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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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

TPR_8

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15213	TTC39B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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