GFI1B (growth factor independent 1B transcriptional repressor)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8328
Gene name Gene Name - the full gene name approved by the HGNC.
Growth factor independent 1B transcriptional repressor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GFI1B
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT17, ZNF163B
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transc
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs397989794 ->C Pathogenic Frameshift variant, coding sequence variant
rs587777211 C>T Pathogenic Stop gained, coding sequence variant
rs775963992 T>A,C Pathogenic Coding sequence variant, missense variant
rs1554724691 G>A Pathogenic Coding sequence variant, missense variant
rs1554724694 A>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT1016641 hsa-miR-1228 CLIP-seq
MIRT1016642 hsa-miR-124 CLIP-seq
MIRT1016643 hsa-miR-214 CLIP-seq
MIRT1016644 hsa-miR-3120-5p CLIP-seq
MIRT1016645 hsa-miR-3125 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
GATA1 Unknown 19965638;20564185
HMGB2 Activation 19965638
NFYA Unknown 19965638
NFYB Unknown 19965638
NFYC Unknown 19965638
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9566867
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 NAS 15920471
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604383 4238 ENSG00000165702
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5VTD9
Protein name Zinc finger protein Gfi-1b (Growth factor independent protein 1B) (Potential regulator of CDKN1A translocated in CML)
Protein function Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 163 → 186 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 192 → 214 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 220 → 242 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 276 → 298 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 304 → 327 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in bone marrow and fetal liver, but also detectable in fetal spleen, fetal thymus, and testes. Detected in hematopoietic stem cells, erythroblasts, and megakaryocytes. Overexpressed in bone marrow of patients with erythroleuk
Sequence 
MPRSFLVKSKKAHTYHQPRVQEDEPLWPPALTPVPRDQAPSNSPVLSTLFPNQCLDWTNL
KREPELEQDQNLARMAPAPEGPIVLSRPQDGDSPLSDSPPFYKPSFSWDTLATTYGHSYR
QAPSTMQSAFLEHSVSLYGSPLVPSTEPALDFSLRYSPGMDAYHCVKCNKVFSTPHGLEV
HVRRSHSGTRPFACDICGKTFGHAVSLEQHTHVHSQERSFECRMCGKAFKRSSTLSTHLL
IHSDTRPYPCQFCGKRFHQKSDMKKHTYIHTGEKPHKCQVCGKAFSQSSNLITHSRKHTG
FKPFSCELCTKGFQRKVDLRRHRESQHNLK
Sequence length 330
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Platelet-type bleeding disorder Platelet-type bleeding disorder 17 rs1554724694, rs397989794, rs587777211 N/A
storage pool disease of platelets Storage pool disease of platelets rs1564180346 N/A
Show/Hide Unknown Diseases (5)
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
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Macrothrombocytopenia autosomal dominant macrothrombocytopenia N/A N/A GenCC
Platelet Storage Pool Deficiency platelet storage pool deficiency N/A N/A GenCC
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Aplastic Inhibit 17156408
Angiofibroma Associate 37680034
Blood Platelet Disorders Associate 23927492, 30655368, 36700500, 36736831, 38103735
Budd Chiari Syndrome Associate 28983615
Carcinogenesis Associate 33472357
Chromosome Aberrations Associate 24325358
Gray Platelet Syndrome Associate 24325358, 28880435
Hematologic Neoplasms Associate 33472357
Hemorrhage Associate 23927492, 28880435, 30655368, 32633597, 33472357
Idiopathic Interstitial Pneumonias Associate 28821283