Irf2bpl MGI Mouse Gene Detail - MGI:2442463 - interferon regulatory factor 2 binding protein-like

Symbol

Irf2bpl
Name

interferon regulatory factor 2 binding protein-like
Synonyms

6430527G18Rik

Feature Type

protein coding gene
IDs

MGI:2442463
NCBI Gene: 238330
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr12:86927475-86931572 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 41.06 cM
Mapping Data

2 experiments

SNPs within 2kb

110 from dbSNP Build 142
Strain Annotations

7

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2442463	protein coding gene	Chr12:86927475-86931588 (-)
129S1/SvImJ	no annotation
A/J	MGP_AJ_G0019931	protein coding gene	Chr12:84423137-84427308 (-)
AKR/J	no annotation
BALB/cJ	no annotation
C3H/HeJ	no annotation
C57BL/6NJ	MGP_C57BL6NJ_G0020362	protein coding gene	Chr12:90279078-90287941 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017980	protein coding gene	Chr12:81304982-81309086 (-)
CAST/EiJ	no annotation
CBA/J	MGP_CBAJ_G0019688	protein coding gene	Chr12:93758587-93763037 (-)
DBA/2J	no annotation
FVB/NJ	no annotation
LP/J	no annotation
NOD/ShiLtJ	no annotation
NZO/HlLtJ	no annotation
PWK/PhJ	MGP_PWKPhJ_G0019030	protein coding gene	Chr12:78463267-78467296 (-)
SPRET/EiJ	no annotation
WSB/EiJ	MGP_WSBEiJ_G0019319	protein coding gene	Chr12:87076972-87080351 (-)

Human Ortholog

IRF2BPL, interferon regulatory factor 2 binding protein like

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

IRF2BPL, interferon regulatory factor 2 binding protein like
Synonyms

C14orf4, EAP1, NEDAMSS
Links

HGNC:14282

NCBI Gene ID: 64207

neXtProt AC: NX_Q9H1B7

UniProt: Q9H1B7
Chr Location

14q24.3; chr14:77024543-77028708 (-) GRCh38

MGI Vertebrate Homology

Irf2bpl stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: IRF2BPL
Gene Tree

Irf2bpl

Diseases

1 with human IRF2BPL associations

				Human Disease	Mouse Models
				neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures IDs neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 OMIM:618088

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

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Phenotype Summary

3 phenotypes from 2 alleles in 2 genetic backgrounds
9 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

12
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

7
Targeted

1
Genomic Mutations

1 involving Irf2bpl
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

18
GO References

7

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

706
cDNA Data

127

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase irf2bpl

ZFIN irf2bpl

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All Sequences

40
RefSeq

2
UniProt

1
CCDS

CCDS26068.1

Ensembl

ENSMUSG00000034168 (Evidence)
NCBI Gene

238330

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034168	Ensembl Gene Model \| MGI Sequence Detail	4098	C57BL/6J	± kb
transcript	ENSMUST00000038422	Ensembl \| MGI Sequence Detail	4098	Not Applicable
polypeptide	ENSMUSP00000041070	Ensembl \| MGI Sequence Detail	775	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000006864 enhanced at puberty protein 1

(term hierarchy)
EC

2.3.2.27
InterPro Domains

IPR044882 Interferon regulatory factor 2-binding protein 1/2, C3HC4-type RING finger superfamily

IPR022750 Interferon regulatory factor 2-binding protein 1 & 2, zinc finger
GlyGen

Q8K3X4 6 sites, 1 O-linked glycan (6 sites)

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All nucleic 127

cDNA 127

Microarray probesets 8

Summaries

All 34

Gene Ontology 7

Phenotypes 9
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Irf2bpl:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr117139	Chr12:86932634-86932660 (-)	-1,075 bp
Tssr117138	Chr12:86931620-86931632 (-)	-54 bp
Tssr117137	Chr12:86931582-86931616 (-)	-27 bp
Tssr117136	Chr12:86931530-86931580 (-)	17 bp
Tssr117135	Chr12:86931490-86931524 (-)	65 bp
Tssr117134	Chr12:86931477-86931488 (-)	89 bp
Tssr117133	Chr12:86931240-86931249 (-)	327 bp
Tssr117132	Chr12:86931175-86931187 (-)	391 bp
Tssr3903	Chr12:86930844-86930855 (-)	722 bp
Tssr117131	Chr12:86930719-86930808 (-)	808 bp
Tssr117130	Chr12:86930686-86930701 (-)	878 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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