Gene: ABCA3 ENSG00000167972

Description

ATP-binding cassette, sub-family A (ABC1), member 3 [Source:HGNC Symbol;Acc:33]

Gene Synonyms

ABC-C, ABC3, EST111653, LBM180, SMDP3

Location

Chromosome 16: 2,325,882-2,390,747 reverse strand.

GRCh37:CM000678.1

About this gene

This gene has 6 transcripts (splice variants), 228 orthologues, 11 paralogues and is associated with 4 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000301732.5	ABCA3-001	6609	1704aa	ENSP00000301732.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10466	Q99758	NM_001089.2	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,
ENST00000382381.3	ABCA3-003	6446	1646aa	ENSP00000371818.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0Y3H2 Q4LE27	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000567910.1	ABCA3-004	1205	209aa	ENSP00000454397.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q6P5P9	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000563623.1	ABCA3-002	3649	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000566200.1	ABCA3-006	1232	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000569062.1	ABCA3-007	900	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: ABCA3 ENSG00000167972

Summary