1. Gene
  2. TTC7A - tetratricopeptide repeat domain 7A Gene

TTC7A - tetratricopeptide repeat domain 7A Gene

Homo sapiens

Also known as TTC7; GIDID; MINAT

Gene ID: 57217 | Gene type: protein coding

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

TTC7A Protein Structure

TPR_9

TPR_9: Tetratricopeptide repeat (392 - 455)

TPR_9

TPR_9: Tetratricopeptide repeat (511 - 575)

TPR_16

TPR_16: Tetratricopeptide repeat (749 - 808)

TPR_1

TPR_1: Tetratricopeptide repeat (814 - 843)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 858 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 7A

TPR repeat protein 7A

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

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