Hilpda MGI Mouse Gene Detail - MGI:1916823 - hypoxia inducible lipid droplet associated

Symbol

Hilpda
Name

hypoxia inducible lipid droplet associated
Synonyms

2310016C08Rik

Feature Type

protein coding gene
IDs

MGI:1916823
NCBI Gene: 69573
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr6:29272487-29275445 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 12.36 cM
Mapping Data

2 experiments

SNPs within 2kb

133 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916823	protein coding gene	Chr6:29272487-29275448 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030517	protein coding gene	Chr6:27054002-27056960 (+)
A/J	MGP_AJ_G0030490	protein coding gene	Chr6:25908919-25911877 (+)
AKR/J	MGP_AKRJ_G0030417	protein coding gene	Chr6:26765544-26768501 (+)
BALB/cJ	MGP_BALBcJ_G0030500	protein coding gene	Chr6:26066327-26069285 (+)
C3H/HeJ	MGP_C3HHeJ_G0030213	protein coding gene	Chr6:26764913-26767871 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030954	protein coding gene	Chr6:27833815-27836773 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028165	protein coding gene	Chr6:24118760-24121897 (+)
CAST/EiJ	MGP_CASTEiJ_G0029615	protein coding gene	Chr6:26562383-26565344 (+)
CBA/J	MGP_CBAJ_G0030191	protein coding gene	Chr6:28864897-28867855 (+)
DBA/2J	MGP_DBA2J_G0030335	protein coding gene	Chr6:25856641-25859599 (+)
FVB/NJ	MGP_FVBNJ_G0030289	protein coding gene	Chr6:25606214-25609668 (+)
LP/J	MGP_LPJ_G0030422	protein coding gene	Chr6:27186353-27189311 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030325	protein coding gene	Chr6:31400393-31403351 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030984	protein coding gene	Chr6:26637205-26640163 (+)
PWK/PhJ	MGP_PWKPhJ_G0029329	protein coding gene	Chr6:25388934-25391900 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029165	protein coding gene	Chr6:26365446-26370020 (+)
WSB/EiJ	MGP_WSBEiJ_G0029691	protein coding gene	Chr6:26606314-26609272 (+)

Human Ortholog

HILPDA, hypoxia inducible lipid droplet associated

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HILPDA, hypoxia inducible lipid droplet associated
Synonyms

C7orf68, HIG-2, HIG2
Links

HGNC:28859

NCBI Gene ID: 29923

neXtProt AC: NX_Q9Y5L2

UniProt: Q9Y5L2
Chr Location

7q32.1; chr7:128455849-128458418 (+) GRCh38

MGI Vertebrate Homology

Hilpda stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: HILPDA
Gene Tree

Hilpda

Diseases

2 with human HILPDA associations

				Human Disease	Mouse Models
				colorectal cancer IDs colorectal cancer DOID:9256 ICD10CM:C18.9 KEGG:05210 MESH:D015179 NCI:C2956 NCI:C4978 OMIM:114500 UMLS_CUI:C0009404 UMLS_CUI:C0346629
				hepatocellular carcinoma IDs hepatocellular carcinoma DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176

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

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Phenotype Summary

14 phenotypes from 2 alleles in 2 genetic backgrounds
21 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

18
Endonuclease-mediated

5
Gene trapped

9
Targeted

4
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit impaired thermoregulation in fasted mice.

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All GO Annotations

24
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

706
cDNA Data

33

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

38
RefSeq

4
UniProt

1
CCDS

CCDS39450.1

Ensembl

ENSMUSG00000043421 (Evidence)
NCBI Gene

69573

			Length	Strain/Species	Flank
genomic	ENSMUSG00000043421	Ensembl Gene Model \| MGI Sequence Detail	2959	C57BL/6J	± kb
transcript	ENSMUST00000115289	Ensembl \| MGI Sequence Detail	658	Not Applicable
polypeptide	ENSMUSP00000110944	Ensembl \| MGI Sequence Detail	64	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000008558 hypoxia-inducible lipid droplet-associated protein

(term hierarchy)
InterPro Domains

IPR026190 Hypoxia-inducible lipid droplet-associated protein

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All nucleic 33

cDNA 33

Microarray probesets 3

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MGI:2141637

Summaries

All 47

Gene Ontology 5

Phenotypes 21
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Hilpda:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr55219	Chr6:29271294-29271310 (+)	-1,185 bp
Tssr55220	Chr6:29271329-29271379 (+)	-1,133 bp
Tssr55221	Chr6:29272408-29272430 (+)	-68 bp
Tssr55222	Chr6:29272435-29272461 (+)	-39 bp
Tssr55223	Chr6:29272463-29272501 (+)	-5 bp
Tssr55224	Chr6:29272618-29272627 (+)	136 bp
Tssr55225	Chr6:29272664-29272681 (+)	186 bp
Tssr55226	Chr6:29272683-29272729 (+)	219 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 11/05/2024 MGI 6.24