Srebf2 MGI Mouse Gene Detail - MGI:107585 - sterol regulatory element binding factor 2

Symbol

Srebf2
Name

sterol regulatory element binding factor 2
Synonyms

bHLHd2, lop13, nuc, SREBP2, SREBP-2, SREBP2gc

Feature Type

protein coding gene
IDs

MGI:107585
NCBI Gene: 20788
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr15:82031455-82089580 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 38.49 cM
Mapping Data

10 experiments

SNPs within 2kb

270 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107585	protein coding gene	Chr15:82031382-82089580 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022135	protein coding gene	Chr15:82638529-82701334 (+)
A/J	MGP_AJ_G0022095	protein coding gene	Chr15:79714151-79772609 (+)
AKR/J	MGP_AKRJ_G0022071	protein coding gene	Chr15:81923441-81981438 (+)
BALB/cJ	MGP_BALBcJ_G0022101	protein coding gene	Chr15:79764467-79822650 (+)
C3H/HeJ	MGP_C3HHeJ_G0021872	protein coding gene	Chr15:81940105-82001206 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022544	protein coding gene	Chr15:85878021-85937857 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020073	protein coding gene	Chr15:76153371-76213463 (+)
CAST/EiJ	MGP_CASTEiJ_G0021392	protein coding gene	Chr15:82734984-82796827 (+)
CBA/J	MGP_CBAJ_G0021837	protein coding gene	Chr15:88562302-88625568 (+)
DBA/2J	MGP_DBA2J_G0021965	protein coding gene	Chr15:79187595-79245993 (+)
FVB/NJ	MGP_FVBNJ_G0021942	protein coding gene	Chr15:78243895-78305871 (+)
LP/J	MGP_LPJ_G0022034	protein coding gene	Chr15:82785125-82844416 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021963	protein coding gene	Chr15:93474220-93536166 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022558	protein coding gene	Chr15:82032806-82095067 (+)
PWK/PhJ	MGP_PWKPhJ_G0021134	protein coding gene	Chr15:79238327-79299646 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020973	protein coding gene	Chr15:81816884-81875606 (+)
WSB/EiJ	MGP_WSBEiJ_G0021443	protein coding gene	Chr15:82448084-82509589 (+)

Human Ortholog

SREBF2, sterol regulatory element binding transcription factor 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SREBF2, sterol regulatory element binding transcription factor 2
Synonyms

bHLHd2, SREBP2, SREBP-2
Links

HGNC:11290

NCBI Gene ID: 6721

neXtProt AC: NX_Q12772

UniProt: Q12772
Chr Location

22q13.2; chr22:41833105-41907306 (+) GRCh38

MGI Vertebrate Homology

Srebf2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SREBF2
Gene Tree

Srebf2

Diseases

6 with human SREBF2 associations

				Human Disease	Mouse Models
				carotid artery disease IDs carotid artery disease DOID:3407 MESH:D002340 NCI:C84476 UMLS_CUI:C0007273
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358
				sarcoma IDs sarcoma DOID:1115 DOID:3936 ICD10CM:C49 ICD9CM:171 ICD9CM:171.9 UMLS_CUI:C0153519
				type 1 diabetes mellitus IDs type 1 diabetes mellitus DOID:9744 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 UMLS_CUI:C0011854
				type 2 diabetes mellitus IDs type 2 diabetes mellitus DOID:9352 ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 UMLS_CUI:C0011860
				vascular dementia IDs vascular dementia DOID:8725 DOID:13915 ICD10CM:F01 ICD9CM:290.4 MESH:D015140 MESH:D015161 NCI:C34522 NCI:C34525 UMLS_CUI:C0011263 UMLS_CUI:C0011269

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

References

1 with disease annotations

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Phenotype Summary

15 phenotypes from 3 alleles in 4 genetic backgrounds
3 images
38 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

40
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

30
Radiation induced

2
Spontaneous

1
Targeted

2
Genomic Mutations

3 involving Srebf2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

76 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display prenatal lethality. Mice homozygous for an ENU mutation display cataracts and persistent wounds of the skin.

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All GO Annotations

55
GO References

18

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

828
Tissues

89
cDNA Data

15
Literature Summary

20

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SREBF2

Xenbase srebf2

ZFIN srebf2

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All Sequences

74
RefSeq

4
UniProt

4
CCDS

CCDS27683.1

Ensembl

ENSMUSG00000022463 (Evidence)
NCBI Gene

20788

			Length	Strain/Species	Flank
genomic	20788	NCBI Gene Model \| MGI Sequence Detail	58126	C57BL/6J	± kb
transcript	NM_001411792	RefSeq \| MGI Sequence Detail	5304	C57BL/6
polypeptide	Q3U1N2	UniProt \| EBI \| MGI Sequence Detail	1130	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000015612 sterol regulatory element-binding protein 2

(term hierarchy)
InterPro Domains

IPR036638 Helix-loop-helix DNA-binding domain superfamily

IPR003006 Immunoglobulin/major histocompatibility complex, conserved site

IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain

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All nucleic 20

cDNA 18

Primer pair 2

Microarray probesets 5

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MGD-MRK-11854, MGD-MRK-12947, MGD-MRK-36157, MGI:2146048, MGI:96806

Summaries

All 159

Developmental Gene Expression 20

Diseases 1

Gene Ontology 18

Phenotypes 38
Earliest

J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
Latest

J:343423 Muta Y, et al., Enhanced SREBP2-driven cholesterol biosynthesis by PKClambda/iota deficiency in intestinal epithelial cells promotes aggressive serrated tumorigenesis. Nat Commun. 2023 Dec 13;14(1):8075

TSS for Srebf2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr132347	Chr15:82030477-82030483 (+)	-975 bp
Tssr132348	Chr15:82031439-82031476 (+)	3 bp
Tssr132349	Chr15:82031537-82031560 (+)	94 bp
Tssr132350	Chr15:82031573-82031599 (+)	131 bp
Tssr132351	Chr15:82031766-82031816 (+)	336 bp
Tssr132352	Chr15:82031829-82031861 (+)	390 bp
Tssr132353	Chr15:82033325-82033330 (+)	1,873 bp
Tssr132354	Chr15:82051220-82051255 (+)	19,783 bp
Tssr132355	Chr15:82054105-82054136 (+)	22,666 bp
Tssr132356	Chr15:82054164-82054177 (+)	22,716 bp
Tssr132357	Chr15:82054191-82054202 (+)	22,742 bp
Tssr132358	Chr15:82054210-82054236 (+)	22,768 bp
Tssr132359	Chr15:82055389-82055405 (+)	23,942 bp
Tssr132360	Chr15:82055407-82055446 (+)	23,972 bp
Tssr4664	Chr15:82065354-82065357 (+)	33,901 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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