ENSG00000038295
Homo sapiens | |
Features
| Gene ID: | ENSG00000038295 | | | | | Biological name : | TLL1 | | | | | Synonyms : | O43897 / TLL1 / tolloid like 1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | 1 | | Band: | q32.3 | | Gene start: | 165873258 | | Gene end: | 166103895 | | | | | Corresponding Affymetrix probe sets: | 1555071_at (Human Genome U133 Plus 2.0 Array) 206415_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000423748
Ensembl peptide - ENSP00000061240
Ensembl peptide - ENSP00000426082
Ensembl peptide - ENSP00000421732
Ensembl peptide - ENSP00000422937
Ensembl peptide - ENSP00000422692
NCBI entrez gene - 7092
See in Manteia.
OMIM - 606742
RefSeq - XM_017008570
RefSeq - NM_001204760
RefSeq - NM_012464
RefSeq - XM_011532214
RefSeq Peptide - NP_036596
RefSeq Peptide - NP_001191689
swissprot - D6RAK5
swissprot - O43897
swissprot - D6RCE0
swissprot - D6RBI6
swissprot - E9PD25
Ensembl - ENSG00000038295
| | | | | Related genetic diseases (OMIM): | 613087 - Atrial septal defect 6, 613087 |
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)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
| | HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
Show
| | HP:0001662 | Bradycardia | |
Show
| | HP:0005110 | Atrial fibrillation | |
Show
|
Interacting proteins (from Reactome)
0 s.
|
