Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23414
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein, FOG family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZFPM2
Synonyms (NCBI Gene) Gene synonyms aliases
DIH3, FOG2, SRXY9, ZC2HC11B, ZNF89B, hFOG-2
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004621 hsa-miR-141-3p Luciferase reporter assay, Western blot 20005803
MIRT004621 hsa-miR-141-3p Luciferase reporter assay, Western blot 20005803
MIRT004621 hsa-miR-141-3p Luciferase reporter assay, Western blot 20005803
MIRT004622 hsa-miR-200a-3p Luciferase reporter assay, Western blot 20005803
MIRT004622 hsa-miR-200a-3p Luciferase reporter assay, Western blot 20005803
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603693 16700 ENSG00000169946
Protein
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MicroRNAs in cancer   Factors involved in megakaryocyte development and platelet production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
46, XY Sex Reversal 46,xy sex reversal 9 rs606231252, rs200834568 N/A
Congenital diaphragmatic hernia Diaphragmatic hernia 3 rs121908602, rs121908604 N/A
Double Outlet Right Ventricle double outlet right ventricle rs397514520, rs397514521 N/A
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.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Brugada Syndrome Brugada syndrome N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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