Version: 8.0.0Date: Tue Jan 28 2025
Gene Biological Process: establishment of localization Diseases: monogenic disease
TP53
(Homo sapiens)Gene
Name: tumor protein p53
Synonyms: cellular tumor antigen p53, tumor supressor p53, BCC7, transformation-related protein 53, p53 transformation suppressor, antigen NY-CO-13, mutant tumor protein 53, P53, phosphoprotein p53, p53 antigen, FLJ92943, TRP53, mutant p53 protein, tumor protein 53, tumor suppressor TP53, tumor suppressor p53, LFS1, p53 tumor suppressor, BMFS5, truncated p53 protein
Source: HGNC:11998
Biotype: protein coding gene
ATM
(Homo sapiens)Gene
Name: ATM serine/threonine kinase
Synonyms: serine/threonine kinase ATM, TEL1, telomere maintenance 1, homolog, MGC74674, human phosphatidylinositol 3-kinase homolog, ATDC, truncated ATM serine/threonine kinase, DKFZp781A0353, ATA, AT mutated, ATC, ataxia telangiectasia mutated, ATD, TEL1, ataxia telangiectasia mutated (includes complementation groups A, C and D), ATE, A-T mutated, serine-protein kinase ATM, TELO1, AT1
Source: HGNC:795
Biotype: protein coding gene
FLNA
(Homo sapiens)Gene
Name: filamin A
Synonyms: OPD, FLN-A, filamin-1, FLN1, FLN, XMVD, filamin A, alpha, XLVD, actin binding protein 280, FG syndrome 2, alpha filamin, MNS, filamin 1, DKFZp434P031, FMD, CSBS, FGS2, endothelial actin-binding protein, non-muscle filamin, OPD2, OPD1, NHBP, alpha-filamin, FLJ43642, filamin-A, ABPX, ABP-280, CVD1
Source: HGNC:3754
Biotype: protein coding gene
ACT1
(Saccharomyces cerevisiae)Gene
Name: ACTin
Synonyms: ABY1, END7, YFL039C
Source: SGD:S000001855
Biotype: protein coding gene
HBB
(Homo sapiens)Gene
Name: hemoglobin subunit beta
Synonyms: hemoglobin, beta, beta-globin, ECYT6, hemoglobin beta chain, hemoglobin beta subunit, CD113t-C, hemoglobin beta chain complex, beta globin chain
Source: HGNC:4827
Biotype: protein coding gene
Pax6
(Mus musculus)Gene
Name: paired box 6
Synonyms: 1500038E17Rik, AEY11, RIKEN cDNA 1500038E17 gene, Pax-6, Sey, gsf abnormal eyes 11, Dey, Dickie's small eye, Gsfaey11, small eye
Source: MGI:97490
Biotype: protein coding gene
Trp53
(Mus musculus)Gene
Name: transformation related protein 53
Synonyms: p44, p53
Source: MGI:98834
Biotype: protein coding gene
STAT5B
(Homo sapiens)Gene
Name: signal transducer and activator of transcription 5B
Synonyms: transcription factor STAT5B, STAT5, GHISID2
Source: HGNC:11367
Biotype: protein coding gene
Shh
(Mus musculus)Gene
Name: sonic hedgehog
Synonyms: hedgehog gene 1, Dsh, Hhg1, short digits, ShhNC
Source: MGI:98297
Biotype: protein coding gene
Apoe
(Mus musculus)Gene
Name: apolipoprotein E
Synonyms: expressed sequence AI255918, APOEA, AI255918
Source: MGI:88057
Biotype: protein coding gene
daf-2
(Caenorhabditis elegans)Gene
Name: abnormal DAuer Formation 2
Synonyms: Y55D5A.5, CELE_Y55D5A.5
Source: WB:WBGene00000898
Biotype: protein coding gene
BRAF
(Homo sapiens)Gene
Name: B-Raf proto-oncogene, serine/threonine kinase
Synonyms: serine/threonine-protein kinase B-raf, RAFB1, B-Raf serine/threonine-protein, B-RAF1, v-raf murine sarcoma viral oncogene homolog B1, v-raf murine sarcoma viral oncogene homolog B, p94, B-Raf proto-oncogene serine/threonine-protein kinase (p94), proto-oncogene B-Raf, MGC138284, MGC126806, NS7, B-raf, BRAF1, FLJ95109, 94 kDa B-raf protein, BRAF-1, murine sarcoma viral (v-raf) oncogene homolog B1
Source: HGNC:1097
Biotype: protein coding gene
BRCA2
(Homo sapiens)Gene
Name: BRCA2 DNA repair associated
Synonyms: truncated breast and ovarian cancer susceptibility protein 2, DNA repair-associated BRCA2, FAD1, truncated DNA repair-associated BRCA2, BRCC2, GLM3, BRCA2, DNA repair associated, BRCA1/BRCA2-containing complex, subunit 2, breast cancer type 2 susceptibility protein, breast cancer 2, early onset, breast cancer 2 tumor suppressor, breast and ovarian cancer susceptibility gene, early onset, PNCA2, truncated BRCA2 DNA repair associated, fanconi anemia group D1 protein, truncated breast cancer 2, FAD, mutant BRCA2, breast cancer susceptibility protein BRCA2, FANCB, FANCD, breast and ovarian cancer susceptibility protein 2, mutant DNA repair-associated protein 2, FANCD1, BROVCA2, XRCC11, breast cancer 2, FACD
Source: HGNC:1101
Biotype: protein coding gene
APP
(Homo sapiens)Gene
Name: amyloid beta precursor protein
Synonyms: AAA, ABETA, PN-II, beta-amyloid peptide(1-42), beta-amyloid peptide, preA4, beta-amyloid peptide(1-40), cerebral vascular amyloid peptide, testicular tissue protein Li 2, peptidase nexin-II, alpha-sAPP, AD1, alzheimer disease amyloid protein, amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease), protease nexin-II, CTFgamma, amyloid beta A4 protein, PN2, APPI, alzheimer disease amyloid A4 protein homolog, CVAP, ABPP
Source: HGNC:620
Biotype: protein coding gene
APOE
(Homo sapiens)Gene
Name: apolipoprotein E
Synonyms: LDLCQ5, LPG, apolipoprotein E3, apo-E, ApoE4, MGC1571, Alzheimer disease 2 (APOE*E4-associated, late onset), AD2
Source: HGNC:613
Biotype: protein coding gene
PAX6
(Homo sapiens)Gene
Name: paired box 6
Synonyms: paired box 6 PAX6A-ASdel6-AS7 isoform, paired box homeotic gene-6, AN1, AN2, paired box 6 PAX6B-ASdel6 isoform, AN, paired box 6 PAX6A-del6 isoform, D11S812E, paired box protein Pax-6, MGDA, Aniridia 1, Aniridia 2, FVH1, paired box 6 PAX6-12a isoform, aniridia type II protein, oculorhombin, MGC17209, paired box 6 PAX6D isoform, ASGD5, WAGR, paired box 6 PAX6A-ASdel6 isoform, alternative protein PAX6
Source: HGNC:8620
Biotype: protein coding gene
CFTR
(Homo sapiens)Gene
Name: CF transmembrane conductance regulator
Synonyms: CF, ABCC7, cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7), MRP7, CFTR/MRP, cAMP-dependent chloride channel, ATP-binding cassette transporter sub-family C member 7, dJ760C5.1, ATP-binding cassette sub-family C member 7, ABC35, cystic fibrosis transmembrane conductance regulator, TNR-CFTR, cystic fibrosis transmembrane conductance regulating, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Source: HGNC:1884
Biotype: protein coding gene
Hamp
(Rattus norvegicus)Gene
Name: hepcidin antimicrobial peptide
Synonyms: Hepc, hepcidin
Source: RGD:70971
Biotype: protein coding gene
Kit
(Mus musculus)Gene
Name: KIT proto-oncogene receptor tyrosine kinase
Synonyms: Dominant white spotting, gsf spotted coat 1, Fdc, c-KIT, Gsfsco1, dominant spotting, Ssm, gsf spotted coat 5, SCO5, Bs, SCO1, Tr-kit, W, CD117, spotted sterile male, Steel Factor Receptor, Gsfsow3, Gsfsco5, phenotype like Sl or W 3, belly-spot, SOW3
Source: MGI:96677
Biotype: protein coding gene
Flna
(Mus musculus)Gene
Name: filamin, alpha
Synonyms: dilated pupils 2, filamin 1, filamin-1, Dilp2, actin-binding protein 280, Fln1, GENA 379, RIKEN cDNA F730004A14 gene, F730004A14Rik, ABP-280, RGD1560614
Source: MGI:95556
Biotype: protein coding gene
SNCA
(Homo sapiens)Gene
Name: synuclein alpha
Synonyms: non-A beta component of AD amyloid, PARK1, MGC110988, Parkinson disease (autosomal dominant, Lewy body) 4, synuclein, alpha (non A4 component of amyloid precursor), NACP, truncated alpha synuclein, I+/--synuclein, alpha-synuclein, isoform NACP140, synuclein, alpha, PARK4, alpha-synuclein, synuclein alpha-140, non-A4 component of amyloid, non A-beta component of AD amyloid, PD1
Source: HGNC:11138
Biotype: protein coding gene
BCL2
(Homo sapiens)Gene
Name: BCL2 apoptosis regulator
Synonyms: Bcl-2, protein phosphatase 1, regulatory subunit 50, Bcl-2a, B-cell CLL/lymphoma 2, PPP1R50, Bcl-2ß, apoptosis regulator Bcl-2, b-cell leukemia/lymphoma 2, BCL2, apoptosis regulator
Source: HGNC:990
Biotype: protein coding gene
App
(Mus musculus)Gene
Name: amyloid beta precursor protein
Synonyms: Cvap, Abeta, Alzheimer disease amyloid beta protein, cerebrovascular amyloid peptide, protease nexin II, expressed sequence AL024401, AL024401, RIKEN cDNA E030013M08 gene, betaAPP, E030013M08Rik, Adap, appican
Source: MGI:88059
Biotype: protein coding gene
crb
(Drosophila melanogaster)Gene
Name: crumbs
Synonyms: Crbs, l(3)07207, CT19912, 0509/20, Crumbs, CG6383, 1384/04, Crb, CRB, crumb, crumbs, far, fat rhabdomere, l(3)S058104, DmCrb, l(3)S050920, lethal (3) 07207, l(3)j1B5, fat rhabdomeres
Source: FB:FBgn0259685
Biotype: protein coding gene
SOD1
(Homo sapiens)Gene
Name: superoxide dismutase 1
Synonyms: Cu/Zn superoxide dismutase, ALS, SOD, superoxide dismutase [Cu-Zn], indophenoloxidase A, HEL-S-44, superoxide dismutase 1, soluble, epididymis secretory protein Li 44, SOD, soluble, STAHP, hSod1, superoxide dismutase, cystolic, superoxide dismutase, ALS1, IPOA, homodimer
Source: HGNC:11179
Biotype: protein coding gene
para
(Drosophila melanogaster)Gene
Name: paralytic
Synonyms: Shudderer, bss, bangsenseless, DmNa[[v]]1, l(1)ESHS48, Paralytic, DmNav, bang senseless, Out cold, olfD, smell-blind, smellblind, Scn1alpha, bas, parabss, DmNav1, voltage-sensitive sodium channel, DmNa, CG9907, para13-5, DmNa[[v]], lincRNA.S9469, par, Shu, sbl-1, VSSC, Para, Nav1, Ocd, Out-cold, paralyzed, voltage gated sodium ion channel, l(1)14Da, sbl, DmNa[[V]], bang-senseless, bang sensitive
Source: FB:FBgn0285944
Biotype: protein coding gene
Tlr4
(Mus musculus)Gene
Name: toll-like receptor 4
Synonyms: lipopolysaccharide response, RAS-like, family 2, locus 8, Rasl2-8, Lps
Source: MGI:96824
Biotype: protein coding gene
Braf
(Mus musculus)Gene
Name: Braf transforming gene
Synonyms: expressed sequence C87398, expressed sequence AA120551, expressed sequence AA387315, Braf-2, Braf2, AA387315, DNA segment, Chr 6, ERATO Doi 631, expressed, RIKEN cDNA 9930012E13 gene, C87398, AA120551, Braf transforming gene 2, D6Ertd631e, expressed sequence AA473386, AA473386, 9930012E13Rik
Source: MGI:88190
Biotype: protein coding gene
Tgfb1
(Mus musculus)Gene
Name: transforming growth factor, beta 1
Synonyms: Tgfb-1, TGF-beta 1, Tgfb, TGFbeta1, TGF-beta1
Source: MGI:98725
Biotype: protein coding gene
HRAS
(Homo sapiens)Gene
Name: HRas proto-oncogene, GTPase
Synonyms: HAMSV, Ras family small GTP binding protein H-Ras, H-RASIDX, GTPase KRas, RASH1, Harvey rat sarcoma viral oncoprotein, ha-Ras, transformation gene: oncogene HAMSV, GTP- and GDP-binding peptide B, c-Ki-ras, p19 H-RasIDX protein, H-Ras-1, Ha-Ras1 proto-oncoprotein, p21ras, C-H-RAS, N-RAS, c-has/bas p21 protein, HRAS1, RASK2, Harvey rat sarcoma viral oncogene homolog, GTPase HRas, CTLO, Ki-Ras, c-K-ras, K-RAS, c-ras-Ki-2 activated oncogene, C-BAS/HAS, K-Ras 2, KRAS, C-HA-RAS1, v-Ha-ras Harvey rat sarcoma viral oncogene homolog, KRAS2, transforming protein p21
Source: HGNC:5173
Biotype: protein coding gene
BNI1
(Saccharomyces cerevisiae)Gene
Name: Bud Neck Involved
Synonyms: SHE5, YNL271C, PPF3
Source: SGD:S000005215
Biotype: protein coding gene
Stat3
(Mus musculus)Gene
Name: signal transducer and activator of transcription 3
Synonyms: RIKEN cDNA 1110034C02 gene, expressed sequence AW109958, 1110034C02Rik, Aprf, AW109958
Source: MGI:103038
Biotype: protein coding gene
COX5A
(Homo sapiens)Gene
Name: cytochrome c oxidase subunit 5A
Synonyms: cytochrome c oxidase subunit Va, mitochondrial cytochrome c oxidase subunit Va, MC4DN20, cytochrome c oxidase subunit 5A, mitochondrial, cytochrome c oxidase polypeptide Va, COX-VA, VA, cytochrome c oxidase, subunit va, COX, cytochrome c oxidase polypeptide, mitochondrial
Source: HGNC:2267
Biotype: protein coding gene
VCP
(Homo sapiens)Gene
Name: valosin containing protein
Synonyms: epididymis secretory protein Li 70, IBMPFD, valosin-containing protein, HEL-S-70, MGC148092, CMT2Y, TERA, FTDALS6, transitional endoplasmic reticulum ATPase, yeast Cdc48p homolog, p97, 15S Mg(2+)-ATPase p97 subunit, HEL-220, MGC8560, TER ATPase, CDC48, MGC131997, ALS14, IBMPFD1, epididymis luminal protein 220
Source: HGNC:12666
Biotype: protein coding gene
HSPA1A
(Homo sapiens)Gene
Name: heat shock protein family A (Hsp70) member 1A
Synonyms: HSP70-2, HSP70-1, epididymis secretory protein Li 103, HSP70-1A, FLJ54303, FLJ75127, FLJ54408, heat shock 70kD protein 1A, heat shock 70 kDa protein 1/2, HSP70.1/HSP70.2, HSP70I, heat shock-induced protein, HSP72, dnaK-type molecular chaperone HSP70-1, HSP70.2, HSP70.1, HSP70, heat shock 70 kDa protein 1A, Heat shock 70 kDa protein 1B, HEL-S-103, HSPA1, heat shock 70kDa protein 1A, HSP70-1/HSP70-2, Heat shock 70 kDa protein 2, heat shock 70 kDa protein 1A/1B, heat shock 70 kDa protein 1, FLJ54392, FLJ54370, heat shock protein family A member 1A, HSPA1B
Source: HGNC:5232
Biotype: protein coding gene
Cdkn1a
(Mus musculus)Gene
Name: cyclin dependent kinase inhibitor 1A
Synonyms: CDKI, Cip1, p21Cip1, P21, Cdkn1, p21, cyclin dependent kinase inhibitor, CIP1, UV96, p21WAF, Waf1, CAP20, SDI1, mda6
Source: MGI:104556
Biotype: protein coding gene
Col1a1
(Mus musculus)Gene
Name: collagen, type I, alpha 1
Synonyms: Col1a-1, Moloney leukemia virus 13, Cola1, Cola-1, COLIA1, Mov-13
Source: MGI:88467
Biotype: protein coding gene
Cftr
(Mus musculus)Gene
Name: cystic fibrosis transmembrane conductance regulator
Synonyms: Abcc7, expressed sequence AW495489, AW495489, RGD1561193
Source: MGI:88388
Biotype: protein coding gene
Brca2
(Mus musculus)Gene
Name: breast cancer 2, early onset
Synonyms: expressed sequence AW045498, AW045498, Fancd1, expressed sequence AI256696, AI256696, RAB163
Source: MGI:109337
Biotype: protein coding gene
atp7a
(Danio rerio)Gene
Name: ATPase copper transporting alpha
Synonyms: wu:fc43e01, calamity, zgc:158633, cal, zgc:153422
Source: ZFIN:ZDB-GENE-060825-45
Biotype: protein coding gene
Trf
(Mus musculus)Gene
Name: transferrin
Synonyms: hpx, hypotransferrinemia with hemochromatosis, HP, Tfn, AI266983, expressed sequence AI266983
Source: MGI:98821
Biotype: protein coding gene
Ptgs2
(Mus musculus)Gene
Name: prostaglandin-endoperoxide synthase 2
Synonyms: COX-2, Cox-2, PHS II, Cox2, Pghs2, cyclooxygenase-2, prostaglandin G/H synthase, PHS-2, COX2, PGHS-2, cyclooxygenase 2, Tis10
Source: MGI:97798
Biotype: protein coding gene
Cav1
(Mus musculus)Gene
Name: caveolin 1, caveolae protein
Synonyms: Cav-1, caveolin-1, Cav
Source: MGI:102709
Biotype: protein coding gene
Prkn
(Mus musculus)Gene
Name: parkin RBR E3 ubiquitin protein ligase
Synonyms: PRKN, Parkinson disease (autosomal recessive, juvenile) 2, parkin, Park2, Parkin, Park
Source: MGI:1355296
Biotype: protein coding gene
CCC2
(Saccharomyces cerevisiae)Gene
Name: Cross-Complements Ca(2+) phenotype of csg1
Synonyms: YDR270W
Source: SGD:S000002678
Biotype: protein coding gene
COL1A1
(Homo sapiens)Gene
Name: collagen type I alpha 1 chain
Synonyms: pro-alpha-1 collagen type 1, collagen type I alpha 1, EDSARTH1, collagen of skin, tendon and bone, alpha-1 chain, EDSC, alpha1(I) procollagen, type I procollagen alpha 1 chain, OI1, type I proalpha 1, OI3, OI2, OI4, collagen alpha-1(I) chain, CAFYD, collagen alpha-1(I) chain preproprotein, collagen alpha 1 chain type I, collagen, type I, alpha 1, alpha-1 type I collagen
Source: HGNC:2197
Biotype: protein coding gene
Bdnf
(Mus musculus)Gene
Name: brain derived neurotrophic factor
Synonyms: Not Available
Source: MGI:88145
Biotype: protein coding gene
FAA1
(Saccharomyces cerevisiae)Gene
Name: Fatty Acid Activation
Synonyms: YOR317W
Source: SGD:S000005844
Biotype: protein coding gene
Hba-a1
(Mus musculus)Gene
Name: hemoglobin alpha, adult chain 1
Synonyms: Glnc3, alpha 1 globin, Glnc2, GloA, HBAM, Hba1, Hba-a2, Hba2, Glnc1
Source: MGI:96015
Biotype: protein coding gene
ACE
(Homo sapiens)Gene
Name: angiotensin I converting enzyme
Synonyms: CD143, dipeptidyl carboxypeptidase I, CD143 antigen, angiotensin 1 converting enzyme 1, angiotensin I converting enzyme (peptidyl-dipeptidase A) 1, testicular ECA, MGC26566, MVCD3, kininase II, peptidase P, ICH, DCP, ACE1, carboxycathepsin, dipeptidyl carboxypeptidase 1, angiotensin converting enzyme, somatic isoform, angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript, DCP1, angiotensin-converting enzyme
Source: HGNC:2707
Biotype: protein coding gene