| 12419401 | ASPH | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); ASSOCIATED WITH Bile Duc t Neoplasms (ortholog); cholangiocarcinoma (ortholog); congenital contractural arachnodactyly (ortholog); FOUND IN junctional sarcoplasmic reticulum membrane; membrane; myofibril | 29 | 11812275 | 12022755 | Dog | 54 | symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 12386976 | ASPHD1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog) | 6 | 17941306 | 17945594 | Dog | 3 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12118236 | ASPHD2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | 26 | 20110361 | 20123906 | Dog | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12362545 | DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog); Golgi apparatus (ortholog); INTERACTS WITH bisphenol A | 5 | 28566604 | 28727416 | Dog | 70 | description | gene, protein-coding, MODEL [RefSeq] |
| 12099336 | DYNC2I1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); embryonic skeletal system morphogenesis (inferred); ASSOCIATED WITH asph >yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (inferred); ciliary base (inferred); cilium (inferred) | 16 | 20810735 | 20859441 | Dog | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 12258346 | TTC21B | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | 36 | 11009362 | 11086586 | Dog | 65 | description | gene, protein-coding, MODEL [RefSeq] |
| 12341347 | WDR19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); motile cilium (inferred) | 3 | 73115560 | 73213823 | Dog | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 12123440 | DYNC2I2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxi ating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 9 | 54930039 | 54953752 | Dog | 39 | description | gene, protein-coding, MODEL [RefSeq] |
| 12066844 | DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asph yxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN apical part of cell; cilium; cytoplasmic microtubule | 10 | 46231433 | 46270102 | Dog | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 12404862 | DYNLT2B | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); regulation of cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholo g); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary base (inferred) | 33 | 29414484 | 29430439 | Dog | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12154677 | EVC2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (inf erred); cilium (inferred); nucleus (inferred) | 3 | 70809649 | 70935391 | Dog | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 12053847 | IFT140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 6 | 39262887 | 39308912 | Dog | 70 | description | gene, protein-coding, MODEL [RefSeq] |
| 12226249 | IFT172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); intraciliary transport particle B (inferred) | 17 | 21389462 | 21426970 | Dog | 79 | description | gene, protein-coding, MODEL [RefSeq] |
| 12135114 | IFT80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (inferred); axoneme (inferred); centrosome (inferred) | 34 | 26332456 | 26455428 | Dog | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 12371664 | LBR | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN cholesterol biosynthetic process (inferred); cholesterol biosynthetic process via desmosterol (inferred); cholesterol metabolic process (inferred); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear pore (ortholog) | 7 | 39289517 | 39309026 | Dog | 78 | description | gene, protein-coding, MODEL [RefSeq] |
| 12266080 | RAB34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN cellular response to glucose stimulus (ortholog); cytosolic ciliogenesis (ortholog); endocytosis (ortholog); ASSOCIATED WITH asphyxiating thoracic dy strophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN early endosome (ortholog); late endosome (ortholog); ruffle (ortholog) | 9 | 42909843 | 42913935 | Dog | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 12252986 | B9D1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (ortholog); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog) | 5 | 40854110 | 40866828 | Dog | 43 | description | gene, protein-coding, MODEL [RefSeq] |
| 12378668 | BAG3 | BAG cochaperone 3 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to mechanical stimulus (ortholog); chaperone-mediated autophagy (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); ... (more) n style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN stress fiber (ortholog) | 28 | 29792612 | 29815466 | Dog | 103 | description | gene, protein-coding, MODEL [RefSeq] |
| 12309330 | C2CD3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN cell projection organization (inferred); centriole elongation (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriol ar satellite (inferred); centriole (inferred); centrosome (inferred) | 21 | 24127390 | 24272473 | Dog | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12152777 | CEP120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred) | 11 | 13184590 | 13306975 | Dog | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 12377973 | CILK1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); magnesium ion binding (inferred); INVOLVED IN protein phosphorylation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectoderma l dysplasia (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH bisphenol A | 12 | 20453322 | 20511463 | Dog | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 12388978 | DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); spermatid de velopment (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); manchette (ortholog); neuronal cell body (ortholog) | 8 | 69997021 | 70064886 | Dog | 116 | description | gene, protein-coding, MODEL [RefSeq] |
| 12056482 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP binding (inferred); ATP hydrolysis activity (inferred); INVOLVED IN embryonic organ development (ortholog); response to hypoxia (ortholog); transcription elongation by RNA polymerase I (ortholog); PARTICIPATES IN altered nuc leotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN transcription factor TFIIH core complex (ortholog) | 19 | 23310911 | 23344083 | Dog | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 12181313 | FAM98C | family with sequence similarity 98 member C | ENCODES a protein that exhibits ATP binding (inferred); calcium channel activity (inferred); calcium-induced calcium release activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); calcium ion transport (inferred); calcium-mediated signaling (inferred); ASSOCIATED WITH asph style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); FOUND IN cell cortex (inferred); cytoplasm (inferred); I band (inferred) | 1 | 114598841 | 114602316 | Dog | 46 | description | gene, protein-coding, MODEL [RefSeq] |
| 12306969 | FLVCR1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thor acic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog) | 7 | 11001155 | 11038910 | Dog | 59 | description | gene, protein-coding, MODEL [RefSeq] |
| 12122185 | FUZ | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred) | 1 | 106742381 | 106752543 | Dog | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 12280453 | GRK2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN cellular response to catecholamine stimulus (ortholog); cellular response to chemokine (ortholog); cellular r esponse to epidermal growth factor stimulus (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | 18 | 50148566 | 50167422 | Dog | 188 | description | gene, protein-coding, MODEL [RefSeq] |
| 12355387 | HTRA2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); forebrain development (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog) ; Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (inferred); chromatin (inferred); cytoplasmic side of plasma membrane (inferred) | 17 | 48610408 | 48613399 | Dog | 126 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12342139 | IFT43 | intraflagellar transport 43 | INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN cilium (ortholog); intraciliar y transport particle A (ortholog) | 8 | 48949740 | 49031614 | Dog | 38 | description | gene, protein-coding, MODEL [RefSeq] |
| 12128742 | IFT52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | 24 | 31295987 | 31334825 | Dog | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 12418796 | IFT74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (inferred); chromatin binding (inferred); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dyst rophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); ciliary basal body (inferred) | 11 | 45159124 | 45242019 | Dog | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 12412263 | IFT81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN cell differentiation (inferred); cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy (ortholog); Desbu quois dysplasia (ortholog); FOUND IN ciliary basal body (ortholog) | 26 | 8017315 | 8123972 | Dog | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 12287172 | IFT88 | intraflagellar transport 88 | INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); autosomal recessive poly cystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | 25 | 17414965 | 17551405 | Dog | 132 | description | gene, protein-coding, MODEL [RefSeq] |
| 12203693 | INTU | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); centriole (inferred); ciliary basal body (inferred) | 19 | 13193252 | 13276593 | Dog | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 12374086 | JUN | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits chromatin binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); nucleus (ortholog); protein-containing complex (ortholog); INTERACTS WITH anthra[1,9-cd]pyrazol-6(2H)-one; masitinib; sodium chloride | 5 | 50966698 | 50968939 | Dog | 245 | description | gene, protein-coding, MODEL [RefSeq] |
| 12146317 | KIAA0586 | KIAA0586 | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog); c iliary basal body (ortholog) | 8 | 33771357 | 33880910 | Dog | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12055166 | KIAA0753 | KIAA0753 | INVOLVED IN centriole replication (inferred); cilium assembly (inferred); cytosolic ciliogenesis (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (i nferred); centrosome (inferred) | 5 | 30708361 | 30749773 | Dog | 23 | description | gene, protein-coding, MODEL [RefSeq] |
| 12426215 | KIF24 | kinesin family member 24 | ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); identical protein binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); microtubule depolymerization (inferred); ASSOCIATED WITH asph ;'>asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (inferred); centrosome (inferred); cytoskeleton (inferred) | 11 | 50974376 | 51049862 | Dog | 34 | description | gene, protein-coding, MODEL [RefSeq] |
| 12176173 | MAP2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); protein kinase binding (ortholog); SH2 domain binding (ortholog); INVOLVED IN axonogenesis (ortholog); dendrite development (ortholog); establishment of cell polarity (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arteriovenous m alformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | 37 | 17316899 | 17611360 | Dog | 111 | description | gene, protein-coding, MODEL [RefSeq] |
| 12411824 | NEK1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN DNA damage response (ortholog); kidney development (ortholog); multicellular organism growth (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); cytoplasm (inferred) | 25 | 20297190 | 20528537 | Dog | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 12189900 | PDIA3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits MHC class I protein binding (ortholog); peptidase activity (ortholog); protein-disulfide reductase (glutathione) activity (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transform ing growth factor beta stimulus (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog); INTERACTS WITH masitinib; phenobarbital | 30 | 10487926 | 10513437 | Dog | 88 | description | gene, protein-coding, MODEL [RefSeq] |
| 12233232 | POLG | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits DNA-directed DNA polymerase activity (ortholog); exonuclease activity (ortholog); INVOLVED IN base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH Alpers-Huttenloche r syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); terminal bouton (ortholog) | 3 | 52357062 | 52373768 | Dog | 208 | description | gene, protein-coding, MODEL [RefSeq] |
| 12418449 | PSEN2 | presenilin 2 | ENCODES a protein that exhibits endopeptidase activity (ortholog); INVOLVED IN amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); calcium ion transport (ortholog); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheim er's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog) | 7 | 38147157 | 38163023 | Dog | 136 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12317220 | SCN1B | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); corticospinal neuron axon guidance (ortholog); locomotion (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN plasma membrane (ortholog); voltage-gated sodium channel complex (ortholog) | 1 | 117504428 | 117510666 | Dog | 126 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12432614 | SLTM | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nuc leus (inferred) | 30 | 23858626 | 23902042 | Dog | 11 | description | gene, protein-coding, MODEL [RefSeq] |
| 12369367 | SMARCAD1 | SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 | ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent chromatin remodeler activity (inferred); ATP-dependent histone chaperone activity (inferred); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); chromosome separation (inferred); ASSOCIATED WITH aderma toglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN chromosome (inferred); heterochromatin (inferred); nuclear replication fork (inferred) | 32 | 17089514 | 17167917 | Dog | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 12230005 | SOX4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA-binding transcription factor activity (ortholog); INVOLVED IN endocrine pancreas development (ortholog); hematopoietic stem cell homeostasis (ortholog); response to hypoxia (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asph 00;'>Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); nucleus (inferred) | 35 | 20098783 | 20101357 | Dog | 95 | description | gene, protein-coding, MODEL [RefSeq] |
| 12087910 | TRAF3IP1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 25 | 48782448 | 48836993 | Dog | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 12297593 | WDR35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 17 | 14976662 | 15034918 | Dog | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 12298741 | XRCC1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred) | 1 | 111548719 | 111571816 | Dog | 201 | description | gene, protein-coding, VALIDATED [RefSeq] |