Pacs2 MGI Mouse Gene Detail - MGI:1924399 - phosphofurin acidic cluster sorting protein 2

Symbol

Pacs2
Name

phosphofurin acidic cluster sorting protein 2
Synonyms

6720425G15Rik, mKIAA0602, Pacs1l

Feature Type

protein coding gene
IDs

MGI:1924399
NCBI Gene: 217893
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr12:112978128-113038021 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 61.57 cM
Mapping Data

2 experiments

SNPs within 2kb

1370 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924399	protein coding gene	Chr12:112977998-113038021 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020169	protein coding gene	Chr12:115502618-115565923 (+)
A/J	MGP_AJ_G0020125	protein coding gene	Chr12:111033254-111093431 (+)
AKR/J	MGP_AKRJ_G0020100	protein coding gene	Chr12:114261962-114321507 (+)
BALB/cJ	MGP_BALBcJ_G0020110	protein coding gene	Chr12:111498072-111558420 (+)
C3H/HeJ	MGP_C3HHeJ_G0019912	protein coding gene	Chr12:114781924-114840933 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020555	protein coding gene	Chr12:119049593-119116034 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018169	protein coding gene	Chr12:107470067-107529419 (+)
CAST/EiJ	MGP_CASTEiJ_G0019452	protein coding gene	Chr12:109620012-109681656 (+)
CBA/J	MGP_CBAJ_G0019879	protein coding gene	Chr12:123616981-123677404 (+)
DBA/2J	MGP_DBA2J_G0019996	protein coding gene	Chr12:110533593-110593604 (+)
FVB/NJ	MGP_FVBNJ_G0019981	protein coding gene	Chr12:109365531-109432124 (+)
LP/J	MGP_LPJ_G0020070	protein coding gene	Chr12:115323509-115384752 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020019	protein coding gene	Chr12:126702536-126768676 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020584	protein coding gene	Chr12:113772377-113835735 (+)
PWK/PhJ	MGP_PWKPhJ_G0019214	protein coding gene	Chr12:105190396-105251121 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019018	protein coding gene	Chr12:107952980-108015797 (+)
WSB/EiJ	MGP_WSBEiJ_G0019512	protein coding gene	Chr12:114684174-114748481 (+)

Human Ortholog

PACS2, phosphofurin acidic cluster sorting protein 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PACS2, phosphofurin acidic cluster sorting protein 2
Synonyms

DEE66, EIEE66, PACS1L, PACS-2
Links

HGNC:23794

NCBI Gene ID: 23241

neXtProt AC: NX_Q86VP3

UniProt: Q86VP3
Chr Location

14q32.33; chr14:105300563-105398147 (+) GRCh38

MGI Vertebrate Homology

Pacs2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PACS2
Gene Tree

Pacs2

Diseases

1 with human PACS2 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 66 IDs developmental and epileptic encephalopathy 66 DOID:0080446 OMIM:618067

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

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Phenotype Summary

5 phenotypes from 2 alleles in 2 genetic backgrounds
19 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

10
Endonuclease-mediated

6
Gene trapped

1
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trap allele exhibit decreased sensitivity to TRAIL-induced spleen apoptosis.

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All GO Annotations

12
GO References

5

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

886
Tissues

21
cDNA Data

109
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pacs2

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All Sequences

97
RefSeq

42
UniProt

6
CCDS

CCDS36573.1, CCDS88411.1, CCDS88412.1

Ensembl

ENSMUSG00000021143 (Evidence)
NCBI Gene

217893

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021143	Ensembl Gene Model \| MGI Sequence Detail	59894	C57BL/6J	± kb
transcript	ENSMUST00000223502	Ensembl \| MGI Sequence Detail	3223	Not Applicable
polypeptide	ENSMUSP00000152439	Ensembl \| MGI Sequence Detail	894	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000012216 phosphofurin acidic cluster sorting protein 2

(term hierarchy)
InterPro Domains

IPR019381 Phosphofurin acidic cluster sorting protein 1
GlyGen

Q3V3Q7 1 site, 1 O-linked glycan (1 site)

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All nucleic 109

cDNA 109

Microarray probesets 5

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MGI:2145014, MGI:2145027

Summaries

All 48

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 19
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:349704 Krzysiak TC, et al., Inhibitory protein-protein interactions of the SIRT1 deacetylase are choreographed by post-translational modification. Protein Sci. 2024 Apr;33(4):e4938

TSS for Pacs2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr115451	Chr12:112978005-112978090 (+)	-80 bp
Tssr115452	Chr12:112978122-112978133 (+)	0 bp
Tssr115453	Chr12:112978135-112978159 (+)	19 bp
Tssr115454	Chr12:112978166-112978177 (+)	44 bp
Tssr115455	Chr12:112978179-112978188 (+)	56 bp
Tssr115456	Chr12:112985985-112986004 (+)	7,867 bp
Tssr115457	Chr12:112986056-112986060 (+)	7,930 bp
Tssr115458	Chr12:112986149-112986160 (+)	8,027 bp
Tssr115459	Chr12:112986990-112987009 (+)	8,872 bp
Tssr115460	Chr12:113013586-113013595 (+)	35,463 bp
Tssr115461	Chr12:113014121-113014133 (+)	35,999 bp
Tssr115462	Chr12:113014150-113014159 (+)	36,027 bp
Tssr115463	Chr12:113014165-113014176 (+)	36,043 bp
Tssr115464	Chr12:113016017-113016030 (+)	37,896 bp
Tssr115465	Chr12:113016182-113016206 (+)	38,066 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