IKZF5 - IKAROS family zinc finger 5 Gene

Also Known as THC7; PEGASUS; ZNFN1A5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64376

About IKZF5

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:122,990,806-123,008,795 (from NCBI)

This gene has 5 transcripts (splice variants), 265 orthologues, 38 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.4), testis (RPKM 7.5) and 25 other tissues.

Summary

Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

IKZF5 Products (10)

mRNA Protein Name
NM_001271840.1 NP_001258769.1 zinc finger protein Pegasus isoform 1
NM_001372123.1 NP_001359052.1 zinc finger protein Pegasus isoform 1
NM_001372124.1 NP_001359053.1 zinc finger protein Pegasus isoform 2
NM_001372125.1 NP_001359054.1 zinc finger protein Pegasus isoform 1
NM_001372126.1 NP_001359055.1 zinc finger protein Pegasus isoform 1
NM_001372127.1 NP_001359056.1 zinc finger protein Pegasus isoform 1
NM_001372128.1 NP_001359057.1 zinc finger protein Pegasus isoform 1
NM_001372129.1 NP_001359058.1 zinc finger protein Pegasus isoform 2
NM_001372130.1 NP_001359059.1 zinc finger protein Pegasus isoform 2
NM_001372131.1 NP_001359060.1 zinc finger protein Pegasus isoform 2
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
10978333 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10978333 GOA
enables chromatin binding IMP
IMP: Inferred from mutant phenotype
31217188 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15491138 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
15491138 GOA
enables zinc ion binding IMP
IMP: Inferred from mutant phenotype
15491138 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10978333 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IMP
IMP: Inferred from mutant phenotype
31217188 GOA
part of protein-containing complex IMP
IMP: Inferred from mutant phenotype
15491138 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IKZF5 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (97 - 119)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (124 - 147)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 419 a.a.
Protein Preferred Names Protein Names

zinc finger protein Pegasus

  • zinc finger protein, subfamily 1A, 5 (Pegasus)

IKZF5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
IKZF5 Q9H5V7 IKZF3 Homo sapiens Q9UKT9 28514442
Intra
IKZF5 Q9H5V7 IKZF3 Homo sapiens Q9UKT9 33961781
Intra
IKZF5 Q9H5V7 IKZF3 Homo sapiens Q9UKT9 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Thrombocytopenia 7
  • THC7

  • Thrombocytopenia, Autosomal Dominant, 7

Autosomal Thrombocytopenia With Normal Platelets
Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Pseudo-Von Willebrand Disease
  • Bdplt3

  • Von Willebrand Disease, Platelet-Type

  • VWDP

  • Platelet-Type Bleeding Disorder 3

  • Platelet Type-Von Willebrand Disease

  • Pt-Vwd

  • Von Willebrand Disease Platelet-Type

  • Von Willebrand Disease, Platelet Type

  • Pseudo Von Willebrand Disease

  • Bleeding Disorder, Platelet-Type, 3

  • Pseudo-Von Willebrand Disease Type 2b

  • Bleeding Disorder Platelet-Type 3

  • Pseudo-Vwd

Radioulnar Synostosis
  • Radio-Ulnar Synostosis Type 1

Amegakaryocytic Thrombocytopenia, Congenital
  • Congenital Amegakaryocytic Thrombocytopenia

  • CAMT

  • Thrombocytopenia, Congenital Amegakaryocytic

  • Congenital Amegakaryocytic Thrombocytopenic Purpura

  • Thrombocytopenia Congenital Amegakaryocytic

  • Thrombocytopenia, Amegakaryocytic, Congenital

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus IKZF5 MGD MGI:1914393
Canis familiaris IKZF5 VGNC VGNC:41927
Macaca mulatta IKZF5 VGNC VGNC:73590
Bos taurus IKZF5 VGNC VGNC:30106
Rattus norvegicus IKZF5 RGD RGD:1310965
Others IKZF5 NCBI