Protein-coding gene in the species Homo sapiens
TTC7A Identifiers Aliases TTC7A , MINAT, TTC7, GIDID, tetratricopeptide repeat domain 7AExternal IDs OMIM: 609332; MGI: 1920999; HomoloGene: 12515; GeneCards: TTC7A; OMA:TTC7A - orthologs Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p21 Start 46,916,157 bp[1] End 47,076,137 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E4 Start 87,590,314 bp[2] End 87,689,197 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm monocyte thymus pancreatic ductal cell right adrenal gland bone marrow cells lymph node blood upper lobe of left lung appendix
Top expressed in lip otolith organ utricle duodenum jejunum spermatid yolk sac spleen bone marrow lacrimal gland
More reference expression data
BioGPS
Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) NM_001288951 NM_001288953 NM_001288955 NM_020458
RefSeq (protein) NP_001275880 NP_001275882 NP_001275884 NP_065191
NP_082915 NP_001391016 NP_001391017
Location (UCSC) Chr 2: 46.92 – 47.08 Mb Chr 17: 87.59 – 87.69 Mb PubMed search [3] [4]
Wikidata View/Edit Human View/Edit Mouse
Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the TTC7A gene.[5]
^ a b c GRCh38: Ensembl release 89: ENSG00000068724 – Ensembl, May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036918 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Entrez Gene: Tetratricopeptide repeat domain 7A".
Last Update: 2024-01-21T13:31:02Z
Tetratricopeptide repeat domain 7A (TTC7A ) is a protein that in humans is encoded by the TTC7A gene. TPR domain-containing proteins, such as TTC7A , have diverse functions...
Word Count : 1131
Last Update: 2024-06-02T18:32:19Z
protein 150A TP53I3: Putative quinone oxidoreducatse TPO: thyroid peroxidase TTC7A : familial multiple intestinal atresia WBP1: WW domain-binding protein 1...
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Last Update: 2022-04-26T00:35:29Z
The underlying lesion in this condition appears to be a mutation in the TTC7A gene. This gene is located on the short arm of chromosome 2 (2p16). This...
Word Count : 198
Last Update: 2024-01-03T01:40:46Z
notably, Muise identified a novel form of VEOIBD related to mutations in the TTC7A gene and described potential treatments for this incurable disease. He has...
Word Count : 1059
Last Update: 2022-09-15T08:48:07Z
disorder was first reported in 1971. It is due to a mutation in the gene TTC7A on short arm of chromosome 2 (2p16). It is inherited as an autosomal recessive...
Word Count : 1785
Last Update: 2024-02-09T20:06:22Z
Transcobalamin 2 deficiency Immunodeficiency with multiple intestinal atresias (TTC7A deficiency) Hepatic venoocclusive disease with immunodeficiency (VODI) Vici...
Word Count : 1809
Last Update: 2024-05-30T15:13:12Z
TMTC1, TMTC2, TMTC3, TMTC4, TOMM34, TOMM70A TTC1, TTC3, TTC4, TTC5, TTC6, TTC7A , TTC7B, TTC8, TTC9C, TTC12, TTC13, TTC14, TTC15, TTC16, TTC17, TTC18, TTC21A...
Word Count : 1220