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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	85446
Gene name	Zinc finger homeobox 2
Gene symbol	ZFHX2
Synonyms (NCBI Gene)	MARSISZFH-5ZFH5ZNF409
Chromosome	14
Chromosome location	14q11.2

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019857	hsa-miR-375	Microarray	20215506
MIRT572540	hsa-miR-586	PAR-CLIP	20371350
MIRT572539	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT572538	hsa-miR-567	PAR-CLIP	20371350
MIRT572537	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT572536	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT572535	hsa-miR-4666b	PAR-CLIP	20371350
MIRT572534	hsa-miR-675-3p	PAR-CLIP	20371350
MIRT572533	hsa-miR-297	PAR-CLIP	20371350
MIRT572532	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT572540	hsa-miR-586	PAR-CLIP	20371350
MIRT572539	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT572538	hsa-miR-567	PAR-CLIP	20371350
MIRT572537	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT572536	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT572535	hsa-miR-4666b	PAR-CLIP	20371350
MIRT572534	hsa-miR-675-3p	PAR-CLIP	20371350
MIRT572533	hsa-miR-297	PAR-CLIP	20371350
MIRT572532	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT1509850	hsa-miR-3155	CLIP-seq
MIRT1509851	hsa-miR-3155b	CLIP-seq
MIRT1509852	hsa-miR-4265	CLIP-seq
MIRT1509853	hsa-miR-4296	CLIP-seq
MIRT1509854	hsa-miR-4322	CLIP-seq
MIRT1509855	hsa-miR-4417	CLIP-seq
MIRT1509856	hsa-miR-4437	CLIP-seq
MIRT1509857	hsa-miR-4641	CLIP-seq
MIRT1509858	hsa-miR-4674	CLIP-seq
MIRT1509859	hsa-miR-4711-3p	CLIP-seq
MIRT1509860	hsa-miR-4755-3p	CLIP-seq
MIRT1509861	hsa-miR-484	CLIP-seq
MIRT1509862	hsa-miR-765	CLIP-seq
MIRT2153554	hsa-miR-2467-3p	CLIP-seq
MIRT2373858	hsa-miR-147	CLIP-seq
MIRT2373859	hsa-miR-3612	CLIP-seq
MIRT2373860	hsa-miR-3911	CLIP-seq
MIRT2373861	hsa-miR-644	CLIP-seq
MIRT2373862	hsa-miR-650	CLIP-seq
MIRT2373863	hsa-miR-940	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	29253101
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0045664	Process	Regulation of neuron differentiation	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051930	Process	Regulation of sensory perception of pain	IEA
GO:0051930	Process	Regulation of sensory perception of pain	IMP	29253101

MIM	HGNC	e!Ensembl
617828	20152	ENSG00000136367

Q9C0A1

Protein name

Zinc finger homeobox protein 2 (Zinc finger homeodomain protein 2) (ZFH-2)

Protein function

Transcriptional regulator that is critical for the regulation of pain perception and processing of noxious stimuli.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	1596 → 1652	Homeodomain	Domain
PF00046	Homeodomain	1858 → 1914	Homeodomain	Domain
PF00046	Homeodomain	2066 → 2122	Homeodomain	Domain

Sequence

MATLNSASTTGTTPSPGHNAPSLPSDTFSSSTPSDPVTKDPPAASSTSENMRSSEPGGQL
LESGCGLVPPKEIGEPQEGPDCGHFPPNDPGVEKDKEQEEEEEGLPPMDLSNHLFFTAGG
EAYLVAKLSLPGGSELLLPKGFPWGEAGIKEEPSLPFLAYPPPSHLTALHIQHGFDPIQG
FSSSDQILSHDTSAPSPAACEERHGAFWSYQLAPNPPGDPKDGPMGNSGGNHVAVFWLCL
LCRLGFSKPQAFMDHTQSHGVKLTPAQYQGLSGSPAVLQEGDEGCKALISFLEPKLPARP
SSDIPLDNSSTVNMEANVAQTEDGPPEAEVQALILLDEEVMALSPPSPPTATWDPSPTQA
KESPVAAGEAGPDWFPEGQEEDGGLCPPLNQSSPTSKEGGTLPAPVGSPEDPSDPPQPYR
LADDYTPAPAAFQGLSLSSHMSLLHSRNSCKTLKCPKCNWHYKYQQTLDVHMREKHPESN
SHCSYCSAGGAHPRLARGESYNCGYKPYRCDVCNYSTTTKGNLSIHMQSDKHLANLQGFQ
AGPGGQGSPPEASLPPSAGDKEPKTKSSWQCKVCSYETNISRNLRIHMTSEKHMQNVLML
HQGLPLGLPPGLMGPGPPPPPGATPTSPPELFQYFGPQALGQPQTPLAGPGLRPDKPLEA
QLLLNGFHHVGAPARKFPTSAPGSLSPDAHLPPSQLLGSSSDSLPTSPPPDDSLSLKVFR
CLVCQAFSTDSLELLLYHCSIGRSLPEAEWKEVAGDTHRCKLCCYGTQLKANFQLHLKTD
KHAQKYQLAAHLREGGGAMGTPSPASLGDGAPYGSVSPLHLRCNICDFESNSKEKMQLHA
RGAAHEENSQIYKFLLDMEGAEAGAELGLYHCLLCAWETPSRLAVLQHLRTPAHRDAQAQ
RRLQLLQNGPTTEEGLAALQSILSFSHGQLRTPGKAPVTPLAEPPTPEKDAQNKTEQLAS
EETENKTGPSRDSANQTTVYCCPYCSFLSPESSQVRAHTLSQHAVQPKYRCPLCQEQLVG
RPALHFHLSHLHNVVPECVEKLLLVATTVEMTFTTKVLSAPTLSPLDNGQEPPTHGPEPT
PSRDQAAEGPNLTPEASPDPLPEPPLASVEVPDKPSGSPGQPPSPAPSPVPEPDAQAEDV
APPPTMAEEEEGTTGELRSAEPAPADSRHPLTYRKTTNFALDKFLDPARPYKCTVCKESF
TQKNILLVHYNSVSHLHKMKKAAIDPSAPARGEAGAPPTTTAATDKPFKCTVCRVSYNQS
STLEIHMRSVLHQTRSRGTKTDSKIEGPERSQEEPKEGETEGEVGTEKKGPDTSGFISGL
PFLSPPPPPLDLHRFPAPLFTPPVLPPFPLVPESLLKLQQQQLLLPFYLHDLKVGPKLTL
AGPAPVLSLPAATPPPPPQPPKAELAEREWERPPMAKEGNEAGPSSPPDPLPNEAARTAA
KALLENFGFELVIQYNEGKQAVPPPPTPPPPEALGGGDKLACGACGKLFSNMLILKTHEE
HVHRRFLPFEALSRYAAQFRKSYDSLYPPLAEPPKPPDGSLDSPVPHLGPPFLVPEPEAG
GTRAPEERSRAGGHWPIEEEESSRGNLPPLVPAGRRFSRTKFTEFQTQALQSFFETSAYP
KDGEVERLASLLGLASRVVVVWFQNARQKARKNACEGGSMPTGGGTGGASGCRRCHATFS
CVFELVRHLKKCYDDQTLEEEEEEAERGEEEEEVEEEEVEEEQGLEPPAGPEGPLPEPPD
GEELSQAEATKAGGKEPEEKATPSPSPAHTCDQCAISFSSQDLLTSHRRLHFLPSLQPSA
PPQLLDLPLLVFGERNPLVAATSPMPGPPLKRKHEDGSLSPTGSEAGGGGEGEPPRDKRL
RTTILPEQLEILYRWYMQDSNPTRKMLDCISEEVGLKKRVVQVWFQNTRARERKGQFRST
PGGVPSPAVKPPATATPASLPKFNLLLGKVDDGTGREAPKREAPAFPYPTATLASGPQPF
LPPGKEATTPTPEPPLPLLPPPPPSEEEGPEEPPKASPESEACSLSAGDLSDSSASSLAE
PESPGAGGTSGGPGGGTGVPDGMGQRRYRTQMSSLQLKIMKACYEAYRTPTMQECEVLGE
EIGLPKRVIQVWFQNARAKEKKAKLQGTAAGSTGGSSEGLLAAQRTDCPYCDVKYDFYVS
CRGHLFSRQHLAKLKEAVRAQLKSESKCYDLAPAPEAPPALKAPPATTPASMPLGAAPTL
PRLAPVLLSGPALAQPPLGNLAPFNSGPAASSGLLGLATSVLPTTTVVQTAGPGRPLPQR
PMPDQTNTSTAGTTDPVPGPPTEPLGDKVSSERKPVAGPTSSSNDALKNLKALKTTVPAL
LGGQFLPFPLPPAGGTAPPAVFGPQLQGAYFQQLYGMKKGLFPMNPMIPQTLIGLLPNAL
LQPPPQPPEPTATAPPKPPELPAPGEGEAGEVDELLTGSTGISTVDVTHRYLCRQCKMAF
DGEAPATAHQRSFCFFGRGSGGSMPPPLRVPICTYHCLACEVLLSGREALASHLRSSAHR
RKAAPPQGGPPISITNAATAASAAVAFAKEEARLPHTDSNPKTTTTSTLLAL

Sequence length

2572

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Indifference to pain, congenital, autosomal dominant	Pathogenic	rs1555344723	RCV000576902	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	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.
CONGENITAL INSENSITIVITY TO PAIN SYNDROME, MARSILI TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZFHX2-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MARSILI SYNDROME	MARSILI SYNDROME	UNIPROT_DG	29253101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33837660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZFHX2 (zinc finger homeobox 2)