ENSG00000187045
Homo sapiens | |
Features
| Gene ID: | ENSG00000187045 | | | | | Biological name : | TMPRSS6 | | | | | Synonyms : | Q8IU80 / TMPRSS6 / transmembrane serine protease 6 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 22 | | Strand: | -1 | | Band: | q12.3 | | Gene start: | 37065436 | | Gene end: | 37109563 | | | | | Corresponding Affymetrix probe sets: | 214955_at (Human Genome U133 Plus 2.0 Array) 232941_at (Human Genome U133 Plus 2.0 Array) 234367_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000385453
Ensembl peptide - ENSP00000400317
Ensembl peptide - ENSP00000397691
Ensembl peptide - ENSP00000392433
Ensembl peptide - ENSP00000334962
Ensembl peptide - ENSP00000371211
Ensembl peptide - ENSP00000384964
NCBI entrez gene - 164656
See in Manteia.
OMIM - 609862
RefSeq - NM_153609
RefSeq - XM_011529989
RefSeq - NM_001289000
RefSeq - NM_001289001
RefSeq Peptide - NP_001275929
RefSeq Peptide - NP_001275930
RefSeq Peptide - NP_705837
swissprot - B0QYB3
swissprot - Q8IU80
swissprot - B0QYB6
swissprot - X6REP5
Ensembl - ENSG00000187045
| | | | | Related genetic diseases (OMIM): | 206200 - Iron-refractory iron deficiency anemia, 206200 |
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: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] |
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| | HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| | HP:0000980 | Pallor | |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001406 | Intrahepatic cholestasis | |
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| | HP:0002242 | Abnormality of the intestines | |
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| | HP:0004447 | Poikilocytosis | |
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| | HP:0004840 | hypochromic, microcytic anemia | |
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| | HP:0008064 | Ichthyosiform abnormality of the skin | |
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| | HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| | HP:0011273 | Anisocytosis | "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] |
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| | HP:0011967 | Hypocupremia | "A reduced concentration of `copper` (CHEBI:28694) in the `blood` (FMA:9670)." [HPO:probinson] |
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Interacting proteins (from Reactome)
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