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Trait

Abnormal function of filtrating structures in kidney

Clinical name: Renal tubular dysfunction

Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.

HPO HP:0000124

Summary

Also called
Renal tubular defect
Body system
Abnormality of the genitourinary system

34 genes linked to Abnormal function of filtrating structures in kidney

Changes in these genes cause rare conditions in which Abnormal function of filtrating structures in kidney is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
SLC5A2solute carrier family 5 member 2AlwaysIn 1 condition
CTNScystinosin, lysosomal cystine transporterVery often (80–99%)In 1 condition
COA8cytochrome c oxidase assembly factor 8Often (30–79%)In 1 condition
GNASGNAS complex locusOften (30–79%)In 1 condition
SLC7A7solute carrier family 7 member 7Often (30–79%)In 1 condition
TRMT5tRNA methyltransferase 5Often (30–79%)In 1 condition
VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homologOften (30–79%)In 1 condition
VPS33BVPS33B late endosome and lysosome associatedOften (30–79%)In 1 condition
ABCC8ATP binding cassette subfamily C member 8Sometimes (5–29%)In 1 condition
GCKglucokinaseSometimes (5–29%)In 1 condition
INSinsulinSometimes (5–29%)In 1 condition
KCNJ11potassium inwardly rectifying channel subfamily J member 11Sometimes (5–29%)In 1 condition
MMUTmethylmalonyl-CoA mutaseSometimes (5–29%)In 1 condition
PDX1pancreatic and duodenal homeobox 1Sometimes (5–29%)In 1 condition
STAT3signal transducer and activator of transcription 3Sometimes (5–29%)In 1 condition
IARS2isoleucyl-tRNA synthetase 2, mitochondrialRarely (1–4%)In 1 condition
KCNJ2potassium inwardly rectifying channel subfamily J member 2Rarely (1–4%)In 1 condition
KCNJ5potassium inwardly rectifying channel subfamily J member 5Rarely (1–4%)In 1 condition
ATP7BATPase copper transporting betaNot recordedIn 1 condition
COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10Not recordedIn 1 condition
COX15cytochrome c oxidase assembly factor COX15Not recordedIn 1 condition
COX6B1cytochrome c oxidase subunit 6B1Not recordedIn 1 condition
FASTKD2FASTK mitochondrial RNA regulator 2Not recordedIn 1 condition
GATMglycine amidinotransferaseNot recordedIn 1 condition
MT-TNmitochondrially encoded tRNA-Asn (AAU/C)Not recordedIn 1 condition
MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1Not recordedIn 1 condition
PEX19peroxisomal biogenesis factor 19Not recordedIn 1 condition
PHEXphosphate regulating endopeptidase X-linkedNot recordedIn 1 condition
SCO1synthesis of cytochrome C oxidase 1Not recordedIn 1 condition
SCO2synthesis of cytochrome C oxidase 2Not recordedIn 1 condition
SLC2A2solute carrier family 2 member 2Not recordedIn 1 condition
SLC34A3solute carrier family 34 member 3Not recordedIn 1 condition
SURF1SURF1 cytochrome c oxidase assembly factorNot recordedIn 1 condition
TACO1translational activator of cytochrome c oxidase INot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Abnormal kidney function

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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