Ttc19 MGI Mouse Gene Detail - MGI:1920045 - tetratricopeptide repeat domain 19

Symbol

Ttc19
Name

tetratricopeptide repeat domain 19
Synonyms

2010204O13Rik, 2810460C24Rik

Feature Type

protein coding gene
IDs

MGI:1920045
NCBI Gene: 72795
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:62172256-62208611 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 38.02 cM
Mapping Data

2 experiments

SNPs within 2kb

724 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920045	protein coding gene	Chr11:62172256-62219277 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018452	protein coding gene	Chr11:62299593-62349616 (+)
A/J	MGP_AJ_G0018421	protein coding gene	Chr11:60005427-60053276 (+)
AKR/J	MGP_AKRJ_G0018391	protein coding gene	Chr11:61858184-61907124 (+)
BALB/cJ	MGP_BALBcJ_G0018392	protein coding gene	Chr11:60291761-60339241 (+)
C3H/HeJ	MGP_C3HHeJ_G0018205	protein coding gene	Chr11:61832758-61880485 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018844	protein coding gene	Chr11:64268127-64315271 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016490	protein coding gene	Chr11:57106356-57152985 (+)
CAST/EiJ	MGP_CASTEiJ_G0017762	protein coding gene	Chr11:61967502-62017749 (+)
CBA/J	MGP_CBAJ_G0018179	protein coding gene	Chr11:67048406-67097066 (+)
DBA/2J	MGP_DBA2J_G0018288	protein coding gene	Chr11:59558842-59605916 (+)
FVB/NJ	MGP_FVBNJ_G0018279	protein coding gene	Chr11:59238323-59284793 (+)
LP/J	MGP_LPJ_G0018361	protein coding gene	Chr11:62857940-62906833 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018303	protein coding gene	Chr11:68041406-68092404 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018885	protein coding gene	Chr11:62007273-62054391 (+)
PWK/PhJ	MGP_PWKPhJ_G0017535	protein coding gene	Chr11:60179902-60227080 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017325	protein coding gene	Chr11:61847826-61896350 (+)
WSB/EiJ	MGP_WSBEiJ_G0017814	protein coding gene	Chr11:61608335-61656417 (+)

Human Ortholog

TTC19, tetratricopeptide repeat domain 19

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TTC19, tetratricopeptide repeat domain 19
Synonyms

2010204O13Rik, MC3DN2
Links

HGNC:26006

NCBI Gene ID: 54902

neXtProt AC: NX_Q6DKK2

UniProt: Q6DKK2
Chr Location

17p12; chr17:15999784-16045015 (+) GRCh38

MGI Vertebrate Homology

Ttc19 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TTC19
Gene Tree

Ttc19

Diseases

1 with human TTC19 associations

				Human Disease	Mouse Models
				mitochondrial complex III deficiency nuclear type 2 IDs mitochondrial complex III deficiency nuclear type 2 DOID:0060351 OMIM:615157

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
9 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
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

1
Targeted

3
Genomic Mutations

1 involving Ttc19
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

14 strains or lines available

Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity.

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All GO Annotations

10
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

735
Tissues

5
cDNA Data

12
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ttc19

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All Sequences

61
RefSeq

13
UniProt

3
CCDS

CCDS36177.1, CCDS48817.1

Ensembl

ENSMUSG00000042298 (Evidence)
NCBI Gene

72795

			Length	Strain/Species	Flank
genomic	72795	NCBI Gene Model \| MGI Sequence Detail	36356	C57BL/6J	± kb
transcript	NM_028360	RefSeq \| MGI Sequence Detail	3430	C57BL/6
polypeptide	Q8CC21	UniProt \| EBI \| MGI Sequence Detail	365	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000029831 tetratricopeptide repeat protein 19, mitochondrial

(term hierarchy)
InterPro Domains

IPR011990 Tetratricopeptide-like helical domain superfamily

IPR019734 Tetratricopeptide repeat

IPR040395 Tetratricopeptide repeat protein 19

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All nucleic 12

cDNA 12

Microarray probesets 5

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MGI:1923943, MGI:2144210

Summaries

All 33

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 9
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:342833 Radaelli E, et al., Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis. Elife. 2023 Jul 28;12

TSS for Ttc19:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr102002	Chr11:62172250-62172260 (+)	-1 bp
Tssr102003	Chr11:62172266-62172282 (+)	18 bp
Tssr102004	Chr11:62172283-62172321 (+)	46 bp
Tssr102005	Chr11:62172329-62172347 (+)	82 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 10/29/2024 MGI 6.24