Exph5 MGI Mouse Gene Detail - MGI:2443248

Symbol

Exph5
Name

exophilin 5
Synonyms

AC079869.22gm5, B130009M24Rik, slac2-b, Slac2b

Feature Type

protein coding gene
IDs

MGI:2443248
NCBI Gene: 320051
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr9:53212970-53288814 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 29.12 cM
Mapping Data

2 experiments

SNPs within 2kb

2117 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443248	protein coding gene	Chr9:53212814-53292466 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034808	protein coding gene	Chr9:52311977-52396822 (+)
A/J	MGP_AJ_G0034789	protein coding gene	Chr9:50670675-50749816 (+)
AKR/J	MGP_AKRJ_G0034717	protein coding gene	Chr9:51765071-51845856 (+)
BALB/cJ	MGP_BALBcJ_G0034781	protein coding gene	Chr9:50420992-50501382 (+)
C3H/HeJ	MGP_C3HHeJ_G0034491	protein coding gene	Chr9:52246956-52327774 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035300	protein coding gene	Chr9:53789332-53873616 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032213	protein coding gene	Chr9:50067582-50144879 (+)
CAST/EiJ	MGP_CASTEiJ_G0033813	protein coding gene	Chr9:52241521-52322068 (+)
CBA/J	MGP_CBAJ_G0034462	protein coding gene	Chr9:55613675-55698066 (+)
DBA/2J	MGP_DBA2J_G0034621	protein coding gene	Chr9:50552447-50627734 (+)
FVB/NJ	MGP_FVBNJ_G0034563	protein coding gene	Chr9:49731247-49808288 (+)
LP/J	MGP_LPJ_G0034703	protein coding gene	Chr9:52621274-52703668 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034606	protein coding gene	Chr9:57197539-57281773 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035322	protein coding gene	Chr9:51764505-51852665 (+)
PWK/PhJ	MGP_PWKPhJ_G0033517	protein coding gene	Chr9:50527269-50604714 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033353	protein coding gene	Chr9:52040245-52129598 (+)
WSB/EiJ	MGP_WSBEiJ_G0033925	protein coding gene	Chr9:51766364-51846919 (+)

Human Ortholog

EXPH5, exophilin 5

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EXPH5, exophilin 5
Synonyms

EBS4, SLAC2-B, SLAC2B
Links

HGNC:30578

NCBI Gene ID: 23086

neXtProt AC: NX_Q8NEV8

UniProt: Q8NEV8
Chr Location

11q22.3; chr11:108505435-108607536 (-) GRCh38

MGI Vertebrate Homology

Exph5 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: EXPH5
Gene Tree

Exph5

Diseases

1 with human EXPH5 associations

				Human Disease	Mouse Models
				epidermolysis bullosa simplex IDs epidermolysis bullosa simplex DOID:4644 ICD10CM:Q81.0 MESH:D016110 NCI:C84692 OMIM:601001 OMIM:615425 ORDO:304 UMLS_CUI:C0079298

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

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Phenotype Summary

14 phenotypes from 2 alleles in 2 genetic backgrounds
1 phenotype from multigenic genotypes
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

6
Endonuclease-mediated

2
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

59 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit increased allergic airway inflammation.

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All GO Annotations

18
GO References

5

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

14

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

43
RefSeq

10
UniProt

1
CCDS

CCDS23181.1

Ensembl

ENSMUSG00000034584 (Evidence)
NCBI Gene

320051

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034584	Ensembl Gene Model \| MGI Sequence Detail	75845	C57BL/6J	± kb
transcript	ENSMUST00000051014	Ensembl \| MGI Sequence Detail	5957	Not Applicable
polypeptide	ENSMUSP00000062632	Ensembl \| MGI Sequence Detail	1960	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007267 exophilin-5

(term hierarchy)
InterPro Domains

IPR039916 Exophilin-5

IPR010911 Rab-binding domain
GlyGen

Q0VAV2 2 sites, 2 N-linked glycans (2 sites)

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All nucleic 17

Genomic 1

cDNA 16

Microarray probesets 2

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MGI:2158493

Summaries

All 33

Gene Ontology 5

Phenotypes 9
Earliest

J:75312 Kuroda TS, et al., The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. J Biol Chem. 2002 Mar 15;277(11):9212-8
Latest

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

TSS for Exph5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr85119	Chr9:53212806-53212821 (+)	-156 bp
Tssr85120	Chr9:53212871-53212899 (+)	-85 bp
Tssr85121	Chr9:53233031-53233042 (+)	20,067 bp
Tssr85122	Chr9:53233045-53233052 (+)	20,079 bp
Tssr85123	Chr9:53244502-53244510 (+)	31,536 bp
Tssr85124	Chr9:53251931-53251946 (+)	38,969 bp
Tssr85125	Chr9:53252360-53252380 (+)	39,400 bp
Tssr85126	Chr9:53252382-53252401 (+)	39,422 bp
Tssr85127	Chr9:53252509-53252526 (+)	39,548 bp
Tssr85128	Chr9:53252527-53252542 (+)	39,565 bp
Tssr85129	Chr9:53252554-53252598 (+)	39,606 bp
Tssr85130	Chr9:53252641-53252652 (+)	39,677 bp
Tssr85131	Chr9:53253106-53253112 (+)	40,139 bp
Tssr85132	Chr9:53278942-53278954 (+)	65,978 bp
Tssr85133	Chr9:53278979-53278992 (+)	66,016 bp
Tssr85134	Chr9:53279034-53279056 (+)	66,075 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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