| 1316347 | Tmem67 | transmembrane protein 67 | Predicted to enable filamin binding activity; misfolded protein binding activity; and unfolded protein binding activity. Involved in several processes, including epithelial tube branching involved in lung morphogenesis; negative regulation of centrosome duplication; and non-canonical Wnt signaling p athway. Acts upstream of or within determination of left/right symmetry; heart development; and kidney development. Located in cytoplasmic vesicle membrane and endoplasmic reticulum membrane. Part of MKS complex. Is expressed in diencephalon; hindbrain lateral wall; metanephros; and organ of Corti. Used to study Joubert syndrome 6; Meckel syndrome; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple). Orthologous to human TMEM67 (transmembrane protein 67). [provided by Alliance of Genome Resources, Jul 2025] | 4 | 12039355 | 12090020 | Mouse | 235 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1586167 | Tmem67 | transmembrane protein 67 | ENCODES a protein that exhibits misfolded protein binding; filamin binding (ortholog); unfolded protein binding (ortholog); INVOLVED IN cilium assembly; head development; negative regulation of centrosome duplication; PARTICIPATES IN Wnt signaling, non-canonical pathway; ASSOCIATED WITH abnormal blo od-cerebrospinal fluid barrier function; abnormal cerebrospinal fluid flow; abnormal ciliary body morphology; ASSOCIATED WITH autosomal recessive polycystic kidney disease; communicating hydrocephalus; hydrocephalus; FOUND IN axoneme; cytoplasmic vesicle membrane; endoplasmic reticulum membrane; INTERACTS WITH 1,3-dinitrobenzene; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A | 5 | 30333793 | 30386702 | Rat | 221 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1606753 | TMEM67 | transmembrane protein 67 | The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this g ene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008] | 8 | 93754844 | 93832653 | Human | 1026 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 8761819 | Tmem67 | transmembrane protein 67 | ENCODES a protein that exhibits filamin binding (ortholog); misfolded protein binding (ortholog); unfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); cilium assembly (ortholog); determination of left/right symmetry (ortholog); PARTICIPATES IN Wn t signaling, non-canonical pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary membrane (ortholog) | NW_004955417 | 10097488 | 10137959 | Chinchilla | 96 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11975770 | TMEM67 | transmembrane protein 67 | ENCODES a protein that exhibits misfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); determination of left/right symmetry (ortholog); epithelial tube branching involved in lung morphogenesis (ortholog); PARTICIPATES IN Wnt signaling, non-canonic al pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog) | 8 | 90378623 | 90442904 | Bonobo | 91 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12231828 | TMEM67 | transmembrane protein 67 | ENCODES a protein that exhibits misfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); determination of left/right symmetry (ortholog); epithelial tube branching involved in lung morphogenesis (ortholog); PARTICIPATES IN Wnt signaling, non-canonic al pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog) | 29 | 38655531 | 38715774 | Dog | 91 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12485604 | Tmem67 | transmembrane protein 67 | ENCODES a protein that exhibits misfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); determination of left/right symmetry (ortholog); epithelial tube branching involved in lung morphogenesis (ortholog); PARTICIPATES IN Wnt signaling, non-canonic al pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog) | NW_004936544 | 6887867 | 6931669 | Squirrel | 91 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14186306 | TMEM67 | transmembrane protein 67 | ENCODES a protein that exhibits misfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); determination of left/right symmetry (ortholog); epithelial tube branching involved in lung morphogenesis (ortholog); PARTICIPATES IN Wnt signaling, non-canonic al pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog) | | | | Pig | 91 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18921972 | Tmem67 | transmembrane protein 67 | ENCODES a protein that exhibits filamin binding (ortholog); misfolded protein binding (ortholog); unfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); determination of left/right symmetry (ortholog); epithelial tube branching involved in lung mor phogenesis (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary membrane (ortholog) | | | | Naked Mole-Rat | 95 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625853683 | Tmem67 | transmembrane protein 67 | ENCODES a protein that exhibits filamin binding (ortholog); misfolded protein binding (ortholog); unfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); cilium assembly (ortholog); determination of left/right symmetry (ortholog); PARTICIPATES IN Wn t signaling, non-canonical pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary membrane (ortholog) | | | | Black Rat | 88 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18478174 | TMEM67 | transmembrane protein 67 | ENCODES a protein that exhibits misfolded protein binding (ortholog); INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); determination of left/right symmetry (ortholog); epithelial tube branching involved in lung morphogenesis (ortholog); PARTICIPATES IN Wnt signaling, non-canonic al pathway; ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); autosomal recessive polycystic kidney disease (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN axoneme (ortholog) | | | | Green Monkey | 91 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155259077 | tmem67 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 155232506 | tmem67.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 14995943 | Tmem67wpk | transmembrane protein 67; wpk mutant | INVOLVED IN head development; ASSOCIATED WITH abnormal blood-cerebrospinal fluid barrier function; abnormal cerebrospinal fluid flow; abnormal ciliary body morphology; ASSOCIATED WITH autosomal recessive polycystic kidney disease; communicating hydrocephalus; hydrocephalus | | | | Rat | 33 | symbol | gene, allele |