KBTBD4 - kelch repeat and BTB domain containing 4 Gene

Also Known as BKLHD4; HSPC252

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55709

About KBTBD4

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,572,197-47,578,970 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 206 orthologues and 11 paralogues. Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues.

KBTBD4 Products (12)

mRNA Protein Name
NM_001318716.2 NP_001305645.1 kelch repeat and BTB domain-containing protein 4 isoform c
NM_001318717.2 NP_001305646.1 kelch repeat and BTB domain-containing protein 4 isoform f
NM_001318718.2 NP_001305647.1 kelch repeat and BTB domain-containing protein 4 isoform e
NM_001318719.2 NP_001305648.1 kelch repeat and BTB domain-containing protein 4 isoform g
NM_001318720.2 NP_001305649.1 kelch repeat and BTB domain-containing protein 4 isoform d
NM_001318721.2 NP_001305650.1 kelch repeat and BTB domain-containing protein 4 isoform b
NM_001318722.2 NP_001305651.1 kelch repeat and BTB domain-containing protein 4 isoform b
NM_001318723.2 NP_001305652.1 kelch repeat and BTB domain-containing protein 4 isoform b
NM_001318724.2 NP_001305653.1 kelch repeat and BTB domain-containing protein 4 isoform b
NM_001318725.2 NP_001305654.1 kelch repeat and BTB domain-containing protein 4 isoform b
NM_016506.7 NP_057590.3 kelch repeat and BTB domain-containing protein 4 isoform b
NM_018095.6 NP_060565.4 kelch repeat and BTB domain-containing protein 4 isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 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

KBTBD4 Protein Structure

BTB

BTB: BTB/POZ domain (39 - 139)

BACK

BACK: BTB And C-terminal Kelch (147 - 227)

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

kelch repeat and BTB domain-containing protein 4

  • BTB and kelch domain containing 4

Related Diseases

Diseases Alias
Pineal Parenchymal Tumor Of Intermediate Differentiation
  • Pineal Parenchymal Tumour Of Intermediate Differentiation

  • Pineal Parenchymal Tumors Of Intermediate Differentiation

  • Pptid

Pineal Gland Cancer
  • Tumor Of The Pineal Region

  • Malignant Pineal Region Tumor

  • Malignant Tumor Of Pineal Gland

  • Neoplasm Of Pineal Gland

  • Neoplasm Of The Pineal Region

  • Pineal Body Neoplasm

  • Pineocytic Tumor

  • Malignant Neoplasm Of Pineal Gland

  • Pineal Gland Neoplasm

  • Pineocytoma

Pineoblastoma
  • Pineal Pnet

  • Pinealoma

  • Pineal Gland Neoplasm

  • Pineocytoma

  • Tumor Of The Pineal Region

Adult Medulloblastoma
  • Adult Brain Medulloblastoma

  • Medulloblastoma, Adult

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Medulloblastoma Predisposition Syndrome

  • Medulloblastoma, Somatic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Adult Hepatocellular Carcinoma
  • Adult Primary Hepatocellular Carcinoma

  • Adult Hepatoma

  • Adult Hcc

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
Canis familiaris KBTBD4 VGNC VGNC:42225
Rattus norvegicus KBTBD4 RGD RGD:1310234
Bos taurus KBTBD4 VGNC VGNC:30417
Mus musculus KBTBD4 MGD MGI:1914386
Macaca mulatta KBTBD4 VGNC VGNC:73899
Felis catus KBTBD4 VGNC VGNC:63034
Others KBTBD4 NCBI