Pianp MGI Mouse Gene Detail - MGI:2441908 - PILR alpha associated neural protein

Symbol

Pianp
Name

PILR alpha associated neural protein
Synonyms

C530028O21Rik

Feature Type

protein coding gene
IDs

MGI:2441908
NCBI Gene: 319352
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr6:124973683-124980059 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 59.17 cM
Mapping Data

2 experiments

SNPs within 2kb

172 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2441908	protein coding gene	Chr6:124973657-124980059 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031280	protein coding gene	Chr6:128310504-128318667 (+)
A/J	MGP_AJ_G0031250	protein coding gene	Chr6:123478105-123484522 (+)
AKR/J	MGP_AKRJ_G0031178	protein coding gene	Chr6:126850254-126856671 (+)
BALB/cJ	MGP_BALBcJ_G0031258	protein coding gene	Chr6:123076026-123082443 (+)
C3H/HeJ	MGP_C3HHeJ_G0030981	protein coding gene	Chr6:126908157-126914574 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031714	protein coding gene	Chr6:131697060-131703462 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028864	protein coding gene	Chr6:120683844-120690217 (+)
CAST/EiJ	MGP_CASTEiJ_G0030362	protein coding gene	Chr6:127113649-127120060 (+)
CBA/J	MGP_CBAJ_G0030942	protein coding gene	Chr6:136734243-136740660 (+)
DBA/2J	MGP_DBA2J_G0031098	protein coding gene	Chr6:122405914-122412331 (+)
FVB/NJ	MGP_FVBNJ_G0031048	protein coding gene	Chr6:121309211-121315619 (+)
LP/J	MGP_LPJ_G0031178	protein coding gene	Chr6:128482869-128489286 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031086	protein coding gene	Chr6:140783369-140789786 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031749	protein coding gene	Chr6:126741721-126749137 (+)
PWK/PhJ	MGP_PWKPhJ_G0030077	protein coding gene	Chr6:120643186-120649597 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029906	protein coding gene	Chr6:124826019-124832439 (+)
WSB/EiJ	MGP_WSBEiJ_G0030447	protein coding gene	Chr6:127110623-127117034 (+)

Human Ortholog

PIANP, PILR alpha associated neural protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PIANP, PILR alpha associated neural protein
Synonyms

C12orf53, leda-1, LEDA1, PANP
Links

HGNC:25338

NCBI Gene ID: 196500

neXtProt AC: NX_Q8IYJ0

UniProt: Q8IYJ0
Chr Location

12p13.31; chr12:6692178-6700815 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PIANP
Gene Tree

Pianp

Diseases

1 with Pianp mouse models

Human Disease

Mouse Models

autism spectrum disorder

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

24 phenotypes from 2 alleles in 3 genetic backgrounds
6 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

6
Endonuclease-mediated

1
Targeted

5
Incidental Mutations

APF
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit reduced prefrontal cortext volume, granule cell apoptosis in the dentate gyrus, increased immature neuronal cells, reduced Purkinje cell density, and autism-like behaviors.

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All GO Annotations

15
GO References

6

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

706
cDNA Data

19

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pianp

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All Sequences

80
RefSeq

10
UniProt

5
CCDS

CCDS20540.1

Ensembl

ENSMUSG00000030329 (Evidence)
NCBI Gene

319352

			Length	Strain/Species	Flank
genomic	319352	NCBI Gene Model \| MGI Sequence Detail	6377	C57BL/6J	± kb
transcript	NM_175696	RefSeq \| MGI Sequence Detail	2246	C57BL/6
polypeptide	Q6P1B3	UniProt \| EBI \| MGI Sequence Detail	278	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000030665 PILR alpha-associated neural protein

(term hierarchy)
InterPro Domains

IPR029198 AJAP1/PANP, C-terminal

IPR039628 PILR alpha-associated neural protein
GlyGen

Q6P1B3 1 site

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All nucleic 19

cDNA 19

Microarray probesets 3

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MGI:1353607, MGI:2141602

Summaries

All 31

Diseases 1

Gene Ontology 6

Phenotypes 6
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:279537 Winkler M, et al., Pianp deficiency links GABAB receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior. Mol Psychiatry. 2019 Sep 11;

TSS for Pianp:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr58877	Chr6:124973644-124973719 (+)	-1 bp
Tssr2014	Chr6:124973730-124973744 (+)	54 bp
Tssr58878	Chr6:124973754-124973805 (+)	97 bp
Tssr58879	Chr6:124974010-124974022 (+)	333 bp
Tssr58880	Chr6:124974025-124974045 (+)	352 bp
Tssr58881	Chr6:124974053-124974075 (+)	381 bp
Tssr58882	Chr6:124979045-124979059 (+)	5,369 bp
Tssr58883	Chr6:124979133-124979145 (+)	5,456 bp
Tssr58884	Chr6:124979734-124979752 (+)	6,060 bp
Tssr58885	Chr6:124979810-124979851 (+)	6,148 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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