ENSMUSG00000009090
 Mus musculus | |
Features See expression report in BioGPS See gene description in Wikigenes See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Ap2b1 / Q9DBG3 / AP-2 complex subunit beta / P63010* / adaptor related protein complex 2 beta 1 subunit* | ENSMUSG00000035152 | 83 | Ap4b1 / Q9WV76 / AP-4 complex subunit beta-1 / Q9Y6B7* / adaptor related protein complex 4 beta 1 subunit* | ENSMUSG00000032952 | 21 | Gm43064 / AP4B1* / Q9Y6B7* / adaptor related protein complex 4 beta 1 subunit* | ENSMUSG00000105053 | 18 |
Protein motifs (from Interpro)
IPR000225 | Armadillo | IPR002553 | Clathrin/coatomer adaptor, adaptin-like, N-terminal | IPR008152 | Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain | IPR009028 | Coatomer/calthrin adaptor appendage, C-terminal subdomain | IPR011989 | Armadillo-like helical | IPR013037 | Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain | IPR013041 | Clathrin adaptor, appendage, Ig-like subdomain superfamily | IPR015151 | Beta-adaptin appendage, C-terminal subdomain | IPR016024 | Armadillo-type fold | IPR016342 | AP-1/2/4 complex subunit beta | IPR026739 | AP complex subunit beta | IPR032682 | Condensin complex subunit 1, C-terminal |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
MP:0000690 | absent spleen | "missing organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:55583] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0000694 | spleen hypoplasia | "small size due to reduced cell number in the spleen" [J:43971] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0003178 | left pulmonary isomerism | "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0004133 | heterotaxia | "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0004624 | abnormal thoracic cage | "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0006063 | abnormal inferior vena cava morphology | "structural malformation in the principal vein draining blood from the lower portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0011055 | abnormal respiratory motile cilium physiology | "any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency" [GO:0031514, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0011252 | situs inversus totalis | "the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia)" [MGI:csmith] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
| MP:0011649 | immotile respiratory cilia | "failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract" [MGI:csmith] |
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Allelic Composition: Dnah5b2b1537Clo/Dnah5b2b1537Clo Genetic Background: C57BL/6J-Dnah5b2b1537Clo
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Interacting proteins (from Reactome)
ENSMUSG00000003033 | Ap1m1 / P35585 / AP-1 complex subunit mu-1 / Q9BXS5* / adaptor related protein complex 1 mu 1 subunit* | / complex | ENSMUSG00000003309 | Ap1m2 / adaptor related protein complex 1 mu 2 subunit / Q9Y6Q5* | / complex | ENSMUSG00000036594 | H2-Aa / P14434 / H-2 class II histocompatibility antigen, A-B alpha chain / P01909* / P01906* / HLA-DQA2* / HLA-DQA1* / major histocompatibility complex, class II, DQ alpha 2* / major hist... | / complex | ENSMUSG00000031731 | Ap1g1 / P22892 / AP-1 complex subunit gamma-1 / O43747* / adaptor related protein complex 1 gamma 1 subunit* | / complex | ENSMUSG00000031367 | Ap1s2 / Q9DB50 / AP-1 complex subunit sigma-2 / P56377* / adaptor related protein complex 1 sigma 2 subunit* | / complex | ENSMUSG00000073421 | H2-Ab1 / P14483 / histocompatibility 2, class II antigen A, beta 1 / P05538* / HLA-DQB1* / HLA-DQB2* / major histocompatibility complex, class II, DQ beta 1* / major histocompatibility comp... | / complex | ENSMUSG00000024610 | Cd74 / P04441 / CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) / P04233* / CD74 molecule* | / complex | ENSMUSG00000067341 | H2-Eb2 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5* | / complex | ENSMUSG00000033335 | Dnm2 / P39054 / Mus musculus dynamin 2 (Dnm2), transcript variant 5, mRNA. / P50570* / dynamin 2* | / complex / reaction | ENSMUSG00000060586 | H2-Eb1 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5* | / complex | ENSMUSG00000004849 | Ap1s1 / P61967 / AP-1 complex subunit sigma-1A / P61966* / adaptor related protein complex 1 sigma 1 subunit* | / complex | ENSMUSG00000054702 | Ap1s3 / Q7TN05 / AP-1 complex subunit sigma-3 / Q96PC3* / adaptor related protein complex 1 sigma 3 subunit* | / complex | ENSMUSG00000019785 | Clvs2 / Q8BG92 / Clavesin-2 / Q5SYC1* | / complex | ENSMUSG00000041216 | Clvs1 / Q9D4C9 / Clavesin-1 / Q8IUQ0* | / complex |
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