ZFPM1 (zinc finger protein, FOG family member 1)

Gene

• Entrez ID: 161882
• Gene name: Zinc finger protein, FOG family member 1
• Gene symbol: ZFPM1
• Synonyms (NCBI Gene): FOG, FOG1, ZC2HC11A, ZNF408, ZNF89A
• Chromosome: 16
• Chromosome location: 16q24.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437880	hsa-miR-183-5p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT437880	hsa-miR-183-5p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT437881	hsa-miR-200c-3p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT437881	hsa-miR-200c-3p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT694631	hsa-miR-3130-5p	HITS-CLIP	23313552
MIRT694630	hsa-miR-4482-5p	HITS-CLIP	23313552
MIRT694629	hsa-miR-29a-3p	HITS-CLIP	23313552
MIRT694628	hsa-miR-29b-3p	HITS-CLIP	23313552
MIRT694627	hsa-miR-29c-3p	HITS-CLIP	23313552
MIRT694626	hsa-miR-6871-3p	HITS-CLIP	23313552
MIRT694625	hsa-miR-500b-3p	HITS-CLIP	23313552
MIRT694624	hsa-miR-423-3p	HITS-CLIP	23313552
MIRT694623	hsa-miR-601	HITS-CLIP	23313552
MIRT694622	hsa-miR-4764-3p	HITS-CLIP	23313552
MIRT694621	hsa-miR-585-5p	HITS-CLIP	23313552
MIRT694620	hsa-miR-5682	HITS-CLIP	23313552
MIRT439236	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT439236	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT694631	hsa-miR-3130-5p	HITS-CLIP	23313552
MIRT694630	hsa-miR-4482-5p	HITS-CLIP	23313552
MIRT694629	hsa-miR-29a-3p	HITS-CLIP	23313552
MIRT694628	hsa-miR-29b-3p	HITS-CLIP	23313552
MIRT694627	hsa-miR-29c-3p	HITS-CLIP	23313552
MIRT694626	hsa-miR-6871-3p	HITS-CLIP	23313552
MIRT694625	hsa-miR-500b-3p	HITS-CLIP	23313552
MIRT694624	hsa-miR-423-3p	HITS-CLIP	23313552
MIRT694623	hsa-miR-601	HITS-CLIP	23313552
MIRT694622	hsa-miR-4764-3p	HITS-CLIP	23313552
MIRT694621	hsa-miR-585-5p	HITS-CLIP	23313552
MIRT694620	hsa-miR-5682	HITS-CLIP	23313552
MIRT2154136	hsa-miR-1470	CLIP-seq
MIRT2154137	hsa-miR-1913	CLIP-seq
MIRT2154138	hsa-miR-324-3p	CLIP-seq
MIRT2154139	hsa-miR-3937	CLIP-seq
MIRT2154140	hsa-miR-4313	CLIP-seq
MIRT2154141	hsa-miR-4645-5p	CLIP-seq
MIRT2154142	hsa-miR-4673	CLIP-seq
MIRT2154143	hsa-miR-4767	CLIP-seq

Gene ontology (GO)

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	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	15920471
GO:0000785	Component	Chromatin	ISA
GO:0001817	Process	Regulation of cytokine production	IEA
GO:0002295	Process	T-helper cell lineage commitment	IC	21646796
GO:0002376	Process	Immune system process	IEA
GO:0002521	Process	Leukocyte differentiation	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003192	Process	Mitral valve formation	IEA
GO:0003192	Process	Mitral valve formation	ISS
GO:0003195	Process	Tricuspid valve formation	IEA
GO:0003195	Process	Tricuspid valve formation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IGI	15920471
GO:0005515	Function	Protein binding	IPI	12483298, 19513100, 21047798, 21988832, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	15920471
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010724	Process	Regulation of definitive erythrocyte differentiation	IDA	15920471
GO:0010724	Process	Regulation of definitive erythrocyte differentiation	IMP	17207461
GO:0017053	Component	Transcription repressor complex	IDA	15920471
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030219	Process	Megakaryocyte differentiation	IBA
GO:0030219	Process	Megakaryocyte differentiation	IEA
GO:0030219	Process	Megakaryocyte differentiation	ISS
GO:0030220	Process	Platelet formation	IGI	11675338
GO:0030851	Process	Granulocyte differentiation	IEA
GO:0032642	Process	Regulation of chemokine production	IEA
GO:0032713	Process	Negative regulation of interleukin-4 production	IDA	21646796
GO:0032729	Process	Positive regulation of type II interferon production	IDA	21646796
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035162	Process	Embryonic hemopoiesis	ISS
GO:0035855	Process	Megakaryocyte development	IEA
GO:0045637	Process	Regulation of myeloid cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0051241	Process	Negative regulation of multicellular organismal process	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060318	Process	Definitive erythrocyte differentiation	IEA
GO:0060319	Process	Primitive erythrocyte differentiation	IEA
GO:0060377	Process	Negative regulation of mast cell differentiation	IEA
GO:0060377	Process	Negative regulation of mast cell differentiation	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	ISS
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	11675338, 12483298, 15920471

Other IDs

• MIM: 601950
• HGNC: 19762
• e!Ensembl: ENSG00000179588

Protein

• UniProt ID: Q8IX07
• Protein name: Zinc finger protein ZFPM1 (Friend of GATA protein 1) (FOG-1) (Friend of GATA 1) (Zinc finger protein 89A) (Zinc finger protein multitype 1)
• Protein function: Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such
• PDB: 2XU7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	291 → 314	Zinc finger, C2H2 type	Domain
  PF12874	zf-met	974 → 994		Domain

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in hematopoietic tissues. Also expressed in adult cerebellum, stomach, lymph node, liver and pancreas. Expressed in fetal heart, liver and spleen. {ECO:0000269|PubMed:12483298}.
• Sequence:

  MSRRKQSNPRQIKRSLGDMEAREEVQLVGASHMEQKATAPEAPSPPSADVNSPPPLPPPT
  SPGGPKELEGQEPEPRPTEEEPGSPWSGPDELEPVVQDGQRRIRARLSLATGLSWGPFHG
  SVQTRASSPRQAEPSPALTLLLVDEACWLRTLPQALTEAEANTEIHRKDDALWCRVTKPV
  PAGGLLSVLLTAEPHSTPGHPVKKEPAEPTCPAPAHDLQLLPQQAGMASILATAVINKDV
  FPCKDCGIWYRSERNLQAHLLYYCASRQGTGSPAAAATDEKPKETYPNERVCPFPQCRKS
  CPSASSLEIHMRSHSGERPFVCLICLSAFTTKANCERHLKVHTDTLSGVCHSCGFISTTR
  DILYSHLVTNHMVCQPGSKGEIYSPGAGHPATKLPPDSLGSFQQQHTALQGPLASADLGL
  APTPSPGLDRKALAEATNGEARAEPLAQNGGSSEPPAAPRSIKVEAVEEPEAAPILGPGE
  PGPQAPSRTPSPRSPAPARVKAELSSPTPGSSPVPGELGLAGALFLPQYVFGPDAAPPAS
  EILAKMSELVHSRLQQGAGAGAGGAQTGLFPGAPKGATCFECEITFSNVNNYYVHKRLYC
  SGRRAPEDAPAARRPKAPPGPARAPPGQPAEPDAPRSSPGPGAREEGAGGAATPEDGAGG
  RGSEGSQSPGSSVDDAEDDPSRTLCEACNIRFSRHETYTVHKRYYCASRHDPPPRRPAAP
  PGPPGPAAPPAPSPAAPVRTRRRRKLYELHAAGAPPPPPPGHAPAPESPRPGSGSGSGPG
  LAPARSPGPAADGPIDLSKKPRRPLPGAPAPALADYHECTACRVSFHSLEAYLAHKKYSC
  PAAPPPGALGLPAAACPYCPPNGPVRGDLLEHFRLAHGLLLGAPLAGPGVEARTPADRGP
  SPAPAPAASPQPGSRGPRDGLGPEPQEPPPGPPPSPAAAPEAVPPPPAPPSYSDKGVQTP
  SKGTPAPLPNGNHRYCRLCNIKFSSLSTFIAHKKYYCSSHAAEHVK

• Sequence length: 1006

Pathways

Reactome:

RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Factors involved in megakaryocyte development and platelet production

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROMALACIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart defect	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, HPO ClinGen, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	28216155		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	30347759	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31065058, 35347084	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	26035058		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19365556		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	19687298	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	26025128		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29692868	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyserythropoietic Anemia with Thrombocytopenia	Dyserythropoietic Anemia With Thrombocytopenia	BEFREE	14691578		★☆☆☆☆ Found in Text Mining only
Exudative vitreoretinopathy	Exudative Vitreoretinopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exudative vitreoretinopathy 1	Exudative Vitreoretinopathy	BEFREE	29982478		★☆☆☆☆ Found in Text Mining only
Exudative vitreoretinopathy 1	Exudative Vitreoretinopathy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
EXUDATIVE VITREORETINOPATHY 6	Exudative Vitreoretinopathy	UNIPROT_DG	23716654		★☆☆☆☆ Found in Text Mining only
EXUDATIVE VITREORETINOPATHY 6	Exudative Vitreoretinopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EXUDATIVE VITREORETINOPATHY 6	Exudative Vitreoretinopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	23716654, 25323851, 25882705, 26244290, 29982478, 30998249		★☆☆☆☆ Found in Text Mining only
Familial exudative vitreoretinopathy	Exudative Vitreoretinopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28422132	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	31065058, 31074064		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31065058	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26732803, 28167093, 29031781, 29198058, 29602542		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35672669	Associate	★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	16127162		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	31065058	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	25882705		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	25882705		★☆☆☆☆ Found in Text Mining only
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	37968604	Associate	★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 72	Retinitis Pigmentosa	UNIPROT_DG	25882705		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 72	Retinitis Pigmentosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 72	Retinitis Pigmentosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	26503584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	26503584, 28604728, 28604732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	30582441	Associate	★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	14656885, 14691578		★☆☆☆☆ Found in Text Mining only