Helq MGI Mouse Gene Detail - MGI:2176740

Symbol

Helq
Name

helicase, POLQ-like
Synonyms

D430018E21Rik, Hel308

Feature Type

protein coding gene
IDs

MGI:2176740
NCBI Gene: 191578
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr5:100910011-100946464 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 48.52 cM, cytoband E
Mapping Data

4 experiments

SNPs within 2kb

1157 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2176740	protein coding gene	Chr5:100910010-100946529 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0029791	protein coding gene	Chr5:102272512-102309954 (-)
A/J	MGP_AJ_G0029757	protein coding gene	Chr5:98458689-98495898 (-)
AKR/J	MGP_AKRJ_G0029703	protein coding gene	Chr5:101698053-101734532 (-)
BALB/cJ	MGP_BALBcJ_G0029767	protein coding gene	Chr5:99484871-99521341 (-)
C3H/HeJ	MGP_C3HHeJ_G0029490	protein coding gene	Chr5:102045668-102083386 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030222	protein coding gene	Chr5:106519642-106557232 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027457	protein coding gene	Chr5:93699431-93738681 (-)
CAST/EiJ	MGP_CASTEiJ_G0028901	protein coding gene	Chr5:100711321-100748885 (-)
CBA/J	MGP_CBAJ_G0029460	protein coding gene	Chr5:110216056-110254795 (-)
DBA/2J	MGP_DBA2J_G0029604	protein coding gene	Chr5:98647589-98684756 (-)
FVB/NJ	MGP_FVBNJ_G0029563	protein coding gene	Chr5:97450832-97487344 (-)
LP/J	MGP_LPJ_G0029692	protein coding gene	Chr5:102885464-102921900 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029592	protein coding gene	Chr5:115276091-115313469 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030255	protein coding gene	Chr5:101180790-101217823 (-)
PWK/PhJ	MGP_PWKPhJ_G0028619	protein coding gene	Chr5:97083746-97120252 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028454	protein coding gene	Chr5:98853146-98889616 (-)
WSB/EiJ	MGP_WSBEiJ_G0028979	protein coding gene	Chr5:101516131-101553689 (-)

Human Ortholog

HELQ, helicase, POLQ like

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HELQ, helicase, POLQ like
Synonyms

HEL308
Links

HGNC:18536

NCBI Gene ID: 113510

neXtProt AC: NX_Q8TDG4

UniProt: Q8TDG4
Chr Location

4q21.23; chr4:83407343-83455883 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: HELQ
Gene Tree

Helq

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Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

28 phenotypes from 3 alleles in 3 genetic backgrounds
16 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

9
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

2
Radiation induced

1
Spontaneous

1
Genomic Mutations

3 involving Helq
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit reduced fertility and increased incident of tumors.

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All GO Annotations

32
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

706
cDNA Data

53

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase helq

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All Sequences

88
RefSeq

38
UniProt

5
CCDS

CCDS39184.1

Ensembl

ENSMUSG00000035266 (Evidence)
NCBI Gene

191578

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035266	Ensembl Gene Model \| MGI Sequence Detail	36454	C57BL/6J	± kb
transcript	ENSMUST00000044684	Ensembl \| MGI Sequence Detail	3689	Not Applicable
polypeptide	ENSMUSP00000041599	Ensembl \| MGI Sequence Detail	1069	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000008507 ATP-dependent DNA helicase HEL308

(term hierarchy)
EC

3.6.4.12
InterPro Domains

IPR011545 DEAD/DEAH box helicase domain

IPR046931 DNA polymerase theta-like, helix-turn-helix domain

IPR001650 Helicase, C-terminal domain-like

IPR050474 Helicase Hel308/SKI2

IPR014001 Helicase superfamily 1/2, ATP-binding domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR048960 POLQ-like, helical domain

IPR036390 Winged helix DNA-binding domain superfamily

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All nucleic 53

cDNA 53

Microarray probesets 2

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MGI:2141056, MGI:2443481

Summaries

All 43

Diseases 1

Gene Ontology 8

Phenotypes 16
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:347863 Bakhshalizadeh S, et al., A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes (Basel). 2024 Mar 4;15(3)

TSS for Helq:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr52118	Chr5:100946433-100946476 (-)	9 bp
Tssr52117	Chr5:100946398-100946415 (-)	57 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 11/12/2024 MGI 6.24