Daxx MGI Mouse Gene Detail - MGI:1197015 - Fas death domain-associated protein

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Daxx Gene Detail

Symbol

Daxx
Name

Fas death domain-associated protein

Feature Type

protein coding gene
IDs

MGI:1197015
NCBI Gene: 13163
Alliance

gene page
Transcription Start Sites

13 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr17:34128388-34134564 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 17.98 cM
Mapping Data

5 experiments

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Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1197015	protein coding gene	Chr17:34128379-34134564 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023541	protein coding gene	Chr17:33858826-33864855 (+)
A/J	MGP_AJ_G0023502	protein coding gene	Chr17:32691972-32698110 (+)
AKR/J	MGP_AKRJ_G0023468	protein coding gene	Chr17:33087620-33093767 (+)
BALB/cJ	MGP_BALBcJ_G0023505	protein coding gene	Chr17:32864911-32871066 (+)
C3H/HeJ	MGP_C3HHeJ_G0023267	protein coding gene	Chr17:33443056-33449125 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023812	protein coding gene	Chr17:27180036-27189334 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021421	protein coding gene	Chr17:30194332-30200302 (+)
CAST/EiJ	MGP_CASTEiJ_G0022769	protein coding gene	Chr17:33513465-33520275 (+)
CBA/J	MGP_CBAJ_G0023244	protein coding gene	Chr17:36540947-36547206 (+)
DBA/2J	MGP_DBA2J_G0023372	protein coding gene	Chr17:32069394-32075688 (+)
FVB/NJ	MGP_FVBNJ_G0023341	protein coding gene	Chr17:31928816-31934949 (+)
LP/J	MGP_LPJ_G0023450	protein coding gene	Chr17:34133195-34139580 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023363	protein coding gene	Chr17:35593465-35599598 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023988	protein coding gene	Chr17:33411560-33419846 (+)
PWK/PhJ	MGP_PWKPhJ_G0022517	protein coding gene	Chr17:30982200-30988902 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022333	protein coding gene	Chr17:31370896-31382017 (+)
WSB/EiJ	MGP_WSBEiJ_G0022829	protein coding gene	Chr17:33453752-33459887 (+)

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Human Ortholog

DAXX, death domain associated protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DAXX, death domain associated protein
Synonyms

BING2, DAP6, EAP1, SMIM40
Links

HGNC:2681

NCBI Gene ID: 1616

neXtProt AC: NX_Q9UER7

UniProt: Q9UER7
Chr Location

6p21.32; chr6:33318558-33323016 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: DAXX
Gene Tree

Daxx

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Diseases

5 with human DAXX associations

				Human Disease	Mouse Models
				appendiceal neoplasm IDs appendiceal neoplasm DOID:11240 MESH:D001063 NCI:C4434 UMLS_CUI:C0003614
				islet cell tumor IDs islet cell tumor DOID:1799 DOID:10165 ICD10CM:C25.4 ICD10CM:D13.7 MESH:D007516 UMLS_CUI:C0242363 UMLS_CUI:C0496784
				oral squamous cell carcinoma IDs oral squamous cell carcinoma DOID:0050866
				ovary epithelial cancer IDs ovary epithelial cancer DOID:2152 NCI:C4381 UMLS_CUI:C0341823
				pancreatic endocrine carcinoma IDs pancreatic endocrine carcinoma DOID:1798 ICD10CM:C25.4 ICD9CM:157.4 MESH:D018273 NCI:C3770 UMLS_CUI:C1328479

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

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Phenotype Summary

16 phenotypes from 4 alleles in 5 genetic backgrounds
22 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

25
Endonuclease-mediated

6
Gene trapped

15
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

34 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted mutation of this gene display extensive apoptosis and embryonic lethality.

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All GO Annotations

110
GO References

23

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

755
Tissues

28
cDNA Data

16
Literature Summary

7

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase daxx

ZFIN daxx

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All Sequences

90
RefSeq

11
UniProt

19
CCDS

CCDS28633.1

Ensembl

ENSMUSG00000002307 (Evidence)
NCBI Gene

13163

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000002307	Ensembl Gene Model \| MGI Sequence Detail	6177	C57BL/6J	± kb
	transcript	ENSMUST00000170075	Ensembl \| MGI Sequence Detail	2673	Not Applicable
	polypeptide	ENSMUSP00000128504	Ensembl \| MGI Sequence Detail	740	Not Applicable

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UniProt

19 Sequences
Protein Ontology

PR:000006283 death domain-associated protein 6

(term hierarchy)
InterPro Domains

IPR016024 Armadillo-type fold

IPR046378 Daxx, histone-binding domain

IPR046426 Daxx, histone-binding domain superfamily

IPR038298 Daxx, N-terminal domain superfamily

IPR031333 Daxx, N-terminal Rassf1C-interacting domain

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All nucleic 19

Genomic 2

cDNA 16

Primer pair 1

Microarray probesets 3

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Summaries

All 87

Developmental Gene Expression 7

Gene Ontology 23

Phenotypes 22
Earliest

J:41242 Yang X, et al., Daxx, a novel Fas-binding protein that activates JNK and apoptosis. Cell. 1997 Jun 27;89(7):1067-76
Latest

J:347585 Leon NY, et al., Y chromosome damage underlies testicular abnormalities in ATR-X syndrome. iScience. 2024 May 17;27(5):109629

TSS for Daxx:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143807	Chr17:34127366-34127384 (+)	-1,013 bp
Tssr143808	Chr17:34128383-34128403 (+)	5 bp
Tssr143809	Chr17:34128455-34128550 (+)	115 bp
Tssr143810	Chr17:34128551-34128574 (+)	175 bp
Tssr143811	Chr17:34128577-34128586 (+)	194 bp
Tssr143812	Chr17:34128596-34128617 (+)	219 bp
Tssr143813	Chr17:34129220-34129235 (+)	840 bp
Tssr143814	Chr17:34129291-34129309 (+)	912 bp
Tssr143815	Chr17:34129365-34129392 (+)	991 bp
Tssr143816	Chr17:34129397-34129419 (+)	1,020 bp
Tssr143817	Chr17:34130465-34130510 (+)	2,100 bp
Tssr143818	Chr17:34130958-34130973 (+)	2,578 bp
Tssr143819	Chr17:34131696-34131700 (+)	3,310 bp

Daxx is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Tir1	Chr17, 17.98 cM		J:125686	Candidate gene search for Tir1 (18.2 cM, chr 17), a QTL associated with resistance to Trypanosome congolense infection, was employed using a whole genome expression approach. Mice from C57BL/6 (resistant) and A/J and BALB/c (susceptible) were infected with T. congolense. RNA samples were prepared from liver, spleen, and kidney at different time intervals post-infection. Genes exhibiting differential expression and involvement in infection pathways were given priority for analysis. The Tir1 locus encompasses 344 genes. After gene expression and pathway analysis 32 candidate genes remained. Daxx at 17 cM was chosen as primary candidate because of its involvement in the apoptosis pathway. Sequence analysis revealed the presence of 3 SNPs exhibiting correlation with survival time after infection. Two of these polymorphisms are located in the Daxx 5' upstream region. The third polymorphism is a 3 nucleotide deletion resulting in the deletion of an aspartic acid residue in the susceptible A/J and BALB/c strains.

*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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