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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23414
Gene name	Zinc finger protein, FOG family member 2
Gene symbol	ZFPM2
Synonyms (NCBI Gene)	DIH3FOG2SRXY9ZC2HC11BZNF89BhFOG-2
Chromosome	8
Chromosome location	8q23.1
Summary	The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in ma

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908601	A>C,G	Likely-benign, benign, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs121908602	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004621	hsa-miR-141-3p	Luciferase reporter assayWestern blot	20005803
MIRT004621	hsa-miR-141-3p	Luciferase reporter assayWestern blot	20005803
MIRT004621	hsa-miR-141-3p	Luciferase reporter assayWestern blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assayWestern blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assayWestern blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assayWestern blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Reporter assay	20005803
MIRT004622	hsa-miR-200a-3p	Reporter assay	20005803
MIRT004624	hsa-miR-200c-3p	Reporter assay	20005803
MIRT004621	hsa-miR-141-3p	Reporter assay	20005803
MIRT004623	hsa-miR-200b-3p	Reporter assay	20005803
MIRT028872	hsa-miR-26b-5p	Microarray	19088304
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	24412919
MIRT1511988	hsa-miR-1269	CLIP-seq
MIRT1511989	hsa-miR-1269b	CLIP-seq
MIRT1511990	hsa-miR-1288	CLIP-seq
MIRT1511991	hsa-miR-1299	CLIP-seq
MIRT1511992	hsa-miR-138	CLIP-seq
MIRT1511993	hsa-miR-140-3p	CLIP-seq
MIRT1511994	hsa-miR-200b	CLIP-seq
MIRT1511995	hsa-miR-200c	CLIP-seq
MIRT1511996	hsa-miR-3140-3p	CLIP-seq
MIRT1511997	hsa-miR-3662	CLIP-seq
MIRT1511998	hsa-miR-3686	CLIP-seq
MIRT1511999	hsa-miR-378	CLIP-seq
MIRT1512000	hsa-miR-378b	CLIP-seq
MIRT1512001	hsa-miR-378c	CLIP-seq
MIRT1512002	hsa-miR-378d	CLIP-seq
MIRT1512003	hsa-miR-378e	CLIP-seq
MIRT1512004	hsa-miR-378f	CLIP-seq
MIRT1512005	hsa-miR-378h	CLIP-seq
MIRT1512006	hsa-miR-378i	CLIP-seq
MIRT1512007	hsa-miR-422a	CLIP-seq
MIRT1512008	hsa-miR-4263	CLIP-seq
MIRT1512009	hsa-miR-4515	CLIP-seq
MIRT1512010	hsa-miR-4638-3p	CLIP-seq
MIRT1512011	hsa-miR-4652-3p	CLIP-seq
MIRT1512012	hsa-miR-4740-5p	CLIP-seq
MIRT1512013	hsa-miR-4773	CLIP-seq
MIRT1512014	hsa-miR-4782-5p	CLIP-seq
MIRT1512015	hsa-miR-4799-5p	CLIP-seq
MIRT1512016	hsa-miR-516b	CLIP-seq
MIRT1512017	hsa-miR-576-5p	CLIP-seq
MIRT2154144	hsa-miR-3120-3p	CLIP-seq
MIRT2154145	hsa-miR-3157-5p	CLIP-seq
MIRT2154146	hsa-miR-4691-3p	CLIP-seq
MIRT2154147	hsa-miR-512-5p	CLIP-seq
MIRT2154148	hsa-miR-545	CLIP-seq
MIRT2666896	hsa-miR-106a	CLIP-seq
MIRT2666897	hsa-miR-106b	CLIP-seq
MIRT2666898	hsa-miR-1284	CLIP-seq
MIRT2666899	hsa-miR-130a	CLIP-seq
MIRT2666900	hsa-miR-130b	CLIP-seq
MIRT2666901	hsa-miR-142-5p	CLIP-seq
MIRT2666902	hsa-miR-17	CLIP-seq
MIRT2666903	hsa-miR-19a	CLIP-seq
MIRT2666904	hsa-miR-19b	CLIP-seq
MIRT2666905	hsa-miR-20a	CLIP-seq
MIRT2666906	hsa-miR-20b	CLIP-seq
MIRT2666907	hsa-miR-301a	CLIP-seq
MIRT2666908	hsa-miR-301b	CLIP-seq
MIRT2666909	hsa-miR-340	CLIP-seq
MIRT2666910	hsa-miR-3609	CLIP-seq
MIRT2666911	hsa-miR-3666	CLIP-seq
MIRT2666912	hsa-miR-3920	CLIP-seq
MIRT2666913	hsa-miR-4293	CLIP-seq
MIRT2666914	hsa-miR-4295	CLIP-seq
MIRT2666915	hsa-miR-454	CLIP-seq
MIRT2666916	hsa-miR-4686	CLIP-seq
MIRT2666917	hsa-miR-4796-3p	CLIP-seq
MIRT2666918	hsa-miR-519a	CLIP-seq
MIRT2666919	hsa-miR-519b-3p	CLIP-seq
MIRT2666920	hsa-miR-519c-3p	CLIP-seq
MIRT2666921	hsa-miR-519d	CLIP-seq
MIRT2666922	hsa-miR-548ah	CLIP-seq
MIRT2666923	hsa-miR-93	CLIP-seq
MIRT2666901	hsa-miR-142-5p	CLIP-seq
MIRT2666909	hsa-miR-340	CLIP-seq
MIRT2666916	hsa-miR-4686	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10438528
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IMP	20807224
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003221	Process	Right ventricular cardiac muscle tissue morphogenesis	IMP	20807224
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	10438528
GO:0003714	Function	Transcription corepressor activity	IDA	10438528
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	10438528, 19723756, 20705609, 21220346, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007506	Process	Gonadal mesoderm development	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	10438528
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	IMP	20705609
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	20206639
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10438528
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IMP	20807224
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	10438528
GO:2000020	Process	Positive regulation of male gonad development	IEA
GO:2000195	Process	Negative regulation of female gonad development	IEA

MIM	HGNC	e!Ensembl
603693	16700	ENSG00000169946

Q8WW38

Protein name

Zinc finger protein ZFPM2 (Friend of GATA protein 2) (FOG-2) (Friend of GATA 2) (hFOG-2) (Zinc finger protein 89B) (Zinc finger protein multitype 2)

Protein function

Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a hetero

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12874	zf-met	1119 → 1139		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low level. {ECO:0000269|PubMed:10438528}.

Sequence

MSRRKQSKPRQIKRPLEDAIEDEEEECPSEETDIISKGDFPLEESFSTEFGPENLSCEEV
EYFCNKGDDEGIQETAESDGDTQSEKPGQPGVETDDWDGPGELEVFQKDGERKIQSRQQL
PVGTTWGPFPGKMDLNNNSLKTKAQVPMVLTAGPKWLLDVTWQGVEDNKNNCIVYSKGGQ
LWCTTTKAISEGEELIAFVVDFDSRLQAASQMTLTEGMYPARLLDSIQLLPQQAAMASIL
PTAIVNKDIFPCKSCGIWYRSERNLQAHLMYYCSGRQREAAPVSEENEDSAHQISSLCPF
PQCTKSFSNARALEMHLNSHSGVKMEEFLPPGASLKCTVCSYTADSVINFHQHLFSHLTQ
AAFRCNHCHFGFQTQRELLQHQELHVPSGKLPRESDMEHSPSATEDSLQPATDLLTRSEL
PQSQKAMQTKDASSDTELDKCEKKTQLFLTNQRPEIQPTTNKQSFSYTKIKSEPSSPRLA
SSPVQPNIGPSFPVGPFLSQFSFPQDITMVPQASEILAKMSELVHRRLRHGSSSYPPVIY
SPLMPKGATCFECNITFNNLDNYLVHKKHYCSSRWQQMAKSPEFPSVSEKMPEALSPNTG
QTSINLLNPAAHSADPENPLLQTSCINSSTVLDLIGPNGKGHDKDFSTQTKKLSTSSNND
DKINGKPVDVKNPSVPLVDGESDPNKTTCEACNITFSRHETYMVHKQYYCATRHDPPLKR
SASNKVPAMQRTMRTRKRRKMYEMCLPEQEQRPPLVQQRFLDVANLNNPCTSTQEPTEGL
GECYHPRCDIFPGIVSKHLETSLTINKCVPVSKCDTTHSSVSCLEMDVPIDLSKKCLSQS
ERTTTSPKRLLDYHECTVCKISFNKVENYLAHKQNFCPVTAHQRNDLGQLDGKVFPNPES
ERNSPDVSYERSIIKCEKNGNLKQPSPNGNLFSSHLATLQGLKVFSEAAQLIATKEENRH
LFLPQCLYPGAIKKAKGADQLSPYYGIKPSDYISGSLVIHNTDIEQSRNAENESPKGQAS
SNGCAALKKDSLPLLPKNRGMVIVNGGLKQDERPAANPQQENISQNPQHEDDHKSPSWIS
ENPLAANENVSPGIPSAEEQLSSIAKGVNGSSQAPTSGKYCRLCDIQFNNLSNFITHKKF
YCSSHAAEHVK

Sequence length

1151

Interactions

View interactions

	KEGG		Reactome
	MicroRNAs in cancer		Factors involved in megakaryocyte development and platelet production

307

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY sex reversal 9	Likely pathogenic; Pathogenic	rs1404513559, rs1195263093, rs606231252	RCV001730105 RCV001993188 RCV000144724
Diaphragmatic hernia 3	Pathogenic; Likely pathogenic	rs2536827502, rs121908602, rs121908604, rs1813907455, rs1814012663	RCV002285126 RCV000006503 RCV000006505 RCV001269307 RCV001269308
Double outlet right ventricle	Pathogenic	rs397514520, rs397514521	RCV000032714 RCV000032717
ZFPM2-related disorder	Likely pathogenic	rs1811964183	RCV003897282

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
46,XY sex reversal 3	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs121908601, rs121908603, rs202217256, rs182216711, rs187043152, rs376235097, rs374581095, rs575054307, rs533177469, rs763555819	RCV001007696 RCV001007705 RCV001007699 RCV001007700 RCV001007702 RCV001007701 RCV001007698 RCV001007697 RCV001007703 RCV001007704
Cervical cancer	Benign	rs138466839	RCV005900385
Hepatocellular carcinoma	Benign	rs11990012	RCV005915952
Ovarian serous cystadenocarcinoma	Benign	rs138466839	RCV005900386
Tetralogy of Fallot	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs1290587796, rs750762877, rs149902904, rs139881948, rs28374544, rs121908601, rs121908603, rs3735953, rs775854541, rs187043152, rs201729935, rs200311467, rs1814052830, rs1814103683	RCV001331729 RCV001331730 RCV002494097 RCV002507931 RCV000006501 RCV000006502 RCV005394128 RCV002244630 RCV005392692 RCV000032716 RCV005392248 RCV000678773 RCV001197231 RCV001197971
Uterine carcinosarcoma	Benign	rs11990012	RCV005915953
Uterine corpus endometrial carcinoma	Benign	rs138466839	RCV005900387

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XY female	Associate	31962012
Alzheimer Disease	Associate	35347084, 35669784
Astrocytoma	Associate	26207917
Atrioventricular Septal Defect	Associate	25996639
Axenfeld Rieger syndrome	Associate	25813279
Azoospermia Nonobstructive	Associate	36017582
Breast Neoplasms	Associate	30822522, 33215431
Carcinogenesis	Associate	31298319
Carcinoma Hepatocellular	Associate	32744687, 33102579, 34603293, 36524359, 39202457
Carcinoma Renal Cell	Associate	31298319, 35258173
Cardiac Output Low	Associate	35119225
Colorectal Neoplasms	Associate	31796117
Colorectal Neoplasms	Stimulate	33300060
Conotruncal cardiac defects	Associate	25025186
Coronary Artery Disease	Associate	31679650
Cryptorchidism	Associate	27899089
Diabetes Mellitus Type 2	Associate	31679650
DiGeorge Syndrome	Associate	25981510
Disorder of Sex Development 46 XY	Associate	31962012, 33202802
Disorders of Sex Development	Associate	31962012, 33202802, 37413951
Esophageal Squamous Cell Carcinoma	Associate	32065218
Fatty Liver	Associate	39202457
Fibrosis	Associate	39202457
Genetic Diseases Inborn	Associate	29241932
Glaucoma Open Angle	Associate	25414181
Glioma	Associate	26207917
Gonadal Dysgenesis 46 XY	Associate	25813279
Granulosa Cell Tumor	Associate	23029311
Heart Defects Congenital	Associate	25981510, 35119225
Heredodegenerative Disorders Nervous System	Associate	35347084
Hernias Diaphragmatic Congenital	Associate	21525063, 35119225
Hypercholesterolemia	Associate	31405227
Infertility Male	Associate	27899089
Liver Cirrhosis	Associate	28691020
Liver Diseases	Associate	39202457
Liver Failure	Associate	39202457
Lung Neoplasms	Associate	26314828, 32561925
Lymphatic Metastasis	Associate	31298319, 35258173
Lymphatic Metastasis	Stimulate	33215431, 33300060
Metabolic Syndrome	Associate	31405227
Nasopharyngeal Carcinoma	Associate	32633364
Neoplasm Metastasis	Stimulate	31298319, 32561925, 32744687, 33215431
Neoplasm Metastasis	Associate	35258173
Neoplasms	Associate	30347759, 31298319, 32065218, 33215431
Neoplasms	Stimulate	33300060, 36524359
Neural Tube Defects	Associate	15705784
Neuroblastoma	Inhibit	19707195
Neuroblastoma	Associate	26207917
Obesity	Associate	28373160, 34638758
Obesity Metabolically Benign	Associate	34638758
Osteoporosis	Associate	33778083
Osteoporotic Fractures	Associate	33778083
Ovarian Neoplasms	Associate	23029311, 26207917
Pallister Killian syndrome	Associate	25329894
Retinoblastoma	Stimulate	32561925
Retinoblastoma	Associate	34989314
Sertoli Leydig Cell Tumor	Associate	23029311
Sex Cord Gonadal Stromal Tumors	Associate	23029311
Tetralogy of Fallot	Associate	25025186, 25981510
Thecoma	Associate	23029311
Thyroiditis Autoimmune	Associate	26955881
Triple Negative Breast Neoplasms	Associate	34326372
Uterine Cervical Neoplasms	Associate	33300060
Venous Thromboembolism	Associate	28373160

ZFPM2 (zinc finger protein, FOG family member 2)