Module talk:Infobox gene/testcases

MKKS

Module:Infobox gene →

MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDs	OMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA:MKKS - orthologs
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F3 Start 136,715,700 bp End 136,733,309 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus caudate nucleus left ventricle Brodmann area 9 nucleus accumbens Top expressed in dentate gyrus of hippocampal formation granule cell muscle of thigh morula right kidney blastocyst proximal tubule ventricular zone duodenum tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding protein folding chaperone activity unfolded protein binding Cellular component cytosol centrosome kinociliary basal body intracellular anatomical structure microtubule organizing center motile cilium cytoskeleton ciliary basal body cytoplasm nucleus membrane integral component of membrane Biological process pigment granule aggregation in cell center regulation of cilium beat frequency involved in ciliary motility chaperone-mediated protein complex assembly negative regulation of actin filament polymerization negative regulation of appetite by leptin-mediated signaling pathway response to stimulus negative regulation of blood pressure convergent extension involved in gastrulation leptin-mediated signaling pathway vasodilation intracellular transport negative regulation of gene expression regulation of stress fiber assembly detection of mechanical stimulus involved in sensory perception of sound heart looping sensory perception of smell heart development cartilage development face development determination of left/right symmetry negative regulation of GTPase activity protein folding melanosome transport spermatid development artery smooth muscle contraction cerebral cortex development positive regulation of multicellular organism growth social behavior photoreceptor cell maintenance response to leptin hippocampus development gonad development fat cell differentiation striatum development visual perception brain morphogenesis 'de novo' protein folding chaperone-mediated protein folding non-motile cilium assembly cilium assembly developmental process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8195 59030 Ensembl n/a ENSMUSG00000027274 UniProt Q9NPJ1 Q9HB66 Q9JI70 RefSeq (mRNA) NM_018848 NM_170784 NM_001394148 NM_001394149 NM_001141946 NM_001286981 NM_001286983 NM_021527 RefSeq (protein) NP_061336 NP_740754 NP_001135418 NP_001273910 NP_001273912 NP_067502 Location (UCSC) n/a Chr 2: 136.72 – 136.73 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Module:Infobox gene/sandbox →

MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDs	OMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA:MKKS - orthologs
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F3 Start 136,715,700 bp End 136,733,309 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus caudate nucleus left ventricle Brodmann area 9 nucleus accumbens Top expressed in dentate gyrus of hippocampal formation granule cell muscle of thigh morula right kidney blastocyst proximal tubule ventricular zone duodenum tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding protein folding chaperone activity unfolded protein binding Cellular component cytosol centrosome kinociliary basal body intracellular anatomical structure microtubule organizing center motile cilium cytoskeleton ciliary basal body cytoplasm nucleus membrane integral component of membrane Biological process pigment granule aggregation in cell center regulation of cilium beat frequency involved in ciliary motility chaperone-mediated protein complex assembly negative regulation of actin filament polymerization negative regulation of appetite by leptin-mediated signaling pathway response to stimulus negative regulation of blood pressure convergent extension involved in gastrulation leptin-mediated signaling pathway vasodilation intracellular transport negative regulation of gene expression regulation of stress fiber assembly detection of mechanical stimulus involved in sensory perception of sound heart looping sensory perception of smell heart development cartilage development face development determination of left/right symmetry negative regulation of GTPase activity protein folding melanosome transport spermatid development artery smooth muscle contraction cerebral cortex development positive regulation of multicellular organism growth social behavior photoreceptor cell maintenance response to leptin hippocampus development gonad development fat cell differentiation striatum development visual perception brain morphogenesis 'de novo' protein folding chaperone-mediated protein folding non-motile cilium assembly cilium assembly developmental process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8195 59030 Ensembl n/a ENSMUSG00000027274 UniProt Q9NPJ1 Q9HB66 Q9JI70 RefSeq (mRNA) NM_018848 NM_170784 NM_001394148 NM_001394149 NM_001141946 NM_001286981 NM_001286983 NM_021527 RefSeq (protein) NP_061336 NP_740754 NP_001135418 NP_001273910 NP_001273912 NP_067502 Location (UCSC) n/a Chr 2: 136.72 – 136.73 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

RELN

Module:Infobox gene →

RELN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ddu, 2e26, 2DDU, 2E26, 3A7Q
Identifiers
Aliases	RELN, LIS2, PRO1598, RL, reelin, ETL7
External IDs	OMIM: 600514; MGI: 103022; HomoloGene: 3699; GeneCards: RELN; OMA:RELN - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q22.1 Start 103,471,381 bp End 103,989,658 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5 A3|5 9.98 cM Start 22,089,452 bp End 22,549,700 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory bulb cerebellar vermis cerebellar hemisphere paraflocculus of cerebellum right hemisphere of cerebellum spinal ganglia trigeminal ganglion endothelial cell tibial nerve pons Top expressed in ciliary body cerebellar vermis lobe of cerebellum iris olfactory bulb sciatic nerve endothelial cell of lymphatic vessel superior colliculus paraventricular nucleus of hypothalamus piriform cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding peptidase activity hydrolase activity serine-type peptidase activity lipoprotein particle receptor binding very-low-density lipoprotein particle receptor binding Cellular component cytoplasm dendrite plasma membrane extracellular region extracellular space membrane extracellular matrix neuron projection Biological process NMDA glutamate receptor clustering positive regulation of lateral motor column neuron migration dendrite development proteolysis cerebral cortex development lateral motor column neuron migration positive regulation of phosphatidylinositol 3-kinase signaling positive regulation of TOR signaling long-term memory multicellular organism development receptor localization to synapse postsynaptic density protein 95 clustering ventral spinal cord development protein localization to synapse forebrain development long-term potentiation regulation of gene expression layer formation in cerebral cortex cell migration learning associative learning cell adhesion hippocampus development spinal cord patterning cerebral cortex tangential migration positive regulation of peptidyl-tyrosine phosphorylation glial cell differentiation peptidyl-tyrosine phosphorylation positive regulation of excitatory postsynaptic potential positive regulation of CREB transcription factor activity positive regulation of protein kinase activity modulation of chemical synaptic transmission positive regulation of AMPA receptor activity brain development central nervous system development response to pain positive regulation of synapse maturation positive regulation of long-term synaptic potentiation cell morphogenesis involved in differentiation neuron migration positive regulation of neuron projection development positive regulation of small GTPase mediated signal transduction positive regulation of synaptic transmission, glutamatergic regulation of behavior positive regulation of dendritic spine morphogenesis reelin-mediated signaling pathway regulation of NMDA receptor activity positive regulation of protein tyrosine kinase activity axon guidance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5649 19699 Ensembl ENSG00000189056 ENSMUSG00000042453 UniProt P78509 Q60841 RefSeq (mRNA) NM_173054 NM_005045 NM_011261 NM_001310464 RefSeq (protein) NP_005036 NP_774959 NP_001297393 NP_035391 Location (UCSC) Chr 7: 103.47 – 103.99 Mb Chr 5: 22.09 – 22.55 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Module:Infobox gene/sandbox →

RELN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ddu, 2e26, 2DDU, 2E26, 3A7Q
Identifiers
Aliases	RELN, LIS2, PRO1598, RL, reelin, ETL7
External IDs	OMIM: 600514; MGI: 103022; HomoloGene: 3699; GeneCards: RELN; OMA:RELN - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q22.1 Start 103,471,381 bp End 103,989,658 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5 A3|5 9.98 cM Start 22,089,452 bp End 22,549,700 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory bulb cerebellar vermis cerebellar hemisphere paraflocculus of cerebellum right hemisphere of cerebellum spinal ganglia trigeminal ganglion endothelial cell tibial nerve pons Top expressed in ciliary body cerebellar vermis lobe of cerebellum iris olfactory bulb sciatic nerve endothelial cell of lymphatic vessel superior colliculus paraventricular nucleus of hypothalamus piriform cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding peptidase activity hydrolase activity serine-type peptidase activity lipoprotein particle receptor binding very-low-density lipoprotein particle receptor binding Cellular component cytoplasm dendrite plasma membrane extracellular region extracellular space membrane extracellular matrix neuron projection Biological process NMDA glutamate receptor clustering positive regulation of lateral motor column neuron migration dendrite development proteolysis cerebral cortex development lateral motor column neuron migration positive regulation of phosphatidylinositol 3-kinase signaling positive regulation of TOR signaling long-term memory multicellular organism development receptor localization to synapse postsynaptic density protein 95 clustering ventral spinal cord development protein localization to synapse forebrain development long-term potentiation regulation of gene expression layer formation in cerebral cortex cell migration learning associative learning cell adhesion hippocampus development spinal cord patterning cerebral cortex tangential migration positive regulation of peptidyl-tyrosine phosphorylation glial cell differentiation peptidyl-tyrosine phosphorylation positive regulation of excitatory postsynaptic potential positive regulation of CREB transcription factor activity positive regulation of protein kinase activity modulation of chemical synaptic transmission positive regulation of AMPA receptor activity brain development central nervous system development response to pain positive regulation of synapse maturation positive regulation of long-term synaptic potentiation cell morphogenesis involved in differentiation neuron migration positive regulation of neuron projection development positive regulation of small GTPase mediated signal transduction positive regulation of synaptic transmission, glutamatergic regulation of behavior positive regulation of dendritic spine morphogenesis reelin-mediated signaling pathway regulation of NMDA receptor activity positive regulation of protein tyrosine kinase activity axon guidance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5649 19699 Ensembl ENSG00000189056 ENSMUSG00000042453 UniProt P78509 Q60841 RefSeq (mRNA) NM_173054 NM_005045 NM_011261 NM_001310464 RefSeq (protein) NP_005036 NP_774959 NP_001297393 NP_035391 Location (UCSC) Chr 7: 103.47 – 103.99 Mb Chr 5: 22.09 – 22.55 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

SPI1

Module:Infobox gene →

SPI1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1PUE
Identifiers
Aliases	SPI1, OF, PU.1, SFPI1, SPI-1, SPI-A, Spi-1 proto-oncogene, AGM10
External IDs	OMIM: 165170; MGI: 98282; HomoloGene: 2346; GeneCards: SPI1; OMA:SPI1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p11.2 Start 47,354,860 bp End 47,378,547 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 E1|2 50.44 cM Start 90,912,735 bp End 90,946,101 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte right lung upper lobe of left lung spleen blood bone marrow cells appendix right coronary artery lymph node Top expressed in granulocyte tibiofemoral joint mesenteric lymph nodes stroma of bone marrow spleen blood medulla of thymus embryo lip ankle joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding RNA binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity NFAT protein binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription factor binding Cellular component nucleus nucleoplasm transcription regulator complex Biological process myeloid leukocyte differentiation regulation of transcription, DNA-templated cellular response to ethanol somatic stem cell population maintenance lymphocyte differentiation regulation of erythrocyte differentiation myeloid dendritic cell differentiation negative regulation of transcription by RNA polymerase II negative regulation of MHC class II biosynthetic process lymphoid progenitor cell differentiation transcription, DNA-templated macrophage differentiation anatomical structure regression negative regulation of histone H4 acetylation negative regulation of gene expression, epigenetic vasculature development granulocyte differentiation apoptotic process involved in blood vessel morphogenesis histone H3 acetylation erythrocyte differentiation hypermethylation of CpG island positive regulation of pri-miRNA transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II pri-miRNA transcription by RNA polymerase II cell differentiation interleukin-6-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6688 20375 Ensembl ENSG00000066336 ENSMUSG00000002111 UniProt P17947 P17433 RefSeq (mRNA) NM_001080547 NM_003120 NM_011355 NM_001378898 NM_001378899 RefSeq (protein) NP_001074016 NP_003111 NP_035485 NP_001365827 NP_001365828 Location (UCSC) Chr 11: 47.35 – 47.38 Mb Chr 2: 90.91 – 90.95 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Module:Infobox gene/sandbox →

SPI1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1PUE
Identifiers
Aliases	SPI1, OF, PU.1, SFPI1, SPI-1, SPI-A, Spi-1 proto-oncogene, AGM10
External IDs	OMIM: 165170; MGI: 98282; HomoloGene: 2346; GeneCards: SPI1; OMA:SPI1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p11.2 Start 47,354,860 bp End 47,378,547 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 E1|2 50.44 cM Start 90,912,735 bp End 90,946,101 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte right lung upper lobe of left lung spleen blood bone marrow cells appendix right coronary artery lymph node Top expressed in granulocyte tibiofemoral joint mesenteric lymph nodes stroma of bone marrow spleen blood medulla of thymus embryo lip ankle joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding RNA binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity NFAT protein binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription factor binding Cellular component nucleus nucleoplasm transcription regulator complex Biological process myeloid leukocyte differentiation regulation of transcription, DNA-templated cellular response to ethanol somatic stem cell population maintenance lymphocyte differentiation regulation of erythrocyte differentiation myeloid dendritic cell differentiation negative regulation of transcription by RNA polymerase II negative regulation of MHC class II biosynthetic process lymphoid progenitor cell differentiation transcription, DNA-templated macrophage differentiation anatomical structure regression negative regulation of histone H4 acetylation negative regulation of gene expression, epigenetic vasculature development granulocyte differentiation apoptotic process involved in blood vessel morphogenesis histone H3 acetylation erythrocyte differentiation hypermethylation of CpG island positive regulation of pri-miRNA transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II pri-miRNA transcription by RNA polymerase II cell differentiation interleukin-6-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6688 20375 Ensembl ENSG00000066336 ENSMUSG00000002111 UniProt P17947 P17433 RefSeq (mRNA) NM_001080547 NM_003120 NM_011355 NM_001378898 NM_001378899 RefSeq (protein) NP_001074016 NP_003111 NP_035485 NP_001365827 NP_001365828 Location (UCSC) Chr 11: 47.35 – 47.38 Mb Chr 2: 90.91 – 90.95 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

AIF1

Module:Infobox gene →

AIF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D58, 2G2B
Identifiers
Aliases	AIF1, AIF-1, IBA1, IRT-1, IRT1, allograft inflammatory factor 1, Iba-1
External IDs	OMIM: 601833; MGI: 1343098; HomoloGene: 1226; GeneCards: AIF1; OMA:AIF1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p21.33 Start 31,615,217 bp End 31,617,021 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 B1|17 18.59 cM Start 35,389,967 bp End 35,395,044 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte bone marrow cells testicle right lung gallbladder C1 segment rectum spleen right coronary artery Top expressed in seminiferous tubule mesenteric lymph nodes spermatid spleen stroma of bone marrow thymus spermatocyte subcutaneous adipose tissue optic nerve aortic valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding actin filament binding actin binding molecular function Cellular component cytoplasm cytosol perikaryon cell projection membrane ruffle plasma membrane ruffle membrane actin filament perinuclear region of cytoplasm phagocytic cup cytoskeleton nucleus lamellipodium Biological process cellular response to extracellular stimulus positive regulation of smooth muscle cell chemotaxis response to cytokine positive regulation of protein phosphorylation negative regulation of smooth muscle cell proliferation positive regulation of cell migration positive regulation of muscle hyperplasia positive regulation of nitric oxide biosynthetic process positive regulation of monocyte chemotaxis negative regulation of apoptotic process response to glucocorticoid response to electrical stimulus negative regulation of gene expression cellular response to hydroperoxide actin filament bundle assembly microglial cell activation positive regulation of G1/S transition of mitotic cell cycle actin filament polymerization negative regulation of smooth muscle cell chemotaxis cellular response to hormone stimulus phagocytosis, engulfment response to axon injury positive regulation of T cell proliferation cellular response to interferon-gamma cellular response to morphine Rac protein signal transduction inflammatory response ruffle assembly positive regulation of T cell migration positive regulation of smooth muscle cell proliferation cerebellum development positive regulation of cell population proliferation regulation of gene expression parallel actin filament bundle assembly cellular response to oxidative stress positive regulation of chemotaxis actin crosslink formation positive regulation of mononuclear cell migration positive regulation of fibroblast growth factor production Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 199 11629 Ensembl ENSG00000206428 ENSG00000235985 ENSG00000235588 ENSG00000234836 ENSG00000237727 ENSG00000204472 ENSMUSG00000024397 UniProt P55008 Q4V347 O70200 RefSeq (mRNA) NM_001623 NM_004847 NM_032955 NM_001318970 NM_019467 NM_001361501 NM_001361502 RefSeq (protein) NP_001305899 NP_001614 NP_116573 NP_001614.3 NP_062340 NP_001348430 NP_001348431 Location (UCSC) Chr 6: 31.62 – 31.62 Mb Chr 17: 35.39 – 35.4 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Module:Infobox gene/sandbox →