Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	85441
Gene name	Helicase with zinc finger 2
Gene symbol	HELZ2
Synonyms (NCBI Gene)	PDIP-1PRIC285
Chromosome	20
Chromosome location	20q13.33
Summary	The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated

8 Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT568882	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT568881	hsa-miR-615-3p	PAR-CLIP	20371350
MIRT568882	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT568881	hsa-miR-615-3p	PAR-CLIP	20371350
MIRT568882	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT568881	hsa-miR-615-3p	PAR-CLIP	20371350
MIRT568882	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT568881	hsa-miR-615-3p	PAR-CLIP	20371350

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000175	Function	3'-5'-RNA exonuclease activity	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	16239304
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IDA	37602378
GO:0004386	Function	Helicase activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0004540	Function	RNA nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	16239304
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	37602378
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008859	Function	Exoribonuclease II activity	IDA	37602378
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0035194	Process	Regulatory ncRNA-mediated post-transcriptional gene silencing	IBA
GO:0043186	Component	P granule	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16239304
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
611265	30021	ENSG00000130589

Q9BYK8

Protein name

3'-5' exoribonuclease HELZ2 (EC 3.1.13.1) (ATP-dependent RNA helicase PRIC285) (EC 3.6.4.13) (Helicase with zinc finger 2, transcriptional coactivator) (Helicase with zinc finger domain 2) (PPAR-alpha-interacting complex protein 285) (PPAR-gamma DNA-bindi

Protein function

Can degrade highly structured RNAs through its concerted ATP-dependent RNA helicase and 3' to 5' exoribonuclease activities (PubMed:37602378). Shows a strong preference for pyrimidine over purine residues for its nuclease activity (PubMed:376023

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13086	AAA_11	2152 → 2399	AAA domain	Domain
PF13086	AAA_11	623 → 706	AAA domain	Domain
PF13087	AAA_12	2406 → 2612	AAA domain	Domain
PF13087	AAA_12	712 → 916	AAA domain	Domain
PF00773	RNB	1334 → 1693	RNB domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in various tissues including heart, pancreas, skeletal muscle, colon, spleen, liver, kidney, lung, peripheral blood and placenta. {ECO:0000269|PubMed:16239304}.

Sequence

MAVWEAEQLGGLQRGDLLTPPAPDGDGRTAPLGQPPGAQLYCPACLVTCHSQEAFENHCA
SSEHAQMVAFDQALPWEHRSPPPGLSKFELCPKPDLCEYGDACTKAHSAQELQEWVRRTQ
AVELRGQAAWQDGLVPYQERLLAEYQRSSSEVLVLAETLDGVRVTCNQPLMYQAQERKTQ
YSWTFAVHSEEPLLHVALLKQEPGADFSLVAPGLPPGRLYARGERFRVPSSTADFQVGVR
VQAASFGTFEQWVVFDFGRRPVLLQKLGLQLGQGRRPGPCRNLALGHPEEMERWHTGNRH
VVPGVERTAEQTALMAKYKGPALALEFNRSSVASGPISPTNYRQRMHQFLYEEEAAQQQL
VAKLTLRGQVFLKTALQTPALNMLFAPPGALYAEVPVPSSLMPDTDQGFLLGRAVSTALV
APVPAPDNTVFEVRLERRASSEQALWLLLPARCCLALGLQPEARLVLEVQFQIDPMTFRL
WHQAVDTLPEEQLVVPDLPTCALPRPWSVPPLRRGNRKQELAVALIAGWGPGDGRRVPPL
LIYGPFGTGKTYTLAMASLEVIRRPETKVLICTHTNSAADIYIREYFHSHVSGGHPEATP
LRVMYTDRPLSQTDPVTLQYCCLTDDRQAFRPPTRAELARHRVVVTTTSQARELRVPVGF
FSHILIDEAAQMLECEALTPLAYASHGTRLVLAGDHMQVTPRLFSVARARAAEHTLLHRL
FLCYQQETHEVARQSRLVFHENYRCTDAIVSFISRHFYVAKGNPIHARGKVPPHPRHYPL
MFCHVAGSPDRDMSMASWLNLAEIAQVVEKVQEAYNTWPSCWGGREQRCICVVSHGAQVS
ALRQELRRRDLGQVSVGSFEILPGRQFRVVVLSTVHTCQSLLSPGALAPEFFTDARVLNT
VLTRAQSQLVVVGDAVALCSFGACGKLWESFIRECVERHSVCPEGLSMEQVEQGVAQRRR
WPPRGTQAGAAGNWEAAPEPVGDLAEEQAAVVTAMVKAEPGDEALSPASRDITATTAQTE
AAAAPAGDAVKEDVVPGACAAGAAAAAGVESTEAEDAEADFWPWDGELNADDAILRELLD
ESQKVMVTVGEDGLLDTVARPESLQQARLYENLPPAALRKLLHAEPERYRHCSFVPETFE
RASAIPLDDASSGPIQVRGRLDCGMAFAGDEVLVQLLSGDKAPEGRLRGRVLGVLKRKRH
ELAFVCRMDTWDPRIMVPINGSVTKIFVAELKDPSQVPIYSLRKGRLQRVGLERLTAEAR
HSRLFWVQIVLWRQGFYYPLGIVREVLPEASTWEQGLRILGLEYSLRVPPSDQATITKVL
QKYHTELGRVAGRREDCRAFLTFTVDPQGACNLDDALSVRDLGPRCEVAVHITDVASFVP
RDGVLDVEARRQGAAFYAPGREPVPMLPASLCQDVLSLLPGRDRLAISLFLTMEKASGQL
KSLRFAPSVVQSDRQLSYEEAEEVIRQHPGAGRELPARLDSVDACVVAACYFSRLLRRHR
LRSDCFYEQPDEDGTLGFRAAHIMVKEYMIQFNRLVAEFLVGSECTRTVTPLRWQPAPRS
QQLKALCEKHGDRVPLSLHLGHHLHGGGGSPPDTRLHLLASLWKQVQFAARTQDYEQMVD
LVTTDDMHPFLAPAGRDLRKALERSAFGRCARGHQQQGGHYSLQVDWYTWATSPIRRYLD
VVLQRQILLALGHGGSAYSARDIDGLCQAFSLQHALAQSYQRRARSLHLAVQLKAQPLDK
LGFVVDVEAGSRCFRLLFPSNRETLPDPCPVPYGSLQLAEHPHALAGRPGLRLLWRRRVY
SAQGSSPPLPLPGTVPDPHTLAVETALWKQLLELVELQRWPEAAALIQEKGEASQRRELV
QVQRSHCGHFLEVARELGSGDTLQVQLGTSLQHGFLVPSPQLWTVAPGFSLCLEHVERPG
DCFSGRVYRAPRDRYRDVDEYACVWEPFCALESATGAVAENDSVTLQHLSVSWEASRTPQ
GQLQGAFRLEAAFLEENCADINFSCCYLCIRLEGLPAPTASPRPGPSSLGPGLNVDPGTY
TWVAHGQTQDWDQERRADRQEAPRRVHLFVHHMGMEKVPEEVLRPGTLFTVELLPKQLPD
LRKEEAVRGLEEASPLVTSIALGRPVPQPLCRVIPSRFLERQTYNIPGGRHKLNPSQNVA
VREALEKPFTVIQGPPGTGKTIVGLHIVFWFHKSNQEQVQPGGPPRGEKRLGGPCILYCG
PSNKSVDVLAGLLLRRMELKPLRVYSEQAEASEFPVPRVGSRKLLRKSPREGRPNQSLRS
ITLHHRIRQAPNPYSSEIKAFDTRLQRGELFSREDLVWYKKVLWEARKFELDRHEVILCT
CSCAASASLKILDVRQILVDEAGMATEPETLIPLVQFPQAEKVVLLGDHKQLRPVVKNER
LQNLGLDRSLFERYHEDAHMLDTQYRMHEGICAFPSVAFYKSKLKTWQGLRRPPSVLGHA
GKESCPVIFGHVQGHERSLLVSTDEGNENSKANLEEVAEVVRITKQLTLGRTVEPQDIAV
LTPYNAQASEISKALRREGIAGVAVSSITKSQGSEWRYVLVSTVRTCAKSDLDQRPTKSW
LKKFLGFVVDPNQVNVAVTRAQEGLCLIGDHLLLRCCPLWRSLLDFCEAQQTLVPAGQVR
VCRRPTMPS

Sequence length

2649

Interactions

View interactions

Reactome Pathway
RORA activates gene expression
PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Activation of gene expression by SREBF (SREBP)
Transcriptional regulation of white adipocyte differentiation
Regulation of lipid metabolism by PPARalpha
Circadian Clock

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	39792054	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Autoimmune Diseases	Autoimmune disease	Pubtator	22446964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23551967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34341332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	25004093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25004093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32048780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32801999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
NCOA6	[]	7	["PPARA activates gene expression","Transcriptional regulation of white adipocyte differentiation","RORA activates gene expression","Transcriptional activation of mitochondrial biogenesis","Activation of gene expression by SREBF (SREBP)","Regulation of lipid metabolism by PPARalpha","Circadian Clock"]	[]
CHD9	[]	7	["PPARA activates gene expression","Transcriptional regulation of white adipocyte differentiation","RORA activates gene expression","Transcriptional activation of mitochondrial biogenesis","Activation of gene expression by SREBF (SREBP)","Regulation of lipid metabolism by PPARalpha","Circadian Clock"]	[]
TGS1	[]	7	["PPARA activates gene expression","Transcriptional regulation of white adipocyte differentiation","RORA activates gene expression","Transcriptional activation of mitochondrial biogenesis","Activation of gene expression by SREBF (SREBP)","Regulation of lipid metabolism by PPARalpha","Circadian Clock"]	[]
CARM1	[]	7	["PPARA activates gene expression","Transcriptional regulation of white adipocyte differentiation","RORA activates gene expression","Transcriptional activation of mitochondrial biogenesis","Activation of gene expression by SREBF (SREBP)","Regulation of lipid metabolism by PPARalpha","Circadian Clock"]	[]
MED1	[]	7	["PPARA activates gene expression","Transcriptional regulation of white adipocyte differentiation","RORA activates gene expression","Transcriptional activation of mitochondrial biogenesis","Activation of gene expression by SREBF (SREBP)","Regulation of lipid metabolism by PPARalpha","Circadian Clock"]	[]

HELZ2 (helicase with zinc finger 2)

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