chr12:78273486-78273547 (+)	364 bp
Tssr114046	Chr12:78274333-78274336 (+)	1,182 bp
Tssr114047	Chr12:78277272-78277276 (+)	4,121 bp
Tssr114049	Chr12:78350414-78350433 (+)	77,271 bp
Tssr114050	Chr12:78397680-78397703 (+)	124,539 bp
Tssr114051	Chr12:78397809-78397846 (+)	124,675 bp
Tssr114052	Chr12:78403505-78403522 (+)	130,361 bp
Tssr114053	Chr12:78403551-78403558 (+)	130,402 bp
Tssr114054	Chr12:78528091-78528097 (+)	254,941 bp
Tssr114055	Chr12:78533636-78533642 (+)	260,486 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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