GNPDA2

Last updated
GNPDA2
Identifiers
Aliases GNPDA2 , GNP2, SB52, glucosamine-6-phosphate deaminase 2
External IDs OMIM: 613222 MGI: 1915230 HomoloGene: 12381 GeneCards: GNPDA2
Gene location (Human)
Ideogram human chromosome 4.svg
Chr. Chromosome 4 (human) [1]
Human chromosome 4 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 4p12Start44,682,200 bp [1]
End44,726,588 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001270880
NM_001270881
NM_138335

NM_001038015
NM_027681
NM_001347363
NM_001359239

RefSeq (protein)

NP_001257809
NP_001257810
NP_612208

NP_001033104
NP_001334292
NP_001346168

Location (UCSC) Chr 4: 44.68 – 44.73 Mb Chr 5: 69.57 – 69.59 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Glucosamine-6-phosphate deaminase 2 also known as GNPDA2 is an enzyme that in humans is encoded by the GNPDA2 gene. [5]

Contents

Clinical significance

Variants of the GNPDA2 gene may be associated with obesity. [6] [7] [8]

Related Research Articles

Proprotein convertase 1

Proprotein convertase 1, also known as prohormone convertase, prohormone convertase 3, or neuroendocrine convertase 1 and often abbreviated as PC1/3 is an enzyme that in humans is encoded by the PCSK1 gene. PCSK1 and PCSK2 differentially cleave proopiomelanocortin and they act together to process proinsulin and proglucagon in pancreatic islets.

Apolipoprotein C4

Apolipoprotein C-IV, also known as apolipoprotein C4, is a protein that in humans is encoded by the APOC4 gene.

NPR3

Natriuretic peptide receptor C/guanylate cyclase C , also known as NPR3, is an atrial natriuretic peptide receptor. In humans it is encoded by the NPR3 gene.

MKKS

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

BBS1

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.

GNPDA1

Glucosamine-6-phosphate isomerase 1 is an enzyme that in humans is encoded by the GNPDA1 gene.

BBS2

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.

ATP10A

Probable phospholipid-transporting ATPase VA also known as ATPase class V type 10A (ATP10A) or aminophospholipid translocase VA is an enzyme that in humans is encoded by the ATP10A gene.

TFAP2B A protein that in humans is encoded by the TFAP2B gene

Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.

MKS1

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.

TMEM18

Transmembrane protein 18 also known as TMEM18 is a protein which in humans is encoded by the TMEM18 gene.

NEGR1

Neuronal growth regulator 1 also known as NEGR1 is a protein which in humans is encoded by the NEGR1 gene.

KCTD15

Potassium channel tetramerisation domain containing 15 also known as BTB/POZ domain-containing protein KCTD15 is protein that in humans is encoded by the KCTD15 gene.

MTCH2

Mitochondrial carrier homolog 2 also known as MTCH2 is a protein which in humans is encoded by the MTCH2 gene.

Genetics of obesity

Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors. Studies have identified variants in several genes that may contribute to weight gain and body fat distribution; although, only in a few cases are genes the primary cause of obesity.

FAT4

Protocadherin Fat 4, also known as cadherin family member 14 (CDHF14) or FAT tumor suppressor homolog 4 (FAT4), is a protein that in humans is encoded by the FAT4 gene.

WDR72

WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene. WDR72 contains 7 WD40 repeats, which are predicted to form the blades of a 7 beta propeller structure.

TEKT1

Tektin 1 is a protein that in humans is encoded by the TEKT1 gene.

CDKN2BAS

CDKN2B-AS, also known as ANRIL is a long non-coding RNA consisting of 19 exons, spanning 126.3kb in the genome, and its spliced product is a 3834bp RNA. It is located within the p15/CDKN2B-p16/CDKN2A-p14/ARF gene cluster, in the antisense direction. Single nucleotide polymorphisms (SNPs) which alter the expression of CDKN2B-AS are associated with human healthy life expectancy, as well as with multiple diseases, including coronary artery disease, diabetes and many cancers. It binds to chromobox 7 (CBX7) within the polycomb repressive complex 1 and to SUZ12, a component of polycomb repression complex 2 and through these interactions is involved in transcriptional repression.

Monocarboxylate transporter 9

Monocarboxylate transporter 9 is a protein that in humans is encoded by the SLC16A9 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163281 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029209 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Arreola R, Valderrama B, Morante ML, Horjales E (September 2003). "Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study". FEBS Lett. 551 (1–3): 63–70. doi:10.1016/S0014-5793(03)00896-2. PMID   12965206. S2CID   45050024.
  6. Zhao J, Bradfield JP, Li M, et al. (May 2009). "The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric BMI". Obesity (Silver Spring). 17 (12): 2254–7. doi:10.1038/oby.2009.159. PMC   2860782 . PMID   19478790.
  7. Renström F, Payne F, Nordström A, Brito EC, Rolandsson O, Hallmans G, Barroso I, Nordström P, Franks PW (April 2009). "Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden". Hum. Mol. Genet. 18 (8): 1489–96. doi:10.1093/hmg/ddp041. PMC   2664142 . PMID   19164386.
  8. Willer CJ, Speliotes EK, Loos RJ, et al. (January 2009). "Six new loci associated with body mass index highlight a neuronal influence on body weight regulation". Nat. Genet. 41 (1): 25–34. doi:10.1038/ng.287. PMC   2695662 . PMID   19079261.

Further reading