Harmonizome 3.0

alkaline phosphatase, liver/bone/kidney

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

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]

aquaporin 6, kidney specific

The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]

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]

sporadic kidney cancer gene 1

polycystic kidney disease, infantile severe, with tuberous sclerosis

kidney associated antigen 1

Predicted to be involved in immune response. [provided by Alliance of Genome Resources, Mar 2025]

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]

cadherin 6, type 2, K-cadherin (fetal kidney)

This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]

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 14

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

Leukemia, chronic lymphocytic, susceptibility to, 1

Leukemia, chronic lymphocytic susceptiblity to, 5

Leukemia, chronic lymphocytic, susceptibility to, 3

chronic lymphocytic leukemia up-regulated 1 opposite strand

Chronic obstructive pulmonary disease QTL 17

Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to

Chronic obstructive pulmonary disease QTL 7

Chronic obstructive pulmonary disease QTL 9

chronic lymphocytic leukemia up-regulated 1

Expression of this gene has been shown to be upregulated in some individuals with chronic lymphocytic leukemia (CLL), and has been used for prognostic and diagnostic purposes. This gene was originally identified as a human-specific putative protein-coding gene due to the presence of a peptide (PAp00140670, HIIYSTFLSK) that could have supported translation at this locus. This peptide is not present in more recent builds of PeptideAtlas, and the presence of a protein product at this locus has not been independently verified. For this reason, this gene is being represented as non-coding. Sequence comparisons to other primates indicates that no other primate is predicted to contain an open reading frame. [provided by RefSeq, Feb 2017]

Leukemia, chronic lymphocytic susceptibility to, 4

Spinal muscular atrophy, chronic distal, autosomal recessive

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

Pulmonary disease, chronic obstructive, severe early-onset

Chronic mountain sickness, susceptibility to

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