Degs2 MGI Mouse Gene Detail - MGI:1917309 - delta 4-desaturase, sphingolipid 2

Symbol

Degs2
Name

delta 4-desaturase, sphingolipid 2
Synonyms

2210008A03Rik, Des2

Feature Type

protein coding gene
IDs

MGI:1917309
NCBI Gene: 70059
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr12:108653051-108668561 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 59.46 cM
Mapping Data

3 experiments

SNPs within 2kb

449 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1917309	protein coding gene	Chr12:108644970-108668570 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020107	protein coding gene	Chr12:110828374-110843847 (-)
A/J	MGP_AJ_G0020061	protein coding gene	Chr12:106619298-106634856 (-)
AKR/J	MGP_AKRJ_G0020037	protein coding gene	Chr12:109708134-109723801 (-)
BALB/cJ	MGP_BALBcJ_G0020047	protein coding gene	Chr12:107036573-107052996 (-)
C3H/HeJ	MGP_C3HHeJ_G0019849	protein coding gene	Chr12:110153488-110171140 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020492	protein coding gene	Chr12:114234064-114249722 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018104	protein coding gene	Chr12:103146874-103162729 (-)
CAST/EiJ	MGP_CASTEiJ_G0019391	protein coding gene	Chr12:105097934-105115800 (-)
CBA/J	MGP_CBAJ_G0019816	protein coding gene	Chr12:118776219-118791917 (-)
DBA/2J	MGP_DBA2J_G0019933	protein coding gene	Chr12:106159694-106175214 (-)
FVB/NJ	MGP_FVBNJ_G0019918	protein coding gene	Chr12:104941271-104957210 (-)
LP/J	MGP_LPJ_G0020008	protein coding gene	Chr12:110696919-110713486 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019956	protein coding gene	Chr12:121947202-121963862 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020521	protein coding gene	Chr12:109192807-109208256 (-)
PWK/PhJ	MGP_PWKPhJ_G0019150	protein coding gene	Chr12:100771067-100787183 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018954	protein coding gene	Chr12:103393583-103410164 (-)
WSB/EiJ	MGP_WSBEiJ_G0019448	protein coding gene	Chr12:110127388-110142893 (-)

Human Ortholog

DEGS2, delta 4-desaturase, sphingolipid 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DEGS2, delta 4-desaturase, sphingolipid 2
Synonyms

C14orf66, DES2, FADS8
Links

HGNC:20113

NCBI Gene ID: 123099

neXtProt AC: NX_Q6QHC5

UniProt: Q6QHC5
Chr Location

14q32.2; chr14:100143957-100166886 (-) GRCh38

MGI Vertebrate Homology

Degs2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DEGS2
Protein SuperFamily

Sphnglp_dlt4_des
Gene Tree

Degs2

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
7 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

7
Endonuclease-mediated

3
Gene trapped

1
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

17 strains or lines available

Mice homozygous for a null allele exhibit normal skin barrier function but altered phytosphingosine ceramides with a bias toward very-long-fatty acid PHS-CER rather than long-chain ones.

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All GO Annotations

14
GO References

9

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

801
Tissues

95
cDNA Data

46
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase degs2

ZFIN degs2

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All Sequences

39
RefSeq

4
UniProt

2
CCDS

CCDS26162.1, CCDS49170.1

Ensembl

ENSMUSG00000021263 (Evidence)
NCBI Gene

70059

			Length	Strain/Species	Flank
genomic	70059	NCBI Gene Model \| MGI Sequence Detail	15511	C57BL/6J	± kb
transcript	NM_001171002	RefSeq \| MGI Sequence Detail	3185	C57BL/6
polypeptide	Q8R2F2	UniProt \| EBI \| MGI Sequence Detail	323	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006414 sphingolipid Delta(4)-desaturase/C4-monooxygenase DES2

(term hierarchy)
EC

1.14.18.5, 1.14.19.17
InterPro Domains

IPR005804 Fatty acid desaturase domain

IPR011388 Sphingolipid delta4-desaturase

IPR013866 Sphingolipid delta4-desaturase, N-terminal

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All nucleic 46

cDNA 46

Microarray probesets 3

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MGI:2144905

Summaries

All 39

Developmental Gene Expression 4

Gene Ontology 9

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:335426 Butera A, et al., ZFP750 affects the cutaneous barrier through regulating lipid metabolism. Sci Adv. 2023 Apr 28;9(17):eadg5423

TSS for Degs2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr117693	Chr12:108668577-108668586 (-)	-21 bp
Tssr117692	Chr12:108668520-108668575 (-)	13 bp
Tssr117691	Chr12:108654769-108654774 (-)	13,789 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 11/12/2024 MGI 6.24