Harmonizome 3.0

fat storage-inducing transmembrane protein 2

Enables coenzyme A diphosphatase activity. Involved in several processes, including fatty-acyl-CoA catabolic process; lipid droplet formation; and lipid homeostasis. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in Siddiqi syndrome. [provided by Alliance of Genome Resources, Mar 2025]

fat storage-inducing transmembrane protein 1

Predicted to enable diacylglycerol binding activity and triglyceride binding activity. Predicted to be involved in lipid droplet formation; phospholipid biosynthetic process; and positive regulation of sequestering of triglyceride. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

glycogen synthase kinase 3 alpha

This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]

glycogen synthase kinase 3 beta

The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]

phosphorylase, glycogen; brain

The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]

phosphorylase, glycogen, liver

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

phosphorylase, glycogen, muscle

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

glycogen synthase 1 (muscle)

The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

glycogen synthase 2 (liver)

The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]

refsum disease, adult, with increased pipecolicacidemia

Niemann-Pick disease, type C2

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]

Niemann-Pick disease, type C1

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

Charcot-Marie-Tooth disease, axonal, type 2H

Charcot-Marie-Tooth disease, axonal, type 2G

Graves disease, susceptibility to, 2

Graves disease, susceptiblity to, 1

Graves disease, susceptibility to, X-linked

Chronic obstructive pulmonary disease QTL 14

Parkinson disease 7 domain containing 1

Predicted to enable glyoxalase III activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

Celiac disease, susceptibility to, 8

celiac disease 2

Celiac disease, susceptibility to, 5

Celiac disease, susceptibility to, 6

Celiac disease, susceptibility to, 7

autoimmune disease, susceptibility to, 4

Chronic obstructive pulmonary disease QTL 3

Chronic obstructive pulmonary disease QTL 2

Chronic obstructive pulmonary disease QTL 1

Chronic obstructive pulmonary disease QTL 6

Chronic obstructive pulmonary disease QTL 5

Chronic obstructive pulmonary disease QTL 4

Chronic obstructive pulmonary disease QTL 8

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025]

Bornholm eye disease

polycystic kidney disease 1 (autosomal dominant) pseudogene 1

polycystic kidney disease 1 (autosomal dominant) pseudogene 2

polycystic kidney disease 1 (autosomal dominant) pseudogene 3

polycystic kidney disease 1 (autosomal dominant) pseudogene 4

polycystic kidney disease 1 (autosomal dominant) pseudogene 5

polycystic kidney disease 1 (autosomal dominant) pseudogene 6

polycystic kidney disease 3 (autosomal dominant)

polycystic kidney disease 2 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

polycystic kidney disease 1 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

Oregon eye disease

Coronary heart disease, susceptibility to, 4

gallbladder disease 3

Charcot-Marie-Tooth disease, dominant intermediate 2

Paget disease of bone 6

Paget disease of bone 4

Paget disease of bone 5

Paget disease of bone 1

inflammatory bowel disease 9

inflammatory bowel disease 8

inflammatory bowel disease 3

inflammatory bowel disease 2

inflammatory bowel disease 5

inflammatory bowel disease 4

inflammatory bowel disease 7

inflammatory bowel disease 6

Chronic obstructive pulmonary disease QTL 17

gallbladder disease 2

Peripheral arterial occlusive disease 1

Chronic obstructive pulmonary disease QTL 7

Chronic obstructive pulmonary disease QTL 9

Dowling-Degos disease 3

Fatty liver disease, nonalcoholic, susceptibility to, 2

Fatty liver disease 1, susceptiblity to

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

polycystic kidney disease, infantile severe, with tuberous sclerosis

Autoimmune thyroid disease, susceptibility to, 2

Autoimmune thyroid disease, susceptibility to, 1

Autoimmune thyroid disease, susceptibility to, 4

keratolytic winter erythema (Oudtshoorn skin disease)

myeloproliferative disease associated tumor antigen 5

rippling muscle disease 1

Alzheimer disease-10

Alzheimer disease-11

Alzheimer disease 12

Alzheimer disease-13

Alzheimer disease 14

Alzheimer disease 16

Alzheimer disease 17

polycystic kidney disease 1 like 1

This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

polycystic kidney disease 1-like 2 (gene/pseudogene)

This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]

polycystic kidney disease 1-like 3

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]

Hodgkin disease, susceptibility, pseudoautosomal

Alzheimer disease 6

Alzheimer disease 7

Alzheimer disease 5

Alzheimer disease 8

Alzheimer disease 9

Parkinson disease 16 (susceptibility)

Parkinson disease 10 (susceptibility)

Parkinson disease 12 (susceptibility)

Hirschsprung disease, susceptibility to, 9

Hirschsprung disease modifier 2

Hirschsprung disease, susceptibility to, 5

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008 [PubMed 17965226]). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011]

Hirschsprung disease, short-segment, 3

Hirschsprung disease, short-segment, 2

Inflammatory bowel disease-27

Inflammatory bowel disease-20

Inflammatory bowel disease-21

Inflammatory bowel disease-22

Inflammatory bowel disease-23

Inflammatory bowel disease-24

Inflammatory bowel disease-25

Inflammatory bowel disease-26

chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis)

Parkinson disease 3 (autosomal dominant, Lewy body)

Celiac disease, susceptibility to, 9

Coats disease

Alzheimer disease-15

Chronic obstructive pulmonary disease QTL 13

Chronic obstructive pulmonary disease QTL 12

Chronic obstructive pulmonary disease QTL 11

Chronic obstructive pulmonary disease QTL 10

Chronic obstructive pulmonary disease QTL 16

Chronic obstructive pulmonary disease QTL 15

Chronic obstructive pulmonary disease QTL 19

Chronic obstructive pulmonary disease QTL 18

moyamoya disease 1

moyamoya disease 3

Moyamoya disease 4

Pulmonary disease, chronic obstructive, severe early-onset

Coronary heart disease, susceptibility to, 3

Coronary heart disease, susceptibility to, 2

Coronary heart disease, susceptibility to, 1

Coronary heart disease, suscpetibility to, 9

Coronary heart disease, susceptibility to, 8

Inflammatory bowel disease 11

Inflammatory bowel disease 12

Inflammatory bowel disease-15

Inflammatory bowel disease-16

Inflammatory bowel disease 19

Inflammatory bowel disease-18

Norrie disease (pseudoglioma)

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

polycystic kidney and hepatic disease 1 (autosomal recessive)

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

polycystic kidney disease 2-like 2

Predicted to enable calcium channel activity. Predicted to be involved in detection of mechanical stimulus. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

polycystic kidney disease 2-like 1

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Chronic obstructive pulmonary disease QTL 28

Chronic obstructive pulmonary disease QTL 29

Chronic obstructive pulmonary disease QTL 22

Chronic obstructive pulmonary disease QTL 23

Chronic obstructive pulmonary disease QTL 20

Chronic obstructive pulmonary disease QTL 21

Chronic obstructive pulmonary disease QTL 26

Chronic obstructive pulmonary disease QTL 27

Chronic obstructive pulmonary disease QTL 24

Chronic obstructive pulmonary disease QTL 25

Celiac disease, susceptibility to, 12

Celiac disease, susceptibility to, 13

Celiac disease, susceptibility to, 10

Celiac disease, susceptibility to, 11