TTC7A - tetratricopeptide repeat domain 7A Gene

Also Known as TTC7; GIDID; MINAT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57217

About TTC7A

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:46,915,866-47,076,123 (from NCBI)

This gene has 22 transcripts (splice variants), 204 orthologues, 14 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 14.8), bone marrow (RPKM 7.9) and 25 other tissues.

Summary

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

TTC7A Products (4)

mRNA	Protein	Name
NM_001288951.2	NP_001275880.1	tetratricopeptide repeat protein 7A isoform 1
NM_001288953.2	NP_001275882.1	tetratricopeptide repeat protein 7A isoform 3
NM_001288955.2	NP_001275884.1	tetratricopeptide repeat protein 7A isoform 4
NM_020458.4	NP_065191.2	tetratricopeptide repeat protein 7A isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24417819	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein localization to 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

TTC7A Protein Structure

TPR_9

TPR_16

TPR_1

0
200
400
600
800
858 a.a.

Protein Preferred Names	Protein Names
tetratricopeptide repeat protein 7A	TPR repeat protein 7A

TTC7A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TTC7A	Q9ULT0	UBR5	Homo sapiens	O95071	Anti Tag CoIP	33122718
Intra	TTC7A	Q9ULT0	UBR5	Homo sapiens	O95071	Anti Tag CoIP	24417819

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Common Variable Immunodeficiency	Cvid Common Variable Agammaglobulinemia Common Variable Immune Deficiency Acquired Hypogammaglobulinemia Hypogamma-Globulinemia, Acquired Idiopathic Immunoglobulin Deficiency Primary Antibody Deficiency Primary Hypogammaglobulinemia Acquired Agammaglobulinemia Sporadic Hypogammaglobulinemia Common Variable Hypogamma-Globulinemia Immunoglobulin Deficiency, Late-Onset Common Variable Hypogammaglobulinemia Immunodeficiency, Common Variable
Intestinal Atresia
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Lymphoproliferative Syndrome, X-Linked, 2	XLP2 Xiap Deficiency X-Linked Lymphoproliferative Syndrome 2 X-Linked Lymphoproliferative Disease Due To Xiap Deficiency Xiap-Related Lymphoproliferative Disease, X-Linked X-Linked Lymphoproliferative Syndrome Type 2 Xiap Deficiency Syndrome
Diarrhea 5, With Tufting Enteropathy, Congenital	Congenital Diarrhea 5 With Tufting Enteropathy Congenital Tufting Enteropathy DIAR5 Cte Intestinal Epithelial Cell Dysplasia Tufting Enteropathy Ied Intestinal Epithelial Dysplasia Enteropathy, Congenital Tufting Congenital Diarrhoea 5 With Tufting Enteropathy Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities Congenital Enteropathy Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities Non-Syndromic Congenital Tufting Enteropathy Diarrhea, Type 5, With Tufting Enteropathy, Congenital Intestinal Intraepithelial Neoplasia
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Diarrhea 4, Malabsorptive, Congenital	Enteric Anendocrinosis Congenital Malabsorptive Diarrhea 4 DIAR4 Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells Congenital Malabsorptive Diarrhoea 4 Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells Diarrhea, Type 4, Malabsorptive, Congenital
Hepatic Venoocclusive Disease With Immunodeficiency	VODI Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome Hepatic Veno-Occlusive Disease With Immunodeficiency Familial Veno-Occlusive Disease With Immunodeficiency Veno-Occlusive Disease And Immunodeficiency Syndrome Vodi Syndrome Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome
Hypomyelinating Leukoencephalopathy
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	IPEX X-Linked Autoimmunity-Allergic Dysregulation Syndrome Xlaad Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked Ipex Syndrome Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome Iddm-Secretory Diarrhea Syndrome Dmsd Autoimmunity-Immunodeficiency Syndrome, X-Linked Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy Xpid Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked Autoimmune Enteropathy Type 1 Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked Autoimmunity-Immunodeficiency Syndrome X-Linked Iddm Secretory Diarrhea Syndrome Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome X-Linked Autoimmunity-Immunodeficiency Syndrome Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea
Congenital Diarrhea
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis
Chronic Granulomatous Disease	Cgd Granulomatous Disease, Chronic Autosomal Recessive Chronic Granulomatous Disease X-Linked Chronic Granulomatous Disease Bridges-Good Syndrome Congenital Dysphagocytosis Quie Syndrome Chronic Septic Granulomatosis Chronic Granulomatous Disorder Granulomatous Disease Chronic Granulomatous Disease, Chronic, X-Linked

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-RS15218	TTC7A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TTC7A	VGNC	VGNC:66675
Canis familiaris	TTC7A	VGNC	VGNC:47961
Bos taurus	TTC7A	VGNC	VGNC:36480
Rattus norvegicus	TTC7A	RGD	RGD:1306211
Macaca mulatta	TTC7A	VGNC	VGNC:79202
Mus musculus	TTC7A	MGD	MGI:1920999
Others	TTC7A	NCBI