ENSG00000214447
Homo sapiens | |
Features
| Gene ID: | ENSG00000214447 | | | | | Biological name : | FAM187A | | | | | Synonyms : | A6NFU0 / FAM187A / family with sequence similarity 187 member A | | | | | 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 - ENSP00000391869
Ensembl peptide - ENSP00000329499
NCBI entrez gene - 388389
See in Manteia.
NCBI entrez gene - 100528020
See in Manteia.
OMIM - 614677
RefSeq - NM_001258395
RefSeq - NM_001258396
RefSeq - NM_213607
RefSeq Peptide - NP_998772
RefSeq Peptide - NP_001245324
RefSeq Peptide - NP_001245325
swissprot - A6NFU0
Ensembl - 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)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| 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] |
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| | HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| | HP:0002110 | Bronchiectasis | |
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| | HP:0002205 | Recurrent respiratory infections | |
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| | HP:0002257 | Chronic rhinitis | |
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| | HP:0003577 | Onset at birth | |
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| | HP:0005938 | Ciliary dysgenesis | |
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| | HP:0011109 | Chronic sinusitis | "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| | 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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