Gene: TMEM67 ENSG00000164953

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 14 phenotypes.

Transcripts

Show transcript tableHide transcript table

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	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,
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		-	-	-

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Gene: TMEM67 ENSG00000164953

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Gene: TMEM67 ENSG00000164953

Summary