Pnn MGI Mouse Gene Detail - MGI:1100514

Symbol

Pnn
Name

pinin
Synonyms

D12Ertd512e

Feature Type

protein coding gene
IDs

MGI:1100514
NCBI Gene: 18949
Alliance

gene page
Transcription Start Sites

13 TSS

Sequence Map

Chr12:59113705-59120803 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 26.00 cM
Mapping Data

3 experiments

SNPs within 2kb

45 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1100514	protein coding gene	Chr12:59113670-59120803 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019768	protein coding gene	Chr12:58262794-58269885 (+)
A/J	MGP_AJ_G0019727	protein coding gene	Chr12:56144918-56152015 (+)
AKR/J	MGP_AKRJ_G0019702	protein coding gene	Chr12:57928583-57935726 (+)
BALB/cJ	MGP_BALBcJ_G0019707	protein coding gene	Chr12:56526336-56533433 (+)
C3H/HeJ	MGP_C3HHeJ_G0019512	protein coding gene	Chr12:58034626-58041723 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020159	protein coding gene	Chr12:59983499-59990687 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017779	protein coding gene	Chr12:54519693-54527664 (+)
CAST/EiJ	MGP_CASTEiJ_G0019064	protein coding gene	Chr12:52921743-52931180 (+)
CBA/J	MGP_CBAJ_G0019481	protein coding gene	Chr12:62183942-62191039 (+)
DBA/2J	MGP_DBA2J_G0019597	protein coding gene	Chr12:56059347-56066444 (+)
FVB/NJ	MGP_FVBNJ_G0019585	protein coding gene	Chr12:55331882-55338979 (+)
LP/J	MGP_LPJ_G0019669	protein coding gene	Chr12:58305322-58312413 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019623	protein coding gene	Chr12:63782111-63789202 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020193	protein coding gene	Chr12:57375870-57382967 (+)
PWK/PhJ	MGP_PWKPhJ_G0018830	protein coding gene	Chr12:50408725-50416026 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018624	protein coding gene	Chr12:51777716-51786221 (+)
WSB/EiJ	MGP_WSBEiJ_G0019115	protein coding gene	Chr12:57941571-57948673 (+)

Human Ortholog

PNN, pinin, desmosome associated protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PNN, pinin, desmosome associated protein
Synonyms

DRS, DRSP, memA, SDK3
Links

HGNC:9162

NCBI Gene ID: 5411

neXtProt AC: NX_Q9H307

UniProt: Q9H307
Chr Location

14q21.1; chr14:39175183-39183220 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PNN
Gene Tree

Pnn

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Phenotype Summary

30 phenotypes from 4 alleles in 3 genetic backgrounds
17 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

27
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

17
Targeted

7
Genomic Mutations

1 involving Pnn
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele show complete perinatal lethality, edema, axial skeletal abnormalities, cardiac outflow tract defects, cleft palate, and impaired development of the dorsal dermis and brown fat tissue.

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All GO Annotations

11
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	non-membrane-bounded 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

930
Tissues

129
cDNA Data

113
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pnn

ZFIN pnn

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All Sequences

53
RefSeq

2
UniProt

4
CCDS

CCDS25933.1

Ensembl

ENSMUSG00000020994 (Evidence)
NCBI Gene

18949

			Length	Strain/Species	Flank
genomic	18949	NCBI Gene Model \| MGI Sequence Detail	7099	C57BL/6J	± kb
transcript	NM_008891	RefSeq \| MGI Sequence Detail	3469	ZRU/MplStud
polypeptide	O35691	UniProt \| EBI \| MGI Sequence Detail	725	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012938 pinin

(term hierarchy)
InterPro Domains

IPR039853 Pinin

IPR006787 Pinin/SDK

IPR006786 Pinin/SDK/MemA protein

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All nucleic 121

Genomic 1

cDNA 115

Primer pair 5

Microarray probesets 5

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MGI:1261772, MGI:2144968

Summaries

All 52

Developmental Gene Expression 9

Gene Ontology 5

Phenotypes 17
Earliest

J:36843 Ouyang P, et al., Characterization of pinin, a novel protein associated with the desmosome-intermediate filament complex. J Cell Biol. 1996 Nov;135(4):1027-42
Latest

J:269138 Blazquez L, et al., Exon Junction Complex Shapes the Transcriptome by Repressing Recursive Splicing. Mol Cell. 2018 Nov 1;72(3):496-509.e9

TSS for Pnn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113543	Chr12:59113659-59113668 (+)	-41 bp
Tssr113544	Chr12:59113682-59113693 (+)	-17 bp
Tssr113545	Chr12:59113694-59113717 (+)	1 bp
Tssr113546	Chr12:59113726-59113787 (+)	52 bp
Tssr113547	Chr12:59117000-59117013 (+)	3,302 bp
Tssr113548	Chr12:59117016-59117065 (+)	3,336 bp
Tssr113549	Chr12:59117209-59117272 (+)	3,536 bp
Tssr113550	Chr12:59118254-59118276 (+)	4,560 bp
Tssr113551	Chr12:59118305-59118318 (+)	4,607 bp
Tssr113552	Chr12:59118339-59118356 (+)	4,643 bp
Tssr113553	Chr12:59118374-59118389 (+)	4,677 bp
Tssr113554	Chr12:59118592-59118616 (+)	4,899 bp
Tssr113555	Chr12:59119057-59119070 (+)	5,359 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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