Description
transmembrane protein 67 [Source:HGNC Symbol;Acc:28396]
Gene Synonyms
JBTS6, MECKELIN, MGC26979, MKS3, NPHP11, TNEM67
Location
Chromosome 8: 94,767,072-94,831,462 forward strand.
GRCh37:CM000670.1
About this gene
This gene has 22 transcripts (splice variants) and is associated with 11 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000453321.3 | TMEM67-001 | 4651 | 995aa | ENSP00000389998.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6258 | C9JRQ8 E5RG10 Q5HYA8 | NM_153704.5 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409623.3 | TMEM67-002 | 3255 | 914aa | ENSP00000386966.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47893 | E5RG10 Q5HYA8 | NM_001142301.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000452276.1 | TMEM67-003 | 1461 | 397aa | ENSP00000388671.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JRQ8 E5RG10 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000520680.1 | TMEM67-019 | 715 | 239aa | ENSP00000428785.1 | 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, | |
| ENST00000518319.1 | TMEM67-015 | 571 | 38aa | ENSP00000430289.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RG10 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000453906.1 | TMEM67-012 | 561 | 180aa | ENSP00000403035.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JHI2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000521517.1 | TMEM67-018 | 518 | 173aa | ENSP00000430740.1 | 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, | |
| ENST00000498673.1 | TMEM67-008 | 480 | 6aa | ENSP00000430232.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000323130.3 | TMEM67-007 | 3284 | 985aa | ENSP00000314488.3 | Nonsense mediated decay | C9JRQ8 E5RG10 Q5HYA8 | - | - | |
| ENST00000455946.1 | TMEM67-009 | 743 | 147aa | ENSP00000416339.1 | Nonsense mediated decay | F8WCQ6 | - | - | |
| ENST00000521222.1 | TMEM67-016 | 564 | 119aa | ENSP00000429925.1 | Nonsense mediated decay | E5RH38 | - | - | |
| ENST00000521065.1 | TMEM67-017 | 492 | 87aa | ENSP00000427947.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000425545.2 | TMEM67-011 | 568 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000518896.1 | TMEM67-022 | 562 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000463467.2 | TMEM67-013 | 449 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000520634.1 | TMEM67-021 | 237 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000474944.1 | TMEM67-006 | 1986 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000519845.1 | TMEM67-014 | 1964 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000481620.1 | TMEM67-004 | 1579 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000475305.1 | TMEM67-005 | 1319 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000523230.1 | TMEM67-020 | 568 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000496213.1 | TMEM67-010 | 431 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
