Scube3 MGI Mouse Gene Detail - MGI:3045253 - signal peptide, CUB domain, EGF-like 3

Symbol

Scube3
Name

signal peptide, CUB domain, EGF-like 3
Synonyms

D030038I21Rik

Feature Type

protein coding gene
IDs

MGI:3045253
NCBI Gene: 268935
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr17:28361115-28393828 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 14.63 cM
Mapping Data

1 experiment

SNPs within 2kb

231 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3045253	protein coding gene	Chr17:28361074-28393828 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023433	protein coding gene	Chr17:27503328-27539716 (+)
A/J	MGP_AJ_G0023391	protein coding gene	Chr17:26623037-26656988 (+)
AKR/J	MGP_AKRJ_G0023356	protein coding gene	Chr17:26801591-26836076 (+)
BALB/cJ	MGP_BALBcJ_G0023396	protein coding gene	Chr17:26885383-26917922 (+)
C3H/HeJ	MGP_C3HHeJ_G0023157	protein coding gene	Chr17:27179773-27213191 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023838	protein coding gene	Chr17:28620700-28656487 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021313	protein coding gene	Chr17:23995825-24028495 (+)
CAST/EiJ	MGP_CASTEiJ_G0022658	protein coding gene	Chr17:27157264-27190497 (+)
CBA/J	MGP_CBAJ_G0023131	protein coding gene	Chr17:29638235-29671066 (+)
DBA/2J	MGP_DBA2J_G0023262	protein coding gene	Chr17:26175809-26208989 (+)
FVB/NJ	MGP_FVBNJ_G0023232	protein coding gene	Chr17:25969912-26004223 (+)
LP/J	MGP_LPJ_G0023340	protein coding gene	Chr17:27762982-27797848 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023250	protein coding gene	Chr17:29085853-29119227 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023880	protein coding gene	Chr17:27218321-27254072 (+)
PWK/PhJ	MGP_PWKPhJ_G0022408	protein coding gene	Chr17:24978657-25011220 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022226	protein coding gene	Chr17:25230814-25263796 (+)
WSB/EiJ	MGP_WSBEiJ_G0022720	protein coding gene	Chr17:27215960-27251268 (+)

Human Ortholog

SCUBE3, signal peptide, CUB domain and EGF like domain containing 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SCUBE3, signal peptide, CUB domain and EGF like domain containing 3
Synonyms

CEGF3, SSFSC2
Links

HGNC:13655

NCBI Gene ID: 222663

neXtProt AC: NX_Q8IX30

UniProt: Q8IX30
Chr Location

6p21.31; chr6:35213956-35253079 (+) GRCh38

MGI Vertebrate Homology

Scube3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SCUBE3
Gene Tree

Scube3

Diseases

1 with human SCUBE3 associations

				Human Disease	Mouse Models
				short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 IDs short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 DOID:0112358 OMIM:619184

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

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Phenotype Summary

69 phenotypes from 4 alleles in 4 genetic backgrounds
14 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 (ENU)

2
Endonuclease-mediated

2
Gene trapped

3
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted allele encoding a truncated protein exhibit normal morphology. Mice with a point mutation show skeletal abnormalities, bone metabolism alterations, changes in renal function, behavioral alternations and hearing loss.

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All GO Annotations

17
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

982
Tissues

142
cDNA Data

3
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN scube3

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All Sequences

48
RefSeq

10
UniProt

3
CCDS

CCDS37527.1

Ensembl

ENSMUSG00000038677 (Evidence)
NCBI Gene

268935

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038677	Ensembl Gene Model \| MGI Sequence Detail	32714	C57BL/6J	± kb
transcript	ENSMUST00000137147	Ensembl \| MGI Sequence Detail	3822	Not Applicable
polypeptide	ENSMUSP00000156515	Ensembl \| MGI Sequence Detail	1009	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000030578 signal peptide, CUB and EGF-like domain-containing protein 3

(term hierarchy)
InterPro Domains

IPR026823 Complement Clr-like EGF domain

IPR000859 CUB domain

IPR024731 EGF domain

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR049883 NOTCH1 EGF-like calcium-binding domain

IPR052071 Signal peptide, CUB and EGF-like domain-containing protein

IPR035914 Spermadhesin, CUB domain superfamily

IPR011641 Tyrosine-protein kinase ephrin type A/B receptor-like
GlyGen

Q66PY1 5 sites, 3 N-linked glycans (3 sites)

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All nucleic 3

cDNA 3

Microarray probesets 2

Summaries

All 36

Developmental Gene Expression 6

Gene Ontology 7

Phenotypes 14
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:327115 Liu Y, et al., Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state. Dev Cell. 2022 Jul 25;57(14):1758-1775.e7

TSS for Scube3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143389	Chr17:28361156-28361167 (+)	47 bp
Tssr143390	Chr17:28361241-28361295 (+)	153 bp
Tssr143391	Chr17:28366514-28366518 (+)	5,401 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 12/10/2024 MGI 6.24