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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7552
Gene name Gene Name - the full gene name approved by the HGNC.	Zinc finger protein 711
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ZNF711
Synonyms (NCBI Gene) Gene synonyms aliases	CMPX1, MRX65, MRX97, XLID97, ZNF4, ZNF5, ZNF6, Zfp711, dJ75N13.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	XLID97
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with cognitive disability. [provi

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199422240	A>T	Pathogenic	Coding sequence variant, stop gained
rs1060505032	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060505033	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555970404	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555974716	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603009115	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained

Show/Hide all(212)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017955	hsa-miR-335-5p	Microarray	18185580
MIRT031177	hsa-miR-19b-3p	Sequencing	20371350
MIRT031317	hsa-miR-18a-5p	Sequencing	20371350
MIRT046981	hsa-miR-218-5p	CLASH	23622248
MIRT043601	hsa-miR-151a-3p	CLASH	23622248
MIRT040430	hsa-miR-615-3p	CLASH	23622248
MIRT328168	hsa-miR-5692a	PAR-CLIP	20371350
MIRT367102	hsa-miR-543	PAR-CLIP	20371350
MIRT571510	hsa-miR-5680	PAR-CLIP	20371350
MIRT367101	hsa-miR-802	PAR-CLIP	20371350
MIRT367103	hsa-miR-3143	PAR-CLIP	20371350
MIRT328167	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT328168	hsa-miR-5692a	PAR-CLIP	20371350
MIRT571512	hsa-miR-132-3p	PAR-CLIP	20371350
MIRT571511	hsa-miR-212-3p	PAR-CLIP	20371350
MIRT367102	hsa-miR-543	PAR-CLIP	20371350
MIRT571510	hsa-miR-5680	PAR-CLIP	20371350
MIRT367101	hsa-miR-802	PAR-CLIP	20371350
MIRT367103	hsa-miR-3143	PAR-CLIP	20371350
MIRT328167	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT110174	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT564608	hsa-miR-551b-5p	PAR-CLIP	20371350
MIRT367071	hsa-miR-5700	PAR-CLIP	20371350
MIRT367069	hsa-miR-5579-5p	PAR-CLIP	20371350
MIRT564607	hsa-miR-569	PAR-CLIP	20371350
MIRT367067	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT367070	hsa-miR-4666b	PAR-CLIP	20371350
MIRT367108	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT367109	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT367114	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT367118	hsa-miR-3666	PAR-CLIP	20371350
MIRT367113	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT367117	hsa-miR-4295	PAR-CLIP	20371350
MIRT367107	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT504973	hsa-miR-6512-5p	PAR-CLIP	20371350
MIRT367106	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT504972	hsa-miR-6847-3p	PAR-CLIP	20371350
MIRT367115	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT504971	hsa-miR-5701	PAR-CLIP	20371350
MIRT504970	hsa-miR-675-3p	PAR-CLIP	20371350
MIRT504969	hsa-miR-297	PAR-CLIP	20371350
MIRT367116	hsa-miR-3149	PAR-CLIP	20371350
MIRT328121	hsa-miR-548a-5p	PAR-CLIP	23446348
MIRT328133	hsa-miR-548ab	PAR-CLIP	23446348
MIRT328134	hsa-miR-548ad-5p	PAR-CLIP	23446348
MIRT328135	hsa-miR-548ae-5p	PAR-CLIP	23446348
MIRT328136	hsa-miR-548ak	PAR-CLIP	23446348
MIRT328137	hsa-miR-548am-5p	PAR-CLIP	23446348
MIRT328138	hsa-miR-548ap-5p	PAR-CLIP	23446348
MIRT328139	hsa-miR-548aq-5p	PAR-CLIP	23446348
MIRT328140	hsa-miR-548ar-5p	PAR-CLIP	23446348
MIRT328141	hsa-miR-548as-5p	PAR-CLIP	23446348
MIRT328142	hsa-miR-548au-5p	PAR-CLIP	23446348
MIRT328145	hsa-miR-548ay-5p	PAR-CLIP	23446348
MIRT328120	hsa-miR-548b-5p	PAR-CLIP	23446348
MIRT328147	hsa-miR-548bb-5p	PAR-CLIP	23446348
MIRT328122	hsa-miR-548c-5p	PAR-CLIP	23446348
MIRT328123	hsa-miR-548d-5p	PAR-CLIP	23446348
MIRT328127	hsa-miR-548h-5p	PAR-CLIP	23446348
MIRT328128	hsa-miR-548i	PAR-CLIP	23446348
MIRT328124	hsa-miR-548j-5p	PAR-CLIP	23446348
MIRT328132	hsa-miR-548o-5p	PAR-CLIP	23446348
MIRT328130	hsa-miR-548w	PAR-CLIP	23446348
MIRT328131	hsa-miR-548y	PAR-CLIP	23446348
MIRT328119	hsa-miR-559	PAR-CLIP	23446348
MIRT328144	hsa-miR-548av-5p	PAR-CLIP	23446348
MIRT328125	hsa-miR-548k	PAR-CLIP	23446348
MIRT328146	hsa-miR-8054	PAR-CLIP	23446348
MIRT328126	hsa-miR-548l	PAR-CLIP	23446348
MIRT504977	hsa-miR-4803	PAR-CLIP	23446348
MIRT328117	hsa-miR-34a-3p	PAR-CLIP	23446348
MIRT328118	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT328143	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT504976	hsa-miR-4691-3p	PAR-CLIP	23446348
MIRT504975	hsa-miR-6830-3p	PAR-CLIP	23446348
MIRT328129	hsa-miR-3157-5p	PAR-CLIP	23446348
MIRT504974	hsa-miR-511-5p	PAR-CLIP	23446348
MIRT367108	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT367109	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT367114	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT367118	hsa-miR-3666	PAR-CLIP	23446348
MIRT367113	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT367117	hsa-miR-4295	PAR-CLIP	23446348
MIRT367107	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT504973	hsa-miR-6512-5p	PAR-CLIP	23446348
MIRT367106	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT504972	hsa-miR-6847-3p	PAR-CLIP	23446348
MIRT367115	hsa-miR-3140-3p	PAR-CLIP	23446348
MIRT504971	hsa-miR-5701	PAR-CLIP	23446348
MIRT504970	hsa-miR-675-3p	PAR-CLIP	23446348
MIRT504969	hsa-miR-297	PAR-CLIP	23446348
MIRT367116	hsa-miR-3149	PAR-CLIP	23446348
MIRT328168	hsa-miR-5692a	PAR-CLIP	20371350
MIRT367102	hsa-miR-543	PAR-CLIP	20371350
MIRT571510	hsa-miR-5680	PAR-CLIP	20371350
MIRT367101	hsa-miR-802	PAR-CLIP	20371350
MIRT367103	hsa-miR-3143	PAR-CLIP	20371350
MIRT328167	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT328168	hsa-miR-5692a	PAR-CLIP	20371350
MIRT571512	hsa-miR-132-3p	PAR-CLIP	20371350
MIRT571511	hsa-miR-212-3p	PAR-CLIP	20371350
MIRT367102	hsa-miR-543	PAR-CLIP	20371350
MIRT571510	hsa-miR-5680	PAR-CLIP	20371350
MIRT367101	hsa-miR-802	PAR-CLIP	20371350
MIRT367103	hsa-miR-3143	PAR-CLIP	20371350
MIRT328167	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT110174	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT564608	hsa-miR-551b-5p	PAR-CLIP	20371350
MIRT367071	hsa-miR-5700	PAR-CLIP	20371350
MIRT367069	hsa-miR-5579-5p	PAR-CLIP	20371350
MIRT564607	hsa-miR-569	PAR-CLIP	20371350
MIRT367067	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT367070	hsa-miR-4666b	PAR-CLIP	20371350
MIRT367108	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT367109	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT367114	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT367118	hsa-miR-3666	PAR-CLIP	20371350
MIRT367113	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT367117	hsa-miR-4295	PAR-CLIP	20371350
MIRT367107	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT504973	hsa-miR-6512-5p	PAR-CLIP	20371350
MIRT367106	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT504972	hsa-miR-6847-3p	PAR-CLIP	20371350
MIRT367115	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT504971	hsa-miR-5701	PAR-CLIP	20371350
MIRT504970	hsa-miR-675-3p	PAR-CLIP	20371350
MIRT504969	hsa-miR-297	PAR-CLIP	20371350
MIRT367116	hsa-miR-3149	PAR-CLIP	20371350
MIRT328121	hsa-miR-548a-5p	PAR-CLIP	23446348
MIRT328133	hsa-miR-548ab	PAR-CLIP	23446348
MIRT328134	hsa-miR-548ad-5p	PAR-CLIP	23446348
MIRT328135	hsa-miR-548ae-5p	PAR-CLIP	23446348
MIRT328136	hsa-miR-548ak	PAR-CLIP	23446348
MIRT328137	hsa-miR-548am-5p	PAR-CLIP	23446348
MIRT328138	hsa-miR-548ap-5p	PAR-CLIP	23446348
MIRT328139	hsa-miR-548aq-5p	PAR-CLIP	23446348
MIRT328140	hsa-miR-548ar-5p	PAR-CLIP	23446348
MIRT328141	hsa-miR-548as-5p	PAR-CLIP	23446348
MIRT328142	hsa-miR-548au-5p	PAR-CLIP	23446348
MIRT328145	hsa-miR-548ay-5p	PAR-CLIP	23446348
MIRT328120	hsa-miR-548b-5p	PAR-CLIP	23446348
MIRT328147	hsa-miR-548bb-5p	PAR-CLIP	23446348
MIRT328122	hsa-miR-548c-5p	PAR-CLIP	23446348
MIRT328123	hsa-miR-548d-5p	PAR-CLIP	23446348
MIRT328127	hsa-miR-548h-5p	PAR-CLIP	23446348
MIRT328128	hsa-miR-548i	PAR-CLIP	23446348
MIRT328124	hsa-miR-548j-5p	PAR-CLIP	23446348
MIRT328132	hsa-miR-548o-5p	PAR-CLIP	23446348
MIRT328130	hsa-miR-548w	PAR-CLIP	23446348
MIRT328131	hsa-miR-548y	PAR-CLIP	23446348
MIRT328119	hsa-miR-559	PAR-CLIP	23446348
MIRT328144	hsa-miR-548av-5p	PAR-CLIP	23446348
MIRT328125	hsa-miR-548k	PAR-CLIP	23446348
MIRT328146	hsa-miR-8054	PAR-CLIP	23446348
MIRT328126	hsa-miR-548l	PAR-CLIP	23446348
MIRT504977	hsa-miR-4803	PAR-CLIP	23446348
MIRT328117	hsa-miR-34a-3p	PAR-CLIP	23446348
MIRT328118	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT328143	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT504976	hsa-miR-4691-3p	PAR-CLIP	23446348
MIRT504975	hsa-miR-6830-3p	PAR-CLIP	23446348
MIRT328129	hsa-miR-3157-5p	PAR-CLIP	23446348
MIRT504974	hsa-miR-511-5p	PAR-CLIP	23446348
MIRT367108	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT367109	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT367114	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT367118	hsa-miR-3666	PAR-CLIP	23446348
MIRT367113	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT367117	hsa-miR-4295	PAR-CLIP	23446348
MIRT367107	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT504973	hsa-miR-6512-5p	PAR-CLIP	23446348
MIRT367106	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT504972	hsa-miR-6847-3p	PAR-CLIP	23446348
MIRT367115	hsa-miR-3140-3p	PAR-CLIP	23446348
MIRT504971	hsa-miR-5701	PAR-CLIP	23446348
MIRT504970	hsa-miR-675-3p	PAR-CLIP	23446348
MIRT504969	hsa-miR-297	PAR-CLIP	23446348
MIRT367116	hsa-miR-3149	PAR-CLIP	23446348
MIRT1537123	hsa-miR-1273e	CLIP-seq
MIRT1537124	hsa-miR-3121-3p	CLIP-seq
MIRT1537125	hsa-miR-3671	CLIP-seq
MIRT1537126	hsa-miR-412	CLIP-seq
MIRT1537127	hsa-miR-4327	CLIP-seq
MIRT1537128	hsa-miR-4695-3p	CLIP-seq
MIRT1537129	hsa-miR-4796-3p	CLIP-seq
MIRT1537130	hsa-miR-511	CLIP-seq
MIRT1537131	hsa-miR-548h	CLIP-seq
MIRT1537132	hsa-miR-548j	CLIP-seq
MIRT1537133	hsa-miR-548p	CLIP-seq
MIRT1537134	hsa-miR-629	CLIP-seq
MIRT2162295	hsa-miR-3126-3p	CLIP-seq
MIRT2162296	hsa-miR-4446-5p	CLIP-seq
MIRT2381384	hsa-miR-150	CLIP-seq
MIRT2381385	hsa-miR-200b	CLIP-seq
MIRT2381386	hsa-miR-200c	CLIP-seq
MIRT2381387	hsa-miR-30a	CLIP-seq
MIRT2381388	hsa-miR-30b	CLIP-seq
MIRT2381389	hsa-miR-30c	CLIP-seq
MIRT2381390	hsa-miR-30d	CLIP-seq
MIRT2381391	hsa-miR-30e	CLIP-seq
MIRT2381392	hsa-miR-429	CLIP-seq
MIRT2381393	hsa-miR-4495	CLIP-seq
MIRT2381394	hsa-miR-4693-3p	CLIP-seq
MIRT2381395	hsa-miR-4713-5p	CLIP-seq
MIRT2381396	hsa-miR-4781-3p	CLIP-seq
MIRT2381397	hsa-miR-532-3p	CLIP-seq
MIRT2381398	hsa-miR-548a-3p	CLIP-seq
MIRT2381399	hsa-miR-548e	CLIP-seq
MIRT2381400	hsa-miR-548f	CLIP-seq
MIRT2381401	hsa-miR-562	CLIP-seq
MIRT2381402	hsa-miR-653	CLIP-seq
MIRT2381403	hsa-miR-944	CLIP-seq

Show/Hide all(7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20346720
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	20346720
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0043565	Function	Sequence-specific DNA binding	IDA	20346720
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	20346720
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
314990	13128	ENSG00000147180

Protein

UniProt ID

Q9Y462

Protein name

Zinc finger protein 711 (Zinc finger protein 6)

Protein function

Transcription regulator required for brain development (PubMed:20346720). Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activated expression of genes involved

PDB

9CJA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04704	Zfx_Zfy_act	65 → 318	Zfx / Zfy transcription activation region	Family
PF04704	Zfx_Zfy_act	316 → 368	Zfx / Zfy transcription activation region	Family
PF00096	zf-C2H2	383 → 405	Zinc finger, C2H2 type	Domain
PF13909	zf-H2C2_5	476 → 501		Domain
PF00096	zf-C2H2	505 → 527	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	590 → 613	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	619 → 641	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	676 → 698	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	704 → 727	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in neural tissues. {ECO:0000269|PubMed:20346720}.

Sequence

MDSGGGSLGLHTPDSRMAHTMIMQDFVAGMAGTAHIDGDHIVVSVPEAVLVSDVVTDDGI
TLDHGLAAEVVHGPDIITETDVVTEGVIVPEAVLEADVAIEEDLEEDDGDHILTSELITE
TVRVPEQVFVADLVTGPNGHLEHVVQDCVSGVDSPTMVSEEVLVTNSDTETVIQAAGGVP
GSTVTIKTEDDDDDDVKSTSEDYLMISLDDVGEKLEHMGNTPLKIGSDGSQEDAKEDGFG
SEVIKVYIFKAEAEDDVEIGGTEIVTESEYTSGHSVAGVLDQSRMQREKMVYMAVKDSSQ
EEDDIRDERRVSRRYEDCQASGNTLDSALESRSSTAAQYLQICDGINTNKVLKQKAKKRR
RGETRQWQTAVIIGPDGQPLTVYPCHICTKKFKSRGFLKRHMKNHPDHLMRKKYQCTDCD
FTTNKKVSFHNHLESHKLINKVDKTHEFTEYTRRYREASPLSSNKLILRDKEPKMHKCKY
CDYETAEQGLLNRHLLAVHSKNFPHVCVECGKGFRHPSELKKHMRTHTGEKPYQCQYCIF
RCADQSNLKTHIKSKHGNNLPYKCEHCPQAFGDERELQRHLDLFQGHKTHQCPHCDHKST
NSSDLKRHIISVHTKDFPHKCEVCDKGFHRPSELKKHSDIHKGRKIHQCRHCDFKTSDPF
ILSGHILSVHTKDQPLKCKRCKRGFRQQNELKKHMKTHTGRKIYQCEYCEYSTTDASGFK
RHVISIHTKDYPHRCEFCKKGFRRPSEKNQHIMRHHKEALM

Sequence length

761

Interactions

View interactions

	Reactome
			Generic Transcription Pathway

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Severe intellectual disability, Moderate intellectual disability, Mental Retardation, X-Linked, Mental Retardation, X-Linked, Znf711-Related, Mental Retardation, X-Linked Nonsyndromic, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	19377476, 27993705, 21384559, 28630650
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391	19377476, 27993705
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	Mental Retardation, X-Linked 1	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352 View all (405 more)	19377476
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Neurodevelopmental Disorders	X-linked complex neurodevelopmental disorder			GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Graves Ophthalmopathy	Associate	36076300
Intellectual Disability	Associate	34992252
Leukemia Myeloid Acute	Associate	31164492
Mental Retardation X Linked	Associate	19377476, 20346720

ZNF711 (zinc finger protein 711)