1. Gene
  2. TTC39B - tetratricopeptide repeat domain 39B Gene

TTC39B - tetratricopeptide repeat domain 39B Gene

Homo sapiens

Also known as C9orf52

Gene ID: 158219 | Gene type: protein coding

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

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

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