Cd247 MGI Mouse Gene Detail - MGI:88334

Symbol

Cd247
Name

CD247 antigen
Synonyms

4930549J05Rik, CD3-eta, Cd3h, Cd3z, CD3 zeta, CD3-zeta, CD3zeta, CD3-zeta/eta, T3z, TCRk, Tcrz

Feature Type

protein coding gene
IDs

MGI:88334
NCBI Gene: 12503
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr1:165616250-165704846 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 73.14 cM, cytoband G-H
Mapping Data

16 experiments

SNPs within 2kb

2430 from dbSNP Build 142
Strain Annotations

18
RFLP

7

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88334	protein coding gene	Chr1:165607514-165704846 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016698	protein coding gene	Chr1:171294368-171388081 (+)
A/J	MGP_AJ_G0016679	protein coding gene	Chr1:164300746-164407464 (+)
AKR/J	MGP_AKRJ_G0016645	protein coding gene	Chr1:169278568-169368507 (+)
BALB/cJ	MGP_BALBcJ_G0016640	protein coding gene	Chr1:164799250-164887902 (+)
C3H/HeJ	MGP_C3HHeJ_G0016464	protein coding gene	Chr1:169499496-169591538 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017101	protein coding gene	Chr1:177041933-177139096 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014810	protein coding gene	Chr1:156195330-156280262 (+)
CAST/EiJ	MGP_CASTEiJ_G0016044	protein coding gene	Chr1:169099863-169190364 (+)
CBA/J	MGP_CBAJ_G0016439	protein coding gene	Chr1:183341604-183445091 (+)
DBA/2J	MGP_DBA2J_G0016545	protein coding gene	Chr1:163191070-163277748 (+)
FVB/NJ	MGP_FVBNJ_G0016543	protein coding gene	Chr1:161624084-161714409 (+)
LP/J	MGP_LPJ_G0016616	protein coding gene	Chr1:172349298-172452784 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016568	protein coding gene	Chr1:190810608-190901891 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017137	protein coding gene	Chr1:169144684-169235793 (+)
PWK/PhJ	MGP_PWKPhJ_G0015830	protein coding gene	Chr1:162389805-162477741 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015617	protein coding gene	Chr1:167984530-168076902 (+)
WSB/EiJ	MGP_WSBEiJ_G0016106	protein coding gene	Chr1:169292909-169383604 (+)

Human Ortholog

CD247, CD247 molecule

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CD247, CD247 molecule
Synonyms

CD3H, CD3Q, CD3Z, CD3-ZETA, CD3ZETA, IMD25, T3Z, TCRZ
Links

HGNC:1677

NCBI Gene ID: 919

neXtProt AC: NX_P20963

UniProt: P20963
Chr Location

1q24.2; chr1:167425027-167518640 (-) GRCh38

MGI Vertebrate Homology

Cd247 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CD247
Gene Tree

Cd247

Diseases

1 with human CD247 associations

				Human Disease	Mouse Models
				immunodeficiency 25 IDs immunodeficiency 25 DOID:0111942 MESH:C565712 OMIM:610163 UMLS_CUI:C1857798

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

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Phenotype Summary

52 phenotypes from 7 alleles in 10 genetic backgrounds
19 phenotypes from multigenic genotypes
67 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

16
Chemically induced (ENU)

1
Chemically induced (other)

2
Endonuclease-mediated

2
Targeted

11
Genomic Mutations

2 involving Cd247
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

11 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit greatly reduced numbers of CD4+CD8+ cells, and near absence of CD4+CD8-, CD4-CD8+ cells, and TCR expression in the thymus, but the presence of single positive T cells in lymph nodes.

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All GO Annotations

36
GO References

19

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

780
Tissues

67
cDNA Data

23
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cd247

ZFIN cd247

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All Sequences

79
RefSeq

19
UniProt

4
CCDS

CCDS15443.1, CCDS48427.1, CCDS48428.2, CCDS48429.1

Ensembl

ENSMUSG00000005763 (Evidence)
NCBI Gene

12503

			Length	Strain/Species	Flank
genomic	ENSMUSG00000005763	Ensembl Gene Model \| MGI Sequence Detail	88597	C57BL/6J	± kb
transcript	ENSMUST00000027849	Ensembl \| MGI Sequence Detail	1317	Not Applicable
polypeptide	ENSMUSP00000027849	Ensembl \| MGI Sequence Detail	206	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000001027 T-cell surface glycoprotein CD3

(term hierarchy)
InterPro Domains

IPR003110 Phosphorylated immunoreceptor signalling ITAM

IPR024128 T-cell surface glycoprotein CD3 zeta subunit

IPR021663 T-cell surface glycoprotein CD3 zeta subunit/High affinity IgE receptor gamma subunit

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All nucleic 32

Genomic 6

cDNA 25

Primer pair 1

Microarray probesets 8

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MGD-MRK-14699, MGD-MRK-14930, MGD-MRK-1855, MGD-MRK-1856, MGD-MRK-1857, MGI:1922598, MGI:2138612

Summaries

All 174

Developmental Gene Expression 4

Gene Ontology 19

Phenotypes 67
Earliest

J:9058 Weissman AM, et al., Molecular cloning of the zeta chain of the T cell antigen receptor. Science. 1988 Feb 26;239(4843):1018-21
Latest

J:350414 Du R, et al., CD3zeta-Mediated Signaling Protects Retinal Ganglion Cells in Glutamate Excitotoxicity of the Retina. Cells. 2024 Jun 8;13(12)

TSS for Cd247:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr9842	Chr1:165616228-165616231 (+)	-20 bp
Tssr9843	Chr1:165616253-165616297 (+)	25 bp
Tssr9844	Chr1:165616315-165616338 (+)	77 bp
Tssr9845	Chr1:165617752-165617755 (+)	1,504 bp
Tssr9846	Chr1:165617779-165617800 (+)	1,540 bp
Tssr9847	Chr1:165637010-165637024 (+)	20,767 bp
Tssr9848	Chr1:165637299-165637303 (+)	21,051 bp
Tssr9849	Chr1:165653329-165653346 (+)	37,088 bp
Tssr9850	Chr1:165666241-165666245 (+)	49,993 bp
Tssr268	Chr1:165666492-165666497 (+)	50,245 bp
Tssr9851	Chr1:165668625-165668636 (+)	52,381 bp
Tssr9852	Chr1:165669238-165669251 (+)	52,995 bp
Tssr9853	Chr1:165679157-165679160 (+)	62,909 bp
Tssr9854	Chr1:165683727-165683775 (+)	67,501 bp
Tssr9855	Chr1:165692198-165692203 (+)	75,951 bp
Tssr9856	Chr1:165692211-165692229 (+)	75,970 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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