Description
EGF containing fibulin-like extracellular matrix protein 2 [Source:HGNC Symbol;Acc:3219]
Gene Synonyms
ARCL1B, FBLN4, MBP1, UPH1
Location
Chromosome 11: 65,633,912-65,641,063 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 20 transcripts (splice variants), 207 orthologues, 6 paralogues and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000307998.6 | EFEMP2-001 | 2034 | 443aa | ENSP00000309953.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8116 | E9PI47 E9PKA3 E9PRQ8 O95967 | NM_016938.4 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000528176.1 | EFEMP2-007 | 1504 | 436aa | ENSP00000434151.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PKA3 E9PRQ8 E9PRU1 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000526624.1 | EFEMP2-012 | 907 | 202aa | ENSP00000435419.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PKA3 E9PRQ8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000531645.1 | EFEMP2-018 | 674 | 182aa | ENSP00000436521.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YET5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000527378.1 | EFEMP2-009 | 614 | 183aa | ENSP00000435963.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PRQ8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000526911.1 | EFEMP2-019 | 472 | 74aa | ENSP00000436536.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YEU0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000530806.1 | EFEMP2-020 | 408 | 76aa | ENSP00000436526.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PI47 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000531972.1 | EFEMP2-002 | 1813 | 443aa | ENSP00000435295.1 | Nonsense mediated decay | CCDS8116 | E9PI47 E9PKA3 E9PRQ8 O95967 | - | - |
| ENST00000533347.1 | EFEMP2-013 | 1040 | 77aa | ENSP00000435823.1 | Nonsense mediated decay | E9PSC1 | - | - | |
| ENST00000530850.1 | EFEMP2-010 | 566 | 58aa | ENSP00000437238.1 | Nonsense mediated decay | E9PNB8 | - | - | |
| ENST00000527277.1 | EFEMP2-021 | 543 | 54aa | ENSP00000431305.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000524408.1 | EFEMP2-022 | 525 | 69aa | ENSP00000432191.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000532648.1 | EFEMP2-015 | 408 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000526628.1 | EFEMP2-003 | 2277 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000531005.1 | EFEMP2-006 | 2135 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000527969.1 | EFEMP2-004 | 1562 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000529870.1 | EFEMP2-011 | 811 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000528409.1 | EFEMP2-017 | 658 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000532084.1 | EFEMP2-014 | 571 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000525392.1 | EFEMP2-016 | 519 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
