TTC39B - tetratricopeptide repeat domain 39B Gene

Also Known as C9orf52

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 158219

About TTC39B

Cytogenetic location: 9p22.3 Genomic coordinates (GRCh38): 9:15,163,622-15,307,216 (from NCBI)

This gene has 9 transcripts (splice variants), 257 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 3.7), gall bladder (RPKM 3.5) and 25 other tissues.

Summary

Predicted to be involved in several processes, including Cholesterol homeostasis; negative regulation of Cholesterol storage; and regulation of Cholesterol efflux. [provided by Alliance of Genome Resources, Apr 2022]

TTC39B Products (5)

mRNA Protein Name
NM_001168339.2 NP_001161811.2 tetratricopeptide repeat protein 39B isoform 2
NM_001168340.2 NP_001161812.2 tetratricopeptide repeat protein 39B isoform 3
NM_001168341.2 NP_001161813.2 tetratricopeptide repeat protein 39B isoform 4
NM_001168342.2 NP_001161814.1 tetratricopeptide repeat protein 39B isoform 5
NM_152574.3 NP_689787.3 tetratricopeptide repeat protein 39B isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

TTC39B Protein Structure

DUF3808

DUF3808: Protein of unknown function (DUF3808) (142 - 598)

TPR_8

TPR_8: Tetratricopeptide repeat (629 - 652)

  • 0
  • 200
  • 400
  • 600
  • 682 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 39B

  • TPR repeat protein 39B

Related Diseases

Diseases Alias
Hypoalphalipoproteinemia, Primary, 1

  • Familial Hdl Deficiency

  • Fha

  • High Density Lipoprotein Deficiency

  • Familial Hypoalphalipoproteinemia

  • Hypoalphalipoproteinemia, Familial

  • Hdld

  • Fhd

  • Hdl Deficiency, Type 2

  • Primary Hypoalphalipoproteinemia 1

  • Hdl Cholesterol, Low Serum

  • Hdlc

  • Hdl Deficiency, Familial, 1

  • Hypoalphalipoproteinemia, Primary

  • Low Serum Hdl Cholesterol

  • Primary Hypoalphalipoproteinemia

  • FHA1

  • Hdld2

  • High Density Lipoprotein Deficiency 2

  • Hypoalphalipoproteinemias

  • Apolipoprotein A-I Deficiency
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15213 TTC39B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris TTC39B VGNC VGNC:47957
Mus musculus TTC39B MGD MGI:1917113
Bos taurus TTC39B VGNC VGNC:36476
Felis catus TTC39B VGNC VGNC:66671
Rattus norvegicus TTC39B RGD RGD:1305797
Macaca mulatta TTC39B VGNC VGNC:79402
Others TTC39B NCBI