Description
melanophilin [Source:HGNC Symbol;Acc:29643]
Gene Synonyms
SLAC2-A, SLAC2A, Slac-2a, exophilin-3, l(1)-3Rk, l1Rk3, ln
Location
Chromosome 2: 238,394,071-238,463,961 forward strand.
GRCh37:CM000664.1
About this gene
This gene has 24 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000264605.3 | MLPH-001 | 3823 | 600aa | ENSP00000264605.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2518 | C9JI01 C9JKV5 Q53QF3 Q53QV8 Q9BV36 | NM_024101.6 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000338530.4 | MLPH-004 | 2332 | 572aa | ENSP00000341845.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42836 | C9JI01 C9JKV5 Q53QF3 Q9BV36 | NM_001042467.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000445024.2 | MLPH-201 | 2274 | 551aa | ENSP00000414849.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DKW7 C9JI01 C9JKV5 Q53QF3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000410032.1 | MLPH-002 | 2171 | 457aa | ENSP00000386338.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS63172 | C9JI01 C9JKV5 G5E9G5 | NM_001281474.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409373.1 | MLPH-005 | 2031 | 480aa | ENSP00000386780.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS63173 | C9JI01 C9JKV5 Q9BV36 | NM_001281473.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000437893.1 | MLPH-008 | 1447 | 360aa | ENSP00000412438.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C3K9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000415753.1 | MLPH-019 | 841 | 236aa | ENSP00000409897.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000422695.1 | MLPH-009 | 744 | 131aa | ENSP00000409170.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JI01 C9JKV5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000434770.1 | MLPH-022 | 726 | 145aa | ENSP00000399081.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C190 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000436965.1 | MLPH-018 | 610 | 203aa | ENSP00000405337.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000429898.1 | MLPH-010 | 565 | 70aa | ENSP00000403909.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JI01 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000432475.1 | MLPH-020 | 863 | 199aa | ENSP00000393010.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000468178.1 | MLPH-003 | 1979 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000485956.1 | MLPH-016 | 707 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000477222.1 | MLPH-011 | 596 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000477501.1 | MLPH-013 | 581 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000495439.1 | MLPH-006 | 2341 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000464123.1 | MLPH-007 | 2183 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000478712.1 | MLPH-014 | 1371 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000469619.1 | MLPH-012 | 1153 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000494110.1 | MLPH-015 | 883 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000477457.1 | MLPH-021 | 716 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000489967.1 | MLPH-023 | 657 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000482528.1 | MLPH-017 | 439 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
