Ptcd2 MGI Mouse Gene Detail - MGI:1916177 - pentatricopeptide repeat domain 2

Symbol

Ptcd2
Name

pentatricopeptide repeat domain 2
Synonyms

1190005P08Rik

Feature Type

protein coding gene
IDs

MGI:1916177
NCBI Gene: 68927
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr13:99456157-99481215 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 52.76 cM, cytoband D1
Mapping Data

2 experiments

SNPs within 2kb

755 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916177	protein coding gene	Chr13:99456155-99481215 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020874	protein coding gene	Chr13:101102620-101127280 (-)
A/J	MGP_AJ_G0020828	protein coding gene	Chr13:97226075-97250780 (-)
AKR/J	MGP_AKRJ_G0020802	protein coding gene	Chr13:100198495-100224834 (-)
BALB/cJ	MGP_BALBcJ_G0020826	protein coding gene	Chr13:97930088-97954650 (-)
C3H/HeJ	MGP_C3HHeJ_G0020617	protein coding gene	Chr13:99934502-99959255 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021260	protein coding gene	Chr13:104109633-104134454 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018829	protein coding gene	Chr13:92962161-92986679 (-)
CAST/EiJ	MGP_CASTEiJ_G0020135	protein coding gene	Chr13:99340891-99365613 (-)
CBA/J	MGP_CBAJ_G0020577	protein coding gene	Chr13:108246119-108270836 (-)
DBA/2J	MGP_DBA2J_G0020702	protein coding gene	Chr13:96994997-97019665 (-)
FVB/NJ	MGP_FVBNJ_G0020683	protein coding gene	Chr13:95738728-95763385 (-)
LP/J	MGP_LPJ_G0020777	protein coding gene	Chr13:101202500-101228072 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020711	protein coding gene	Chr13:108556038-108581769 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021301	protein coding gene	Chr13:99647139-99673116 (-)
PWK/PhJ	MGP_PWKPhJ_G0019888	protein coding gene	Chr13:95813382-95839013 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019711	protein coding gene	Chr13:95944246-95969082 (-)
WSB/EiJ	MGP_WSBEiJ_G0020193	protein coding gene	Chr13:100087981-100112681 (-)

Human Ortholog

PTCD2, pentatricopeptide repeat domain 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PTCD2, pentatricopeptide repeat domain 2
Links

HGNC:25734

NCBI Gene ID: 79810

neXtProt AC: NX_Q8WV60

UniProt: Q8WV60
Chr Location

5q13.2; chr5:72320367-72368395 (+) GRCh38

MGI Vertebrate Homology

Ptcd2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PTCD2
Gene Tree

Ptcd2

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
8 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

17
Endonuclease-mediated

1
Gene trapped

16
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

25 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trapped allele exhibit abnormal mitochondrial morphology and physiology, especially in the heart, liver, skeletal muscle and kidney.

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All GO Annotations

15
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

728
Tissues

22
cDNA Data

49
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 ptcd2

ZFIN ptcd2

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All Sequences

37
RefSeq

4
UniProt

1
CCDS

CCDS26721.1

Ensembl

ENSMUSG00000021650 (Evidence)
NCBI Gene

68927

			Length	Strain/Species	Flank
genomic	68927	NCBI Gene Model \| MGI Sequence Detail	25059	C57BL/6J	± kb
transcript	NM_026873	RefSeq \| MGI Sequence Detail	1675	C57BL/6
polypeptide	Q8R3K3	UniProt \| EBI \| MGI Sequence Detail	381	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000029699 pentatricopeptide repeat-containing protein 2

(term hierarchy)
InterPro Domains

IPR034913 mS27/PTCD2

IPR002885 Pentatricopeptide repeat

IPR034629 Pentatricopeptide repeat-containing protein 2, mitochondrial

IPR011990 Tetratricopeptide-like helical domain superfamily

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All nucleic 50

cDNA 49

Primer pair 1

Microarray probesets 5

Summaries

All 32

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 8
Earliest

J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
Latest

J:151002 Pagliarini DJ, et al., A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11;134(1):112-23

TSS for Ptcd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr123677	Chr13:99481160-99481214 (-)	28 bp
Tssr123676	Chr13:99481128-99481139 (-)	81 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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