Harmonizome 3.0

pro-melanin-concentrating hormone-like 2, pseudogene

Predicted to enable type 1 melanin-concentrating hormone receptor binding activity. Predicted to be involved in negative regulation of dopaminergic synaptic transmission. Predicted to be located in synapse. [provided by Alliance of Genome Resources, Mar 2025]

pro-melanin-concentrating hormone-like 1, pseudogene

Predicted to enable type 1 melanin-concentrating hormone receptor binding activity. Predicted to be involved in negative regulation of dopaminergic synaptic transmission. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

pro-melanin-concentrating hormone

This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015]

melanin-concentrating hormone receptor 2

Predicted to enable G protein-coupled peptide receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

melanin-concentrating hormone receptor 1

The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]

Renal hypodysplasia, nonsyndromic, 1

Papillary thyroid carcinoma with papillary renal neoplasia

Beta-amino acids, renal transport of

Renal failure, progressive, with hypertension

glycosuria 1, renal

papillary renal cell carcinoma (translocation-associated)

This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]

disrupted in renal carcinoma 1

Disruption of DIRC1 by translocation is associated with familial clear cell renal cancer. Overexpression of DIRC1 is associated with tumor progression and poor prognosis in gastric cancer. [provided by RefSeq, Mar 2019]

disrupted in renal carcinoma 3

disrupted in renal carcinoma 2

This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

dipeptidase 1 (renal)

The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 2020]

proline rich 5 (renal)

This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

torticollis, keloids, cryptorchidism and renal dysplasia