Ddx39b MGI Mouse Gene Detail - MGI:99240

Symbol

Ddx39b
Name

DEAD box helicase 39b
Synonyms

0610030D10Rik, Bat-1, Bat1, Bat1a, D17H6S81E-1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B, MGC:19235, MGC:38799

Feature Type

protein coding gene
IDs

MGI:99240
NCBI Gene: 53817
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr17:35460722-35472683 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 18.60 cM
Mapping Data

5 experiments

Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_99240	protein coding gene	Chr17:35460722-35472683 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023633	protein coding gene	Chr17:35393214-35406759 (+)
A/J	MGP_AJ_G0023592	protein coding gene	Chr17:34211890-34223589 (+)
AKR/J	MGP_AKRJ_G0023561	protein coding gene	Chr17:34692027-34703743 (+)
BALB/cJ	MGP_BALBcJ_G0023599	protein coding gene	Chr17:34357388-34372381 (+)
C3H/HeJ	MGP_C3HHeJ_G0023360	protein coding gene	Chr17:35097412-35109122 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024038	protein coding gene	Chr17:36748614-36762353 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021519	protein coding gene	Chr17:31983996-31989733 (+)
CAST/EiJ	MGP_CASTEiJ_G0022856	protein coding gene	Chr17:35106495-35121347 (+)
CBA/J	MGP_CBAJ_G0023338	protein coding gene	Chr17:38250597-38262306 (+)
DBA/2J	MGP_DBA2J_G0023466	protein coding gene	Chr17:33539164-33552440 (+)
FVB/NJ	MGP_FVBNJ_G0023433	protein coding gene	Chr17:33381281-33395374 (+)
LP/J	MGP_LPJ_G0023543	protein coding gene	Chr17:35722550-35735449 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023455	protein coding gene	Chr17:37177990-37189908 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024083	protein coding gene	Chr17:34922302-34934058 (+)
PWK/PhJ	MGP_PWKPhJ_G0022604	protein coding gene	Chr17:32380350-32392204 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022424	protein coding gene	Chr17:32931140-32942840 (+)
WSB/EiJ	MGP_WSBEiJ_G0022920	protein coding gene	Chr17:35051305-35064368 (+)

Human Ortholog

DDX39B, DExD-box helicase 39B

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DDX39B, DExD-box helicase 39B
Synonyms

BAT1, D6S81E, UAP56
Links

HGNC:13917

NCBI Gene ID: 7919

neXtProt AC: NX_Q13838

UniProt: Q13838
Chr Location

6p21.33; chr6:31530219-31542448 (-) GRCh38

MGI Vertebrate Homology

Ddx39b stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DDX39B
Gene Tree

Ddx39b

Diseases

1 with human DDX39B associations

				Human Disease	Mouse Models
				type 1 diabetes mellitus IDs type 1 diabetes mellitus DOID:9744 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 UMLS_CUI:C0011854

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

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
11 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

67
Endonuclease-mediated

3
Gene trapped

62
Targeted

2
Genomic Mutations

1 involving Ddx39b
Incidental Mutations

APF
Find Mice (IMSR)

55 strains or lines available

Mice homozygous for a null allele exhibit complete preweaning lethality while mice heterozygous for the allele exhibit increased susceptibility to gamma radiation.

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All GO Annotations

53
GO References

10

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

712
Tissues

1
cDNA Data

10
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ddx39b

ZFIN ddx39b

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All Sequences

65
RefSeq

4
UniProt

4
CCDS

CCDS28695.1

Ensembl

ENSMUSG00000019432 (Evidence)
NCBI Gene

53817

			Length	Strain/Species	Flank
genomic	53817	NCBI Gene Model \| MGI Sequence Detail	11962	C57BL/6J	± kb
transcript	NM_019693	RefSeq \| MGI Sequence Detail	1756	ZRU/MplStud
polypeptide	Q9Z1N5	UniProt \| EBI \| MGI Sequence Detail	428	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004648 spliceosome RNA helicase BAT1

(term hierarchy)
EC

3.6.4.13
InterPro Domains

IPR011545 DEAD/DEAH box helicase domain

IPR001650 Helicase, C-terminal domain-like

IPR014001 Helicase superfamily 1/2, ATP-binding domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR014014 RNA helicase, DEAD-box type, Q motif
GlyGen

Q9Z1N5 1 site, 1 O-linked glycan (1 site)

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All nucleic 28

Genomic 16

cDNA 11

Primer pair 1

Microarray probesets 5

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MGD-MRK-1499, MGD-MRK-1506, MGD-MRK-15997, MGD-MRK-16027, MGD-MRK-7732, MGI:1915639, MGI:3035179

Summaries

All 56

Developmental Gene Expression 2

Gene Ontology 10

Phenotypes 11
Earliest

J:10809 Wroblewski JM, et al., The B144-H-2Db interval and the location of a mouse homologue of the human D6S81E locus. Immunogenetics. 1990;32(3):200-4
Latest

J:345229 Bhattacharjee R, et al., Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nat Commun. 2024 Feb 8;15(1):1210

TSS for Ddx39b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr144317	Chr17:35460742-35460750 (+)	24 bp
Tssr144318	Chr17:35460761-35460813 (+)	65 bp
Tssr144319	Chr17:35460814-35460830 (+)	100 bp
Tssr144320	Chr17:35461144-35461174 (+)	437 bp
Tssr144322	Chr17:35461844-35461856 (+)	1,128 bp
Tssr144330	Chr17:35467942-35467967 (+)	7,233 bp
Tssr144331	Chr17:35468057-35468105 (+)	7,359 bp
Tssr5103	Chr17:35472508-35472569 (+)	11,817 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