Unc119 MGI Mouse Gene Detail - MGI:1328357 - unc-119 lipid binding chaperone

Symbol

Unc119
Name

unc-119 lipid binding chaperone
Synonyms

HRG4, MRG4, Rg4, Rtg4, UNC119, Unc119h

Feature Type

protein coding gene
IDs

MGI:1328357
NCBI Gene: 22248
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:78234321-78239990 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 46.74 cM, cytoband B5
Mapping Data

2 experiments

SNPs within 2kb

194 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1328357	protein coding gene	Chr11:78234308-78239990 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018777	protein coding gene	Chr11:79345590-79351268 (+)
A/J	MGP_AJ_G0018743	protein coding gene	Chr11:76306745-76312420 (+)
AKR/J	MGP_AKRJ_G0018713	protein coding gene	Chr11:78612234-78617916 (+)
BALB/cJ	MGP_BALBcJ_G0018717	protein coding gene	Chr11:76716333-76722005 (+)
C3H/HeJ	MGP_C3HHeJ_G0018530	protein coding gene	Chr11:78653578-78659248 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019168	protein coding gene	Chr11:81816706-81822383 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016803	protein coding gene	Chr11:73286977-73292661 (+)
CAST/EiJ	MGP_CASTEiJ_G0018084	protein coding gene	Chr11:79107692-79113400 (+)
CBA/J	MGP_CBAJ_G0018500	protein coding gene	Chr11:85395161-85400848 (+)
DBA/2J	MGP_DBA2J_G0018609	protein coding gene	Chr11:75886242-75891918 (+)
FVB/NJ	MGP_FVBNJ_G0018599	protein coding gene	Chr11:75473337-75479023 (+)
LP/J	MGP_LPJ_G0018680	protein coding gene	Chr11:79874629-79880307 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018625	protein coding gene	Chr11:85799093-85804779 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019208	protein coding gene	Chr11:78861341-78867016 (+)
PWK/PhJ	MGP_PWKPhJ_G0017855	protein coding gene	Chr11:76679535-76685348 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017646	protein coding gene	Chr11:78472407-78478080 (+)
WSB/EiJ	MGP_WSBEiJ_G0018137	protein coding gene	Chr11:78684545-78690228 (+)

Human Ortholog

UNC119, unc-119 lipid binding chaperone

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

UNC119, unc-119 lipid binding chaperone
Synonyms

CORD24, HRG4, IMD13, POC7, POC7A
Links

HGNC:12565

NCBI Gene ID: 9094

neXtProt AC: NX_Q13432

UniProt: Q13432
Chr Location

17q11.2; chr17:28546707-28552631 (-) GRCh38

MGI Vertebrate Homology

Unc119 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: UNC119
Gene Tree

Unc119

Diseases

2 with human UNC119 associations

				Human Disease	Mouse Models
				cone-rod dystrophy 24 IDs cone-rod dystrophy 24 DOID:0081449 OMIM:620342
				immunodeficiency 13 IDs immunodeficiency 13 DOID:0111987 OMIM:615518 ORDO:228000 UMLS_CUI:C3809768

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

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Phenotype Summary

8 phenotypes from 2 alleles in 2 genetic backgrounds
20 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
Targeted

5
Genomic Mutations

3 involving Unc119
Incidental Mutations

APF
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit retinal degeneration characterized by thinning of the outer nuclear layer of the retinal that is visible at 6 months and progresses rapidly after 17 to end-stage by 26 months.

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All GO Annotations

36
GO References

8

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

764
Tissues

19
cDNA Data

84
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase unc119

ZFIN unc119a1, unc119a2

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All Sequences

53
RefSeq

10
UniProt

4
CCDS

CCDS25101.1, CCDS83853.1, CCDS83854.1

Ensembl

ENSMUSG00000002058 (Evidence)
NCBI Gene

22248

			Length	Strain/Species	Flank
genomic	22248	NCBI Gene Model \| MGI Sequence Detail	5670	C57BL/6J	± kb
transcript	NM_001313985	RefSeq \| MGI Sequence Detail	1398	ZRU/MplStud
polypeptide	Q9Z2R6	UniProt \| EBI \| MGI Sequence Detail	240	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000017084 protein unc-119 homolog A

(term hierarchy)
InterPro Domains

IPR008015 GMP phosphodiesterase, delta subunit

IPR037036 GMP phosphodiesterase, delta subunit superfamily

IPR014756 Immunoglobulin E-set

IPR051519 PDE6D/unc-119 myristoyl-binding

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All nucleic 86

Genomic 1

cDNA 85

Microarray probesets 3

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MGI:1276531

Summaries

All 56

Developmental Gene Expression 4

Gene Ontology 8

Phenotypes 20
Earliest

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

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Unc119:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103286	Chr11:78232663-78232712 (+)	-1,633 bp
Tssr103287	Chr11:78234263-78234270 (+)	-54 bp
Tssr103288	Chr11:78234301-78234352 (+)	6 bp
Tssr103289	Chr11:78234356-78234367 (+)	41 bp
Tssr103290	Chr11:78235359-78235362 (+)	1,040 bp
Tssr103291	Chr11:78237509-78237535 (+)	3,201 bp
Tssr103292	Chr11:78238996-78239026 (+)	4,690 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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