ENSG00000112992
Homo sapiens | |
Features
| Gene ID: | ENSG00000112992 | | | | | Biological name : | NNT | | | | | Synonyms : | nicotinamide nucleotide transhydrogenase / NNT / Q13423 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | 1 | | Band: | p12 | | Gene start: | 43602692 | | Gene end: | 43707405 | | | | | Corresponding Affymetrix probe sets: | 202783_at (Human Genome U133 Plus 2.0 Array) 202784_s_at (Human Genome U133 Plus 2.0 Array) 238530_at (Human Genome U133 Plus 2.0 Array) 244531_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000343873
Ensembl peptide - ENSP00000427670
Ensembl peptide - ENSP00000426343
Ensembl peptide - ENSP00000425542
Ensembl peptide - ENSP00000424782
Ensembl peptide - ENSP00000421886
Ensembl peptide - ENSP00000421674
Ensembl peptide - ENSP00000264663
NCBI entrez gene - 23530
See in Manteia.
OMIM - 607878
RefSeq - XM_017009293
RefSeq - XM_011514002
RefSeq - XM_011514001
RefSeq - XM_006714461
RefSeq - XM_005248275
RefSeq - XM_005248274
RefSeq - NM_182977
RefSeq - NM_012343
RefSeq Peptide - NP_001317955
RefSeq Peptide - NP_036475
RefSeq Peptide - NP_892022
swissprot - D6RHU2
swissprot - Q13423
swissprot - H0Y9R2
swissprot - H0Y8P5
swissprot - A0A024R0C3
swissprot - D6RAI5
swissprot - E9PCX7
swissprot - D6RCR6
Ensembl - ENSG00000112992
| | | | | Related genetic diseases (OMIM): | 614736 - Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 |
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)
No match
Protein motifs (from Interpro)
| IPR007698 | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain | | IPR007886 | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal | | IPR008142 | Alanine dehydrogenase/NAD(P) transhydrogenase, conserved site-1 | | IPR008143 | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 | | IPR024605 | NAD(P) transhydrogenase, alpha subunit, C-terminal | | IPR026255 | NAD(P) transhydrogenase, alpha subunit | | IPR029035 | DHS-like NAD/FAD-binding domain superfamily | | IPR034300 | NADP transhydrogenase beta-like domain | | IPR036291 | NAD(P)-binding domain superfamily |
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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| | HP:0000127 | Renal salt wasting | |
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| | HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| | HP:0000851 | Congenital hypothyroidism | |
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| | HP:0001325 | Hypoglycemic coma | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| | HP:0002153 | Hyperkalemia | |
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| | HP:0002902 | Hyponatremia | |
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Interacting proteins (from Reactome)
| ENSG00000112992 | NNT / Q13423 / nicotinamide nucleotide transhydrogenase | / complex |
0 s.
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