Loading…

Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

Configure this page

Share this page

Bookmark this page

.

Gene: COL3A1 ENSG00000168542

.

Description

collagen, type III, alpha 1 [Source:HGNC Symbol;Acc:2201]

Gene Synonyms

EDS4A

Location

Chromosome 2: 189,839,046-189,877,472 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 6 transcripts (splice variants), 17 paralogues and is associated with 71 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000304636.3	COL3A1-001	5543	1466aa	ENSP00000304408.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2297	D2JYH5 P02461 Q6LBY7	NM_000090.3	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,
ENST00000317840.5	COL3A1-201	4581	1163aa	ENSP00000315243.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7ENY8 Q6LBY7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000450867.1	COL3A1-004	268	90aa	ENSP00000415346.1	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,
ENST00000487010.1	COL3A1-002	2054	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000470167.1	COL3A1-003	628	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000467886.1	COL3A1-005	226	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

.

Summary

.

.