ENSG00000214447
Homo sapiens domain FAM187A immunoglobulin-like membrane chronic ciliary immunoglobulin v-set fold rna-polymerase ii-associated protein -like c-terminal dynein attachment factor n-terminal superfamily integral component autosomal recessive inheritance situs inversus bronchiectasis recurrent respiratory infections rhinitis
Features Gene ID: ENSG00000214447 Biological name :FAM187A Synonyms : A6NFU0 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 17 Strand: 1 Band: q21.31 Gene start: 44899712 Gene end: 44905390 Corresponding Affymetrix probe sets: 228300_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP00000391869388389
See in Manteia .
100528020
See in Manteia .
614677 NM_001258395 NM_001258396 NM_213607 NP_998772 NP_001245324 NP_001245325 A6NFU0 ENSG00000214447 Related genetic diseases (OMIM): 614679 - Ciliary dyskinesia, primary, 17, 614679
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl )Protein motifs (from Interpro ) IPR007110 Immunoglobulin-like domain IPR013106 Immunoglobulin V-set domain IPR013783 Immunoglobulin-like fold IPR025986 RNA-polymerase II-associated protein 3-like, C-terminal domain IPR031733 Dynein attachment factor, N-terminal IPR036179 Immunoglobulin-like domain superfamily
Gene Ontology (GO ) membrane membrane membrane membrane membrane membrane membrane membrane membrane membrane membranemembrane
Pathways (from Reactome )No match Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive inheritance Abnormality of the cardiovascular system Respiratory abnormality Immunological abnormality Head and neck abnormality Age of onset Abnormality of the musculoskeletal system Autosomal recessive Autosomal recessive inheritance Abnormality of the cAbnormality of the cardiovascular system Respiratory abnormalRespiratory abnormality Immunological abnormImmunological abnormality Head and neck abnormHead and neck abnormality Age of onsetAge of onset Abnormality of the mAbnormality of the musculoskeletal system HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
Show HP:0002110 Bronchiectasis
Show HP:0002205 Recurrent respiratory infections
Show HP:0002257 Chronic rhinitis
Show HP:0003577 Onset at birth
Show HP:0005938 Ciliary dysgenesis
Show HP:0011109 Chronic sinusitis "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson]
Show HP:0012265 Ciliary dyskinesia "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
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Interacting proteins (from Reactome )No match
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