Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9401
Gene name Gene Name - the full gene name approved by the HGNC.	RecQ like helicase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RECQL4
Synonyms (NCBI Gene) Gene synonyms aliases	RECQ4
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and tes

Show/Hide all(84)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34134064	AC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs34666647	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs35346077	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs61755066	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs117642173	C>T	Pathogenic	Splice acceptor variant
rs137853229	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs137853230	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs137853232	G>A	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs148912524	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs190388213	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201815449	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs202045203	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs368081792	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs368989729	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs372380880	C>T	Pathogenic	Splice acceptor variant, intron variant
rs373130543	C>T	Likely-pathogenic	Splice donor variant, non coding transcript variant, missense variant, coding sequence variant
rs386833843	A>-	Pathogenic	Splice donor variant
rs386833844	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833845	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833846	CCCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833847	TCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833848	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386833849	C>A,G,T	Likely-pathogenic, pathogenic	Intron variant, splice acceptor variant
rs386833850	A>C,G	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, intron variant, non coding transcript variant, synonymous variant, missense variant
rs386833851	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386833852	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386833853	T>A,G	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs398124117	C>G,T	Pathogenic	Splice acceptor variant
rs552960344	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs557284122	A>C	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant, missense variant
rs746303718	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs746691436	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs748604051	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant
rs752301125	C>G,T	Likely-pathogenic	Splice acceptor variant, missense variant, coding sequence variant
rs752729755	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs754134346	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs758790200	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs760363252	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs762028333	C>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs768749064	A>C,G	Likely-pathogenic	Synonymous variant, non coding transcript variant, splice donor variant, coding sequence variant, intron variant
rs770709355	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs771349728	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs771538008	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs773765879	TC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs778141083	AC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs780542343	AAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786200887	AGGCCGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786200889	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs786200890	CTGTGA>-	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant
rs878854644	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs878854645	->TT	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs886043102	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1054186954	G>A,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1060501383	AGGGGC>GGGGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307090	C>A	Likely-pathogenic	Splice donor variant
rs1176959485	C>A,T	Likely-pathogenic	Splice donor variant
rs1215700016	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1220902289	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1356876749	C>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1402322681	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1406641581	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1457411812	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1483085748	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554896308	->TGCTGCGCTCCTCATCCTGC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1554896691	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554897134	GTGCTTACCTGTGGGCCAGGGCCTGGAGCTGGGCAGGGC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1554898257	ACAGCCCGCACATCTGGCCGGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1554898541	T>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1554899720	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554899728	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554901674	C>T	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs1564790457	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1564791894	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, missense variant
rs1564794448	->GGCCC	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1564802464	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564804342	CC>G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564804479	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1586790519	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, splice donor variant
rs1586791537	C>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1586791945	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1586794620	C>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, splice donor variant
rs1586795055	CA>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1586795973	A>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1586819343	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016439	hsa-miR-193b-3p	Microarray	20304954
MIRT039905	hsa-miR-615-3p	CLASH	23622248
MIRT2313899	hsa-miR-3609	CLIP-seq
MIRT2313900	hsa-miR-520g	CLIP-seq
MIRT2313901	hsa-miR-520h	CLIP-seq
MIRT2313902	hsa-miR-548ac	CLIP-seq
MIRT2313903	hsa-miR-548ae	CLIP-seq
MIRT2313904	hsa-miR-548ah	CLIP-seq
MIRT2313905	hsa-miR-548aj	CLIP-seq
MIRT2313906	hsa-miR-548am	CLIP-seq
MIRT2313907	hsa-miR-548d-3p	CLIP-seq
MIRT2313908	hsa-miR-548x	CLIP-seq
MIRT2313909	hsa-miR-548z	CLIP-seq

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
HDAC1	Repression	15674334
SP1	Activation	15674334
SP1	Unknown	10552928
TP53	Activation	15674334

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000405	Function	Bubble DNA binding	IDA	19177149
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IMP	22039056
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000781	Component	Chromosome, telomeric region	IMP	22039056
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	22039056
GO:0005515	Function	Protein binding	IPI	21044950, 22039056
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	22039056
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9878247
GO:0006310	Process	DNA recombination	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032357	Function	Oxidized purine DNA binding	IDA	22039056
GO:0043138	Function	3'-5' DNA helicase activity	IMP	19177149
GO:0046872	Function	Metal ion binding	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0061820	Process	Telomeric D-loop disassembly	IDA	22039056
GO:0061820	Process	Telomeric D-loop disassembly	IGI	22039056
GO:0061821	Function	Telomeric D-loop binding	IDA	22039056
GO:0140097	Function	Catalytic activity, acting on DNA	IEA
GO:1990814	Function	DNA/DNA annealing activity	IDA	19177149

MIM	HGNC	e!Ensembl
603780	9949	ENSG00000160957

Protein

UniProt ID

O94761

Protein name

ATP-dependent DNA helicase Q4 (EC 5.6.2.4) (DNA 3'-5' helicase RecQ4) (DNA helicase, RecQ-like type 4) (RecQ4) (RTS) (RecQ protein-like 4)

Protein function

An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) b

PDB

2KMU , 5LST

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11719	Drc1-Sld2	4 → 112	DNA replication and checkpoint protein	Family
PF00270	DEAD	482 → 652	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	683 → 809	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in thymus and testis. {ECO:0000269|PubMed:9878247}.

Sequence

MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLR
SSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAG
PALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLS
QRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEAS
AFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPG
EPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQ
KHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPA
SEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQA
FRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQ
VSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVA
FACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAE
EPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALL
RTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDR
PDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFL
AVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGH
ERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALA
HRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGV
RRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSV
AFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVR
CDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLAT
EELLQVAR

Sequence length

1208

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Baller-Gerold Syndrome	baller-gerold syndrome	rs386833845, rs1586834813, rs1554899728, rs1060501384, rs386833843, rs1827432061, rs768749064, rs1406641581, rs1554904685, rs1815370807, rs766312203, rs1586791945, rs1050860620, rs1220902289, rs1060501370 View all (88 more)	N/A
Rapadilino Syndrome	rapadilino syndrome	rs386833844, rs386833853, rs137853230, rs137853231, rs386833846, rs386833854, rs386833847, rs752729755, rs386833849, rs386833851, rs386833852, rs771538008, rs386833845, rs386833843	N/A
Rothmund-Thomson Syndrome	rothmund-thomson syndrome type 2, rothmund-thomson syndrome	rs771538008, rs137853229, rs117642173, rs766312203, rs1554903709, rs770709355, rs752729755, rs1554896308, rs1554898257, rs398124117, rs137853232, rs377589237, rs1564804479, rs386833849, rs34134064 View all (6 more)	N/A
Congenital Heart Disease	congenital heart disease	rs386833852	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar
Multiple myeloma	multiple myeloma	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	39519399
Aging Premature	Associate	10620009, 20451470, 23650516, 26455304
Anodontia	Associate	35086131
Bloom Syndrome	Associate	23650516
Breast Neoplasms	Associate	23894508, 24072219, 26690729, 30947698, 36126066, 36323529
Calcinosis Cutis	Stimulate	34477047
Carcinogenesis	Associate	25424877, 31604778
Carcinoma Hepatocellular	Associate	34486474
Carcinoma Small Cell	Associate	24518840
Carcinoma Squamous Cell	Associate	37456212
Cell Transformation Neoplastic	Associate	36871012
Cholangiocarcinoma	Associate	32040444
Chromosomal Instability	Associate	19567405
Chromosome 8 trisomy	Associate	28039508
Colonic Neoplasms	Stimulate	34477047
Colorectal Neoplasms	Associate	15750208, 34361106
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30312871
Craniosynostoses	Associate	15964893
Craniosynostosis radial aplasia syndrome	Associate	15964893, 18716613, 19299466, 22885111, 23161009, 24942867, 25966250
Cutis Laxa Autosomal Recessive Type IIB	Associate	27859906
Developmental Defects of Enamel	Associate	30312871, 36126066
Dysplastic Nevus Syndrome	Associate	23300679
Fanconi Anemia	Associate	28423363
Genetic Diseases Inborn	Associate	19299466, 24942867, 25424877, 25966250, 26455304, 29659569
Growth Disorders	Associate	15964893, 18716613
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23894508, 29659569, 30306255
Iridogoniodysgenesis and skeletal anomalies	Associate	31303264, 34965247
Laryngeal Neoplasms	Associate	17641416
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	40344211
Liposarcoma	Associate	36464833
Lymphoma	Associate	18716613, 24746816
Melanoma	Associate	23300679, 33077847
Mesothelioma	Associate	31887429
Mitochondrial Diseases	Associate	24746816
Musculoskeletal Diseases	Associate	28159839
Neoplasm Invasiveness	Associate	32152520
Neoplasm Metastasis	Associate	17641416, 34477047
Neoplasms	Associate	15750208, 18382428, 18693251, 18716613, 20451470, 23650516, 23894508, 24746816, 24835790, 26455304, 27320928, 27764811, 27859906, 28090586, 29642415 View all (10 more)
Neoplasms	Stimulate	19242607
Neoplasms	Inhibit	26690729, 35236797
Nevus	Associate	23300679
Osseous Heteroplasia Progressive	Associate	28039508
Osteosarcoma	Associate	18716613, 19242607, 20465837, 24518840, 24835790, 28159839, 29367366, 29642415, 29706636, 30312871, 31604778, 34965247
Ovarian Neoplasms	Associate	23965899
Pancreatic Neoplasms	Associate	39256447
Personality Disorders	Associate	26690729
Prostate cancer familial	Associate	29659569
Prostatic Neoplasms	Associate	21045146, 29659569
Prostatitis	Associate	21045146, 36126066
Protein S Deficiency	Stimulate	19242607
Radial Ray Deficiency X Linked	Associate	15964893
Rapadilino syndrome	Associate	15964893, 18716613, 19299466, 22885111, 23161009, 24942867
Rett Syndrome	Associate	12379465, 23894508
Rothmund Thomson Syndrome	Associate	12379465, 15964893, 16809776, 18504617, 18693251, 18716613, 19177149, 19242607, 19299466, 19567405, 20222902, 21045146, 21143835, 22039056, 22885111 View all (26 more)
Skin Diseases	Associate	15924278
Stomach Neoplasms	Associate	33328548, 36970058
Uterine Cervical Neoplasms	Associate	17504382, 23874974
Vitamin D Deficiency	Associate	15750208
Werner Syndrome	Associate	23650516, 23683351

RECQL4 (RecQ like helicase 4)