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	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000304636.3	COL3A1-001	5543	1466aa	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000317840.5	COL3A1-201	4581	1163aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7ENY8 Q6LBY7	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000450867.1	COL3A1-004	268	90aa	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

Name

COL3A1 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: P02461

CCDS

This gene is a member of the Human CCDS set: CCDS2297.1

LRG

LRG_3 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000168542.8

Other assemblies

This gene maps to 188,974,320-189,012,746 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000132648 (version 5)

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Gene: COL3A1 ENSG00000168542

Summary