ENSG00000125780
Homo sapiens | |
Features
| Gene ID: | ENSG00000125780 | | | | | Biological name : | TGM3 | | | | | Synonyms : | Q08188 / TGM3 / transglutaminase 3 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 20 | | Strand: | 1 | | Band: | p13 | | Gene start: | 2296001 | | Gene end: | 2341078 | | | | | Corresponding Affymetrix probe sets: | 206004_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000370867
NCBI entrez gene - 7053
See in Manteia.
OMIM - 600238
RefSeq - NM_003245
RefSeq Peptide - NP_003236
swissprot - Q08188
Ensembl - ENSG00000125780
| | | | | Related genetic diseases (OMIM): | 617251 - ?Uncombable hair syndrome 2, 617251 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
| | HP:0001118 | Juvenile cataracts | |
Show
| | HP:0002208 | Coarse hair | |
Show
| | HP:0002224 | Woolly hair | |
Show
| | HP:0002229 | Alopecia areata | |
Show
| | HP:0002235 | Pili canaliculi | "Uncombable hair." [HPO:probinson] |
Show
| | HP:0002552 | Trichodysplasia | |
Show
| | HP:0003593 | Early onset | |
Show
| | HP:0011364 | White hair | "Hypopigmented hair that appears white." [DDD:cmoss] |
Show
| | HP:0030056 | Uncombable hair | "Hair that is disorderly, stands out from the scalp, and cannot be combed flat." [] |
Show
|
Interacting proteins (from Reactome)
No match
0 s.
|
