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 | 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 | - | - | - |
