1. Gene
  2. TTC7B - tetratricopeptide repeat domain 7B Gene

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

TTC7B Protein Structure

TPR_9

TPR_9: Tetratricopeptide repeat (375 - 439)

TPR_11

TPR_11: TPR repeat (695 - 761)

TPR_8

TPR_8: Tetratricopeptide repeat (768 - 794)

TPR_2

TPR_2: Tetratricopeptide repeat (799 - 828)

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  • 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

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