Shoc2 MGI Mouse Gene Detail - MGI:1927197 - Shoc2, leucine rich repeat scaffold protein

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Shoc2 Gene Detail

Symbol

Shoc2
Name

Shoc2, leucine rich repeat scaffold protein
Synonyms

mKIAA0862, soc-2 (suppressor of clear) homolog (C. elegans), Sur-8

Feature Type

protein coding gene
IDs

MGI:1927197
NCBI Gene: 56392
Alliance

gene page
Transcription Start Sites

7 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr19:53932737-54021564 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 48.83 cM
Mapping Data

3 experiments

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SNPs within 2kb

1742 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1927197	protein coding gene	Chr19:53932018-54021711 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025252	protein coding gene	Chr19:54125923-54226304 (+)
A/J	MGP_AJ_G0025228	protein coding gene	Chr19:51462000-51552475 (+)
AKR/J	MGP_AKRJ_G0025197	protein coding gene	Chr19:53086152-53173251 (+)
BALB/cJ	MGP_BALBcJ_G0025223	protein coding gene	Chr19:51548264-51638263 (+)
C3H/HeJ	MGP_C3HHeJ_G0024983	protein coding gene	Chr19:53303765-53396546 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025666	protein coding gene	Chr19:55425380-55529785 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023078	protein coding gene	Chr19:50449239-50534185 (+)
CAST/EiJ	MGP_CASTEiJ_G0024448	protein coding gene	Chr19:53271107-53362021 (+)
CBA/J	MGP_CBAJ_G0024963	protein coding gene	Chr19:58197444-58299786 (+)
DBA/2J	MGP_DBA2J_G0025095	protein coding gene	Chr19:51273378-51364722 (+)
FVB/NJ	MGP_FVBNJ_G0025056	protein coding gene	Chr19:50989276-51081545 (+)
LP/J	MGP_LPJ_G0025181	protein coding gene	Chr19:54013514-54110065 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025089	protein coding gene	Chr19:57615745-57712053 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025724	protein coding gene	Chr19:53279709-53372963 (+)
PWK/PhJ	MGP_PWKPhJ_G0024196	protein coding gene	Chr19:51180547-51273359 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023999	protein coding gene	Chr19:51955339-52056824 (+)
WSB/EiJ	MGP_WSBEiJ_G0024518	protein coding gene	Chr19:53407916-53502324 (+)

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Human Ortholog

SHOC2, SHOC2 leucine rich repeat scaffold protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SHOC2, SHOC2 leucine rich repeat scaffold protein
Synonyms

NSLH1, SIAA0862, SOC2, SUR8
Links

HGNC:15454

NCBI Gene ID: 8036

neXtProt AC: NX_Q9UQ13

UniProt: Q9UQ13
Chr Location

10q25.2; chr10:110919367-111017307 (+) GRCh38

MGI Vertebrate Homology

Shoc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SHOC2
Gene Tree

Shoc2

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Diseases

2 with human SHOC2 associations

				Human Disease	Mouse Models
				atopic dermatitis IDs atopic dermatitis DOID:3310 EFO:0000274 ICD10CM:L20 MESH:D003876 OMIM:603165 OMIM:PS603165 UMLS_CUI:C0011615
				Noonan syndrome-like disorder with loose anagen hair 1 IDs Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 OMIM:607721

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

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Phenotype Summary

19 phenotypes from 2 alleles in 3 genetic backgrounds
9 phenotype references

Phenotype Overview

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

30
Gene trapped

26
Targeted

4
Find Mice (IMSR)

43 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Shoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality.

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All GO Annotations

33
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

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

737
Tissues

7
cDNA Data

106
Literature Summary

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase shoc2

ZFIN shoc2

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All Sequences

62
RefSeq

14
UniProt

4
CCDS

CCDS29904.1

Ensembl

ENSMUSG00000024976 (Evidence)
NCBI Gene

56392

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000024976	Ensembl Gene Model \| MGI Sequence Detail	88828	C57BL/6J	± kb
	transcript	ENSMUST00000025932	Ensembl \| MGI Sequence Detail	3965	Not Applicable
	polypeptide	ENSMUSP00000025932	Ensembl \| MGI Sequence Detail	582	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000032078 leucine-rich repeat protein SHOC-2

(term hierarchy)
InterPro Domains

IPR001611 Leucine-rich repeat

IPR025875 Leucine rich repeat 4

IPR050216 Leucine-rich repeat domain-containing protein

IPR032675 Leucine-rich repeat domain superfamily

IPR003591 Leucine-rich repeat, typical subtype

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All nucleic 106

cDNA 106

Microarray probesets 5

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MGI:2147642

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Summaries

All 39

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 9
Earliest

J:48584 Sieburth DS, et al., SUR-8, a conserved Ras-binding protein with leucine-rich repeats, positively regulates Ras-mediated signaling in C. elegans. Cell. 1998 Jul 10;94(1):119-30
Latest

J:332394 Tan M, et al., The Sag-Shoc2 axis regulates conversion of mPanINs to cystic lesions in Kras pancreatic tumor model. Cell Rep. 2022 Dec 20;41(12):111837

TSS for Shoc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr157049	Chr19:53932494-53932527 (+)	-226 bp
Tssr157050	Chr19:53933271-53933298 (+)	548 bp
Tssr157051	Chr19:53933301-53933338 (+)	583 bp
Tssr157052	Chr19:53934347-53934349 (+)	1,611 bp
Tssr157053	Chr19:53938466-53938483 (+)	5,738 bp
Tssr157054	Chr19:53938821-53938866 (+)	6,107 bp
Tssr157055	Chr19:54008812-54008817 (+)	76,078 bp

Shoc2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Alcdp2	Chr19, syntenic		J:98587	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to 6 previously identified alcohol-related QTLs to identify potential candidate genes. Two different Affymetrix microarrays were used in the analysis. Brain expression data from parental strains and 56 (DBA/2J x C57BL/6J)F2 intercross animals were used for analysis. On mouse Chromosome 19, candidate genes for Alcdp2 at 40 cM were identified with modest priority status. These candidate genes are Scd1 (43 cM), Shoc2, Prdx3 (50 cM), and 3 other yet unidentified expressed sequences (ESTs).

*cM position of peak correlated region/marker

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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