ENSG00000147274
Homo sapiens | |
Features
| Gene ID: | ENSG00000147274 | | | | | Biological name : | RBMX | | | | | Synonyms : | P38159 / RBMX / RNA binding motif protein, X-linked | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | -1 | | Band: | q26.3 | | Gene start: | 136848004 | | Gene end: | 136880764 | | | | | Corresponding Affymetrix probe sets: | 1556336_at (Human Genome U133 Plus 2.0 Array) 213762_x_at (Human Genome U133 Plus 2.0 Array) 225310_at (Human Genome U133 Plus 2.0 Array) 229999_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000411989
Ensembl peptide - ENSP00000457051
Ensembl peptide - ENSP00000457691
Ensembl peptide - ENSP00000457866
Ensembl peptide - ENSP00000359645
Ensembl peptide - ENSP00000405117
Ensembl peptide - ENSP00000454777
Ensembl peptide - ENSP00000456048
NCBI entrez gene - 27316
See in Manteia.
OMIM - 300199
RefSeq - NM_001164803
RefSeq - NM_002139
RefSeq Peptide - NP_001158275
RefSeq Peptide - NP_002130
swissprot - P38159
swissprot - H0Y6E7
swissprot - H3BNC1
swissprot - H3BR27
swissprot - H3BT71
swissprot - H3BUY5
Ensembl - ENSG00000147274
| | | | | Related genetic diseases (OMIM): | 300238 - ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 |
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)
| Q96E39 / RBMXL1 / RNA binding motif protein, X-linked like 1 | ENSG00000213516 | 95 | | O75526 / RBMXL2 / RNA binding motif protein, X-linked like 2 | ENSG00000170748 | 74 | | Q15415 / RBMY1F / RNA binding motif protein, Y-linked, family 1, member F | ENSG00000169800 | 61 | | Q15415 / RBMY1J / RNA binding motif protein, Y-linked, family 1, member J | ENSG00000226941 | 61 | | A6NDE4 / RBMY1B / RNA binding motif protein, Y-linked, family 1, member B | ENSG00000242875 | 61 | | P0DJD3 / RBMY1A1 / RNA binding motif protein, Y-linked, family 1, member A1 | ENSG00000234414 | 61 | | P0C7P1 / RBMY1D / RNA binding motif protein, Y-linked, family 1, member D | ENSG00000244395 | 61 | | A6NEQ0 / RBMY1E / RNA binding motif protein, Y-linked, family 1, member E | ENSG00000242389 | 61 | | Q8N7X1 / RBMXL3 / RNA binding motif protein, X-linked like 3 | ENSG00000175718 | 54 | | CIRBP / Q14011 / cold inducible RNA binding protein | ENSG00000099622 | 28 | | TRA2B / P62995 / transformer 2 beta homolog | ENSG00000136527 | 22 | | TRA2A / Q13595 / transformer 2 alpha homolog | ENSG00000164548 | 21 | | RBM3 / P98179 / RNA binding motif protein 3 | ENSG00000102317 | 21 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000053 | Macroorchidism | "The presence of abnormally large testes." [HPO:curators] |
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| | HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| | HP:0000280 | Coarse facial features | |
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| | HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
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| | HP:0000400 | Large ears | |
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| | HP:0000414 | Bulbous nose | |
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| | HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| | HP:0000629 | Periorbital fullness | |
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| | HP:0001328 | Learning disability | |
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| | HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| | HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| | HP:0002342 | Mental retardation, moderate | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
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