Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23530
Gene name Gene Name - the full gene name approved by the HGNC.
Nicotinamide nucleotide transhydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NNT
Synonyms (NCBI Gene) Gene synonyms aliases
GCCD4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GCCD4
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs370273690 T>C,G Pathogenic Missense variant, coding sequence variant, synonymous variant
rs387907232 C>T Pathogenic Coding sequence variant, missense variant
rs387907233 T>C Pathogenic Coding sequence variant, missense variant
rs387907234 G>C Pathogenic Coding sequence variant, missense variant
rs786205344 G>- Pathogenic Genic upstream transcript variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016790 hsa-miR-335-5p Microarray 18185580
MIRT025238 hsa-miR-34a-5p Proteomics 21566225
MIRT048367 hsa-miR-29b-3p CLASH 23622248
MIRT046012 hsa-miR-125b-5p CLASH 23622248
MIRT045755 hsa-miR-125a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001933 Process Negative regulation of protein phosphorylation IEA
GO:0003957 Function NAD(P)+ transhydrogenase (B-specific) activity TAS 9524818
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane TAS 10673423
GO:0005746 Component Mitochondrial respirasome TAS 10673423
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607878 7863 ENSG00000112992
Protein
UniProt ID Q13423
Protein name NAD(P) transhydrogenase, mitochondrial (EC 7.1.1.1) (Nicotinamide nucleotide transhydrogenase) (Pyridine nucleotide transhydrogenase)
Protein function The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (P
PDB 1DJL , 1PT9 , 1U31
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05222 AlaDh_PNT_N 60 199 Alanine dehydrogenase/PNT, N-terminal domain Domain
PF01262 AlaDh_PNT_C 203 437 Alanine dehydrogenase/PNT, C-terminal domain Domain
PF12769 PNTB_4TM 501 587 4TM region of pyridine nucleotide transhydrogenase, mitoch Family
PF02233 PNTB 620 1079 NAD(P) transhydrogenase beta subunit Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. {ECO:0000269|PubMed:22634753}.
Sequence
MANLLKTVVTGCSCPLLSNLGSCKGLRVKKDFLRTFYTHQELWCKAPVKPGIPYKQLTVG
VPKEIFQNEKRVALSPAGVQNLVKQGFNVVVESGAGEASKFSDDHYRVAGAQIQGAKEVL
ASDLVVKVRAPMVNPTLGVHEADLLKTSGTLISFIYPAQNPELLNKLSQRKTTVLAMDQV
PRVTIAQGYDALSSMANIA
GYKAVVLAANHFGRFFTGQITAAGKVPPAKILIVGGGVAGL
ASAGAAKSMGAIVRGFDTRAAALEQFKSLGAEPLEVDLKESGEGQGGYAKEMSKEFIEAE
MKLFAQQCKEVDILISTALIPGKKAPVLFNKEMIESMKEGSVVVDLAAEAGGNFETTKPG
ELYIHKGITHIGYTDLPSRMATQASTLYSNNITKLLKAISPDKDNFYFDVKDDFDFGTMG
HVIRGTVVMKDGKVIFP
APTPKNIPQGAPVKQKTVAELEAEKAATITPFRKTMSTASAYT
AGLTGILGLGIAAPNLAFSQMVTTFGLAGIVGYHTVWGVTPALHSPLMSVTNAISGLTAV
GGLALMGGHLYPSTTSQGLAALAAFISSVNIAGGFLVTQRMLDMFKR
PTDPPEYNYLYLL
PAGTFVGGYLAALYSGYNIEQIMYLGSGLCCVGALAGLSTQGTARLGNALGMIGVAGGLA
ATLGVLKPGPELLAQMSGAMALGGTIGLTIAKRIQISDLPQLVAAFHSLVGLAAVLTCIA
EYIIEYPHFATDAAANLTKIVAYLGTYIGGVTFSGSLIAYGKLQGLLKSAPLLLPGRHLL
NAGLLAASVGGIIPFMVDPSFTTGITCLGSVSALSAVMGVTLTAAIGGADMPVVITVLNS
YSGWALCAEGFLLNNNLLTIVGALIGSSGAILSYIMCVAMNRSLANVILGGYGTTSTAGG
KPMEISGTHTEINLDNAIDMIREANSIIITPGYGLCAAKAQYPIADLVKMLTEQGKKVRF
GIHPVAGRMPGQLNVLLAEAGVPYDIVLEMDEINHDFPDTDLVLVIGANDTVNSAAQEDP
NSIIAGMPVLEVWKSKQVIVMKRSLGVGYAAVDNPIFYKPNTAMLLGDAKKTCDALQAK
V
RESYQK
Sequence length 1086
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
  Citric acid cycle (TCA cycle)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Congenital hypothyroidism Congenital Hypothyroidism rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Glucocorticoid deficiency Familial Glucocorticoid Deficiency Type 1, Familial glucocorticoid deficiency rs566223651, rs80358231, rs1569025178, rs104894658, rs104894659, rs104894656, rs104894657, rs104894661, rs104894662, rs104894660, rs28940892, rs267607231, rs387907232, rs786205344, rs387907233
View all (22 more)
22634753
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 26634245 ClinVar
Glucocorticoid Deficiency glucocorticoid deficiency 4, familial glucocorticoid deficiency GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Barrett esophagus Barrett esophagus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Addison Disease Associate 27129361, 34193132, 35627102
Adrenal Insufficiency Associate 27129361
Alzheimer Disease Associate 29186589
Bone Diseases Metabolic Associate 35627102
Breast Neoplasms Associate 32190687
Carcinoma Renal Cell Associate 38036719
Cardiomyopathy Hypertrophic Associate 27129361
Cognition Disorders Associate 29186589
Congenital Hypothyroidism Associate 27129361
Cryptorchidism Associate 27129361