Gemin4 MGI Mouse Gene Detail - MGI:2449313 - gem nuclear organelle associated protein 4

Symbol

Gemin4
Name

gem nuclear organelle associated protein 4
Synonyms

MGC:28146

Feature Type

protein coding gene
IDs

MGI:2449313
NCBI Gene: 276919
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr11:76101397-76108398 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 45.92 cM
Mapping Data

2 experiments

SNPs within 2kb

40 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2449313	protein coding gene	Chr11:76101397-76108490 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018730	protein coding gene	Chr11:77030377-77039879 (-)
A/J	MGP_AJ_G0018696	protein coding gene	Chr11:74153955-74161474 (-)
AKR/J	MGP_AKRJ_G0018666	protein coding gene	Chr11:76396380-76408731 (-)
BALB/cJ	MGP_BALBcJ_G0018670	protein coding gene	Chr11:74543871-74544309 (-)
C3H/HeJ	MGP_C3HHeJ_G0018483	protein coding gene	Chr11:76416704-76423787 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019121	protein coding gene	Chr11:79438076-79445163 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016756	protein coding gene	Chr11:71151921-71158951 (-)
CAST/EiJ	MGP_CASTEiJ_G0018037	protein coding gene	Chr11:76812676-76819972 (-)
CBA/J	MGP_CBAJ_G0018453	protein coding gene	Chr11:82932346-82942083 (-)
DBA/2J	MGP_DBA2J_G0018562	protein coding gene	Chr11:73750723-73758289 (-)
FVB/NJ	MGP_FVBNJ_G0018552	protein coding gene	Chr11:73303015-73310791 (-)
LP/J	MGP_LPJ_G0018633	protein coding gene	Chr11:77607089-77615193 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018578	protein coding gene	Chr11:83429039-83436128 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019161	protein coding gene	Chr11:76597697-76604417 (-)
PWK/PhJ	MGP_PWKPhJ_G0017808	protein coding gene	Chr11:74469230-74477708 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017599	protein coding gene	Chr11:76167523-76167975 (-)
WSB/EiJ	MGP_WSBEiJ_G0018090	protein coding gene	Chr11:76418547-76425300 (-)

Human Ortholog

GEMIN4, gem nuclear organelle associated protein 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GEMIN4, gem nuclear organelle associated protein 4
Synonyms

HC56, HCAP1, HHRF-1, NEDMCR, p97
Links

HGNC:15717

NCBI Gene ID: 50628

neXtProt AC: NX_P57678

UniProt: P57678
Chr Location

17p13.3; chr17:744421-754410 (-) GRCh38

MGI Vertebrate Homology

Gemin4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GEMIN4
Gene Tree

Gemin4

Diseases

2 with human GEMIN4 associations

				Human Disease	Mouse Models
				alcohol dependence IDs alcohol dependence DOID:0050741 KEGG:05034 OMIM:103780
				neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities IDs neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 OMIM:617913

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

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Phenotype Summary

7 phenotypes from 2 alleles in 2 genetic backgrounds
15 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

6
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

1
Targeted

3
Genomic Mutations

2 involving Gemin4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trap allele die before E5.5.

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All GO Annotations

10
GO References

3

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	non-membrane-bounded 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

718
Tissues

6
cDNA Data

11
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gemin4

ZFIN gemin4

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All Sequences

40
RefSeq

2
UniProt

3
CCDS

CCDS25061.1

Ensembl

ENSMUSG00000049396 (Evidence)
NCBI Gene

276919

			Length	Strain/Species	Flank
genomic	276919	NCBI Gene Model \| MGI Sequence Detail	7002	C57BL/6J	± kb
transcript	NM_177367	RefSeq \| MGI Sequence Detail	3448	C57BL/6
polypeptide	NP_796341	RefSeq \| MGI Sequence Detail	1058	C57BL/6

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UniProt

3 Sequences
InterPro Domains

IPR033265 Gem-associated protein 4

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All nucleic 12

cDNA 12

Microarray probesets 3

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MGI:2144371

Summaries

All 38

Developmental Gene Expression 2

Gene Ontology 3

Phenotypes 15
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:319558 Bizen N, et al., Ddx20, an Olig2 binding factor, governs the survival of neural and oligodendrocyte progenitor cells via proper Mdm2 splicing and p53 suppression. Cell Death Differ. 2022;

TSS for Gemin4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr109245	Chr11:76108316-76108417 (-)	31 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23