TTC7B - tetratricopeptide repeat domain 7B Gene

Homo sapiens

Also known as TTC7L1; c14_5685

Gene ID: 145567 | Gene type: protein coding

About TTC7B

Cytogenetic location: 14q32.11 Genomic coordinates (GRCh38): 14:90,524,564-90,816,430 (from NCBI)

This gene has 15 transcripts (splice variants), 211 orthologues and 14 paralogues. Ubiquitous expression in brain (RPKM 16.7), fat (RPKM 9.9) and 25 other tissues.

Summary

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

TTC7B Products(3)

mRNA	Protein	Name
NM_001010854.2	NP_001010854.1	tetratricopeptide repeat protein 7B isoform 1
NM_001320421.2	NP_001307350.1	tetratricopeptide repeat protein 7B isoform 2
NM_001401365.1	NP_001388294.1	tetratricopeptide repeat protein 7B isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23229899	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phosphatidylinositol phosphate biosynthetic process	IDA IDA: Inferred from direct assay	23229899	GOA
involved in protein localization to plasma membrane	IDA IDA: Inferred from direct assay	23229899	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	23229899	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23229899	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

TTC7B Protein Structure

TPR_9

TPR_11

TPR_8

TPR_2

0
200
400
600
843 a.a.

Protein Preferred Names

Protein Names

tetratricopeptide repeat protein 7B

TPR repeat protein 7-like-1

Related Diseases

Diseases

Alias

Hypomyelinating Leukoencephalopathy

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome	Fipa
Gastrointestinal Defects And Immunodeficiency Syndrome	Multiple Gastrointestinal Atresias
Familial Isolated Pituitary Adenoma	Intestinal Atresia, Multiple
Multiple Intestinal Atresia	GIDID1
Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency	Minat
Gidid	Meddra:10028210
Familial Isolated Pituitary Adenoma Syndrome	Intestinal Atresia Multiple
Combined Immunodeficiency-Enteropathy Spectrum	Cid-Mia/Early-Onset Ibd
Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency	Mia
Gastrointestinal Defect And Immunodeficiency Syndrome	Pituitary Adenoma Predisposition
Pituitary Adenoma, Familial Isolated

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-RS15219	TTC7B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TTC7B	RGD	RGD:1305920
Mus musculus	TTC7B	MGD	MGI:2144724
Macaca mulatta	TTC7B	VGNC	VGNC:79205
Bos taurus	TTC7B	VGNC	VGNC:36481
Felis catus	TTC7B	VGNC	VGNC:66676
Canis familiaris	TTC7B	VGNC	VGNC:47962

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