| 14388762 | tars-1 | | | | | | Roundworm | | symbol | gene, null |
| 1347839 | TARS1 | threonyl-tRNA synthetase 1 | Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRN A synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008] | 5 | 33440696 | 33468091 | Human | 300 | symbol , ensembl_gene_symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1359527 | Tars1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits ATP binding (ortholog); identical protein binding (ortholog); threonine-tRNA ligase activity (ortholog); INVOLVED IN threonyl-tRNA aminoacylation (ortholog); PARTICIPATES IN aminoacyl-tRNA biosynthetic pathway; ASSOCIATED WITH myositis (ortholog); nonphotosensitive tr ichothiodystrophy 7 (ortholog); trichothiodystrophy (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH (+)-schisandrin B; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine | 2 | 62095978 | 62114802 | Rat | 208 | symbol , ensembl_gene_symbol , PhenoGen , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1551784 | Tars1 | threonyl-tRNA synthetase 1 | Enables threonine-tRNA ligase activity. Involved in threonyl-tRNA aminoacylation. Located in cytoplasm. Is expressed in several structures, including alimentary system; brain; integumental system; liver; and sensory organ. Human ortholog(s) of this gene implicated in nonphotosensitive trichothiodyst rophy 7. Orthologous to human TARS1 (threonyl-tRNA synthetase 1). [provided by Alliance of Genome Resources, Jul 2025] | 15 | 11383749 | 11399744 | Mouse | 211 | symbol , PhenoGen , description , old_gene_symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8740779 | Tars1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits ATP binding (ortholog); identical protein binding (ortholog); threonine-tRNA ligase activity (ortholog); INVOLVED IN threonyl-tRNA aminoacylation (ortholog); ASSOCIATED WITH myositis (ortholog); nonphotosensitive trichothiodystrophy 7 (ortholog); trichothiodystrophy ( ortholog); FOUND IN cytoplasm (ortholog) | NW_004955426 | 19086817 | 19110609 | Chinchilla | 17 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 11834824 | TARS1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); identical protein binding (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); ASSOCIATED WITH myositis (ortholog); nonphotosensitive trichothiodystrophy 7 (ortholog); trichothiodystrophy (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred) | 5 | 76874096 | 76901208 | Bonobo | 35 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 12325205 | TARS1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); identical protein binding (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); ASSOCIATED WITH myositis (ortholog); nonphotosensitive trichothiodystrophy 7 (ortholog); trichothiodystrophy (ortholog); FOUND IN cytoplasm (inferred) | 4 | 74213475 | 74239056 | Dog | 35 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 12491917 | Tars1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); identical protein binding (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); ASSOCIATED WITH myositis (ortholog); nonphotosensitive trichothiodystrophy 7 (ortholog); trichothiodystrophy (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred) | NW_004936518 | 7512498 | 7536854 | Squirrel | 35 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 14124206 | TARS1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); identical protein binding (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); ASSOCIATED WITH myositis (ortholog); nonphotosensitive trichothiodystrophy 7 (ortholog); trichothiodystrophy (ortholog); FOUND IN cytoplasm (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 38 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18703305 | TARS1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); identical protein binding (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); ASSOCIATED WITH myositis (ortholog); nonphotosensitive trichothiodystrophy 7 (ortholog); trichothiodystrophy (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred) | | | | Green Monkey | 35 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18903440 | Tars1 | threonyl-tRNA synthetase 1 | ENCODES a protein that exhibits identical protein binding (ortholog); zinc ion binding (ortholog); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); ASSOCIATED WITH myositis (ortholog); nonphotosensitive trichothiodystrophy 7 (ortholog); tri chothiodystrophy (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred) | | | | Naked Mole-Rat | 31 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 155253203 | tars1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 1308283 | Tars2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (ortholog); protein homodimerization activity (ortholog); threonine-tRNA ligase activity (ortholog); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); transla tion (inferred); PARTICIPATES IN aminoacyl-tRNA biosynthetic pathway; ASSOCIATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); mitochondrial matrix (inferred); mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; clofibric acid | 2 | 185982042 | 185999155 | Rat | 94 | symbol , PhenoGen , old_gene_symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1344526 | TARS2 | threonyl-tRNA synthetase 2, mitochondrial | This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012] | 1 | 150487419 | 150507602 | Human | 123 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1553726 | Tars2 | threonyl-tRNA synthetase 2, mitochondrial (putative) | Predicted to enable aminoacyl-tRNA deacylase activity; protein homodimerization activity; and threonine-tRNA ligase activity. Predicted to be involved in threonyl-tRNA aminoacylation. Located in mitochondrion. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 21. Orthologous to human TARS2 (threonyl-tRNA synthetase 2, mitochondrial). [provided by Alliance of Genome Resources, Jul 2025] | 3 | 95647286 | 95663677 | Mouse | 94 | symbol , PhenoGen , description , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 8981675 | Tars2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (ortholog); protein homodimerization activity (ortholog); threonine-tRNA ligase activity (ortholog); ASSOCIATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog) ; FOUND IN mitochondrion (ortholog) | NW_004955413 | 300142 | 314703 | Chinchilla | 11 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11691840 | TARS2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (inferred); aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); translation (inferred); ASSOC IATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred) | 1 | 125832693 | 125852918 | Bonobo | 30 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12430430 | TARS2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (inferred); aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); translation (inferred); ASSOC IATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); mitochondrial matrix (inferred); mitochondrion (inferred) | 17 | 59681889 | 59695747 | Dog | 32 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12593784 | Tars2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (inferred); aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); translation (inferred); ASSOC IATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); mitochondrial matrix (inferred); mitochondrion (inferred) | NW_004936580 | 731884 | 750121 | Squirrel | 34 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14176762 | TARS2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (inferred); aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); translation (inferred); ASSOC IATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); mitochondrial matrix (inferred); mitochondrion (inferred) | | | | Pig | 32 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18626150 | TARS2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (inferred); aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); translation (inferred); ASSOC IATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred) | | | | Green Monkey | 30 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18908446 | Tars2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (inferred); aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); translation (inferred); ASSOC IATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); mitochondrial matrix (inferred); mitochondrion (inferred) | | | | Naked Mole-Rat | 33 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 286615244 | tars2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625894658 | Tars2 | threonyl-tRNA synthetase 2, mitochondrial | ENCODES a protein that exhibits aminoacyl-tRNA deacylase activity (ortholog); protein homodimerization activity (ortholog); threonine-tRNA ligase activity (ortholog); ASSOCIATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); genetic disease (ortholog) ; FOUND IN mitochondrion (ortholog) | | | | Black Rat | 11 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 1311308 | Tars3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits threonine-tRNA ligase activity (ortholog); INVOLVED IN threonyl-tRNA aminoacylation (ortholog); PARTICIPATES IN aminoacyl-tRNA biosynthetic pathway; FOUND IN cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH bisphenol A; flutamide; gentamycin | 1 | 128623678 | 128675978 | Rat | 81 | symbol , ensembl_gene_symbol , PhenoGen , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1351710 | TARS3 | threonyl-tRNA synthetase 3 | Predicted to enable threonine-tRNA ligase activity. Predicted to be involved in threonyl-tRNA aminoacylation. Predicted to be located in cytoplasm and nucleus. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025] | 15 | 101653596 | 101724473 | Human | 81 | symbol , ensembl_gene_symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1552926 | Tars3 | threonyl-tRNA synthetase 3 | Enables threonine-tRNA ligase activity. Involved in threonyl-tRNA aminoacylation. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Orthologous to human TARS 0;'>TARS3 (threonyl-tRNA synthetase 3). [provided by Alliance of Genome Resources, Jul 2025] | 7 | 65294610 | 65341841 | Mouse | 100 | symbol , PhenoGen , description , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 8818837 | Tars3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits threonine-tRNA ligase activity (ortholog); INVOLVED IN threonyl-tRNA aminoacylation (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog) | NW_004955416 | 28509229 | 28554050 | Chinchilla | 7 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 11790022 | TARS3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); FOUND IN nucleus (ortholog) | 15 | 80394050 | 80463568 | Bonobo | 27 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 12351433 | TARS3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred) | 3 | 39346694 | 39419900 | Dog | 29 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 12446220 | Tars3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); FOUND IN cytoplasm (inferred); mitochondrion (inferred); nucleus (inferred) | NW_004936483 | 2155094 | 2209821 | Squirrel | 28 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 14010517 | TARS3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred) | | | | Pig | 29 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18668727 | TARS3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); FOUND IN nucleus (ortholog) | | | | Green Monkey | 25 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18900023 | Tars3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); FOUND IN nucleus (ortholog) | | | | Naked Mole-Rat | 26 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 155233073 | tars3 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626026233 | Tars3 | threonyl-tRNA synthetase 3 | ENCODES a protein that exhibits threonine-tRNA ligase activity (ortholog); INVOLVED IN threonyl-tRNA aminoacylation (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog) | | | | Black Rat | 7 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155248178 | tars1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 626175722 | tars2.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 626185698 | tars2.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 626185855 | tars2.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 6480385 | TARS2P1 | TARS2 pseudogene 1 | | 4 | 135564894 | 135567162 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 155255607 | tars3.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 596934006 | tars3.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 596934082 | tars3.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 596934691 | tars3.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 596934978 | tars3.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 38659339 | TARS1-DT | TARS1 divergent transcript | | 5 | 33407922 | 33440634 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna, MODEL [RefSeq] |
| 1349467 | ABI3BP | ABI family member 3 binding protein | Predicted to enable actin filament binding activity. Predicted to be involved in several processes, including extracellular matrix organization; positive regulation of cell-substrate adhesion; and regulation of postsynapse organization. Located in collagen-containing extracellular matrix and extrace llular space. [provided by Alliance of Genome Resources, Apr 2025] | 3 | 100749156 | 100993421 | Human | 150 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1616439 | Abi3bp | ABI family member 3 binding protein | Enables collagen binding activity and heparin binding activity. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in interstitial matrix. Is expressed in several structures, including embryo mesenchyme; gut; male reproductive gla nd or organ; nose; and telencephalon. Orthologous to human ABI3BP (ABI family member 3 binding protein). [provided by Alliance of Genome Resources, Jul 2025] | 16 | 56298179 | 56510498 | Mouse | 153 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1312791 | 2310057M21Rik | RIKEN cDNA 2310057M21 gene | Enables identical protein binding activity. Predicted to be located in mitochondrion. Is expressed in sensory organ; skeleton; and tarsus. Orthologous to human C10orf88 (chromosome 10 open reading frame 88). [provided by Alliance of Genome Resources, Jul 2025] | 7 | 130943340 | 130964570 | Mouse | 43 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1619003 | Acot6 | acyl-CoA thioesterase 6 | Predicted to enable fatty acyl-CoA hydrolase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid metabolic process. Predicted to be located in cytosol. Is expressed in respiratory system cartilage; sensory organ; skeleton; and tarsus. Orthologous to human ACOT6 (acyl-CoA thioesterase 6). [provided by Alliance of Genome Resources, Jul 2025] | 12 | 84147538 | 84158128 | Mouse | 58 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1314919 | Ash1l | ASH1 like histone lysine methyltransferase | Enables histone H3K4 methyltransferase activity and histone H3K9 methyltransferase activity. Acts upstream of or within several processes, including decidualization; tarsal gland development; and uterine gland development. Predicted to be located in Golgi appara tus and nucleus. Predicted to be active in nucleoplasm. Is expressed in cerebral cortex; early conceptus; hindlimb muscle; oocyte; and ureter. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 52. Orthologous to human ASH1L (ASH1 like histone lysine methyltransferase). [provided by Alliance of Genome Resources, Jul 2025] | 3 | 88857721 | 88986682 | Mouse | 198 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 10409 | Crygd | crystallin, gamma D | A structural constituent of eye lens. Acts upstream of or within lens fiber cell differentiation. Located in cytoplasm and nucleus. Is expressed in several structures, including sensory organ; skeleton; and tarsus. Used to study cataract 2 multiple types and cat aract 4 multiple types. Human ortholog(s) of this gene implicated in cataract 4 multiple types and cataract 7. Orthologous to human CRYGD (crystallin gamma D). [provided by Alliance of Genome Resources, Jul 2025] | 1 | 65101001 | 65102598 | Mouse | 64 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1313035 | Fsd2 | fibronectin type III and SPRY domain containing 2 | Predicted to be located in nucleus; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Is expressed in hindlimb long bone and tarsus. Orthologous to human FSD2 (fibronectin type III and SPRY domain containing 2). [provided by Alliance of Genome Resourc es, Jul 2025] | 7 | 81184102 | 81216729 | Mouse | 68 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1558623 | Itgb1bp2 | integrin beta 1 binding protein 2 | Enables calcium ion binding activity and zinc ion binding activity. Predicted to be involved in centrosome duplication. Located in Z disc. Is expressed in several structures, including diaphragm; limb mesenchyme; skeletal musculature; tarsus rest of mesenchyme; and tongue. Orthologous to human ITGB1BP2 (integrin subunit beta 1 binding protein 2). [provided by Alliance of Genome Resources, Jul 2025] | X | 100492694 | 100520391 | Mouse | 76 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 736975 | Kcnmb1 | potassium large conductance calcium-activated channel, subfamily M, beta member 1 | Enables calcium-activated potassium channel activity. Predicted to be involved in several processes, including cellular response to bile acid; cellular response to ethanol; and detection of calcium ion. Located in membrane. Part of voltage-gated potassium channel complex. Is expressed in arterial sy stem; sensory organ; skeleton; and tarsus. Human ortholog(s) of this gene implicated in hypertension. Orthologous to human KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1). [provided by Alliance of Genome Resources, Jul 2025] | 11 | 33912955 | 33923641 | Mouse | 101 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 732910 | Kcnmb4 | potassium large conductance calcium-activated channel, subfamily M, beta member 4 | Enables calcium-activated potassium channel activity. Predicted to be involved in detection of calcium ion; neuronal action potential; and potassium ion transport. Part of voltage-gated potassium channel complex. Is expressed in several structures, including central nervous system; hindlimb phalanx; naris; tarsus; and tooth. Orthologous to human KCNMB4 (potassium calcium-activated channel subfamily M regulatory beta subunit 4). [provided by Alliance of Genome Resources, Jul 2025] | 10 | 116251951 | 116309787 | Mouse | 138 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1557554 | Lmbrd2 | LMBR1 domain containing 2 | Predicted to be involved in adrenergic receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in membrane. Is expressed in Meckel's cartilage; cranial ganglion; hindlimb long bone; and tarsus. Orthologous to human LMBRD2 ( LMBR1 domain containing 2). [provided by Alliance of Genome Resources, Jul 2025] | 15 | 9140622 | 9202564 | Mouse | 62 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1615466 | Mn1 | Mn1 proto-oncogene, transcriptional regulator | Acts upstream of or within intramembranous ossification. Predicted to be located in nucleus. Is expressed in several structures, including brain; limb long bone; palatal shelf; tarsus; and ventral grey horn. Human ortholog(s) of this gene implicated in familial meningioma; meningioma; and myeloid leukemia. Orthologous to human MN1 (MN1 proto-oncogene, transcriptional regulator). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 111565145 | 111604890 | Mouse | 166 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1323661 | Nans | N-acetylneuraminic acid synthase (sialic acid synthase) | Enables N-acylneuraminate-9-phosphate synthase activity. Involved in CMP-N-acetylneuraminate biosynthetic process and N-acetylneuraminate metabolic process. Is active in cytosol. Is expressed in several structures, including alimentary system; early conceptus; sensory organ; skeleton; and tars e='font-weight:700;'>tarsus. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Genevieve-type. Orthologous to human NANS (N-acetylneuraminate synthase). [provided by Alliance of Genome Resources, Jul 2025] | 4 | 46489319 | 46503439 | Mouse | 145 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1614872 | Nexmif | neurite extension and migration factor | Predicted to be involved in negative regulation of cell adhesion and negative regulation of neuron migration. Predicted to be located in cytosol; midbody; and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; neural tube mantle layer; sensory organ; skeleton; and tarsus. Used to study autism spectrum disorder and non-syndromic X-linked intellectual disability 98. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 98. Orthologous to human NEXMIF (neurite extension and migration factor). [provided by Alliance of Genome Resources, Jul 2025] | X | 103120367 | 103245403 | Mouse | 132 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1318090 | Pcdhb10 | protocadherin beta 10 | Predicted to be involved in cell adhesion. Predicted to be active in plasma membrane. Is expressed in Meckel's cartilage; appendicular skeleton; cerebral cortex; pelvic girdle skeleton; and tarsus. Orthologous to human PCDHB5 (protocadherin beta 5). [provided by Alliance of Genome Resources, Apr 2025] | 18 | 37544727 | 37547567 | Mouse | 17 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 736587 | Scd1 | stearoyl-Coenzyme A desaturase 1 | Enables metal ion binding activity; palmitoyl-CoA 9-desaturase activity; and stearoyl-CoA 9-desaturase activity. Involved in several processes, including positive regulation of cold-induced thermogenesis; sterol homeostasis; and tarsal gland development. Acts up stream of or within several processes, including brown fat cell differentiation; monounsaturated fatty acid biosynthetic process; and white fat cell differentiation. Located in endoplasmic reticulum membrane. Is expressed in several structures, including adipose tissue; central nervous system; cranium; integumental system; and liver. Orthologous to human SCD (stearoyl-CoA desaturase). [provided by Alliance of Genome Resources, Jul 2025] | 19 | 44382889 | 44396148 | Mouse | 707 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1322223 | Spmip6 | sperm microtubule inner protein 6 | Enables alpha-tubulin binding activity. Involved in flagellated sperm motility. Acts upstream of or within protein-containing complex assembly. Located in several cellular components, including manchette; perinuclear region of cytoplasm; and sperm midpiece. Is active in axonemal A tubule inner sheat h and sperm flagellum. Is expressed in several structures, including sensory organ; skeleton; tarsus; testis; and thymus. Orthologous to human SPMIP6 (sperm microtubule inner protein 6). [provided by Alliance of Genome Resources, Jul 2025] | 4 | 41505005 | 41517333 | Mouse | 61 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1318521 | Stard3nl | STARD3 N-terminal like | Predicted to enable cholesterol binding activity and protein homodimerization activity. Predicted to be involved in cholesterol transport and vesicle tethering to endoplasmic reticulum. Predicted to be located in endosome and organelle membrane contact site. Predicted to be active in endoplasmic ret iculum-endosome membrane contact site and late endosome membrane. Predicted to colocalize with endoplasmic reticulum membrane. Is expressed in respiratory system cartilage; sensory organ; skeleton; and tarsus. Orthologous to human STARD3NL (STARD3 N-terminal like). [provided by Alliance of Genome Resources, Jul 2025] | 13 | 19541846 | 19579983 | Mouse | 91 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1614818 | Wscd2 | WSC domain containing 2 | Enables sulfotransferase activity. Located in Golgi membrane. Is expressed in inner ear; skeleton; tarsus; and telencephalon mantle layer. Orthologous to human WSCD2 (WSC domain containing 2). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 113636976 | 113727786 | Mouse | 56 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1320798 | Wwp2 | WW domain containing E3 ubiquitin protein ligase 2 | Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and ubiquitin protein ligase activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process; protein K63-linked ubiquitination; and regulation of DNA-templated transcription. Acts upstream o f or within positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including heart valve; respiratory system; sensory organ; skeleton; and tarsus. Orthologous to human WWP2 (WW domain containing E3 ubiquitin protein ligase 2). [provided by Alliance of Genome Resources, Apr 2025] | 8 | 108162966 | 108285922 | Mouse | 138 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1622141 | Zfp469 | zinc finger protein 469 | Acts upstream of or within several processes, including extracellular matrix organization; fibroblast proliferation; and substantia propria of cornea development. Is expressed in several structures, including craniocervical region bone; sensory organ; skeleton; tars pan>us; and urinary system. Used to study brittle cornea syndrome 1. Human ortholog(s) of this gene implicated in brittle cornea syndrome 1. Orthologous to human ZNF469 (zinc finger protein 469). [provided by Alliance of Genome Resources, Jul 2025] | 8 | 122770009 | 122999389 | Mouse | 89 | description | gene, protein-coding, VALIDATED [RefSeq] |
