Loading…

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

Configure this page

Share this page

Bookmark this page

.

Gene: EFHD1 ENSG00000115468

.

Description

EF-hand domain family, member D1 [Source:HGNC Symbol;Acc:29556]

Gene Synonyms

DKFZp781H0842, EFHD1, FLJ13612, MST133, MSTP133, SWS2

Location

Chromosome 2: 233,470,767-233,547,491 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 6 transcripts (splice variants), 201 orthologues and 1 paralogue.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000264059.3	EFHD1-001	2259	239aa	ENSP00000264059.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2497	B4DEE0 C9JTV4 Q53S38 Q53SA2 Q8WYH2 Q9BUP0	NM_025202.3	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,
ENST00000409708.1	EFHD1-002	1817	127aa	ENSP00000386243.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JTV4 Q8WYH2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000410095.1	EFHD1-004	1538	127aa	ENSP00000386685.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JTV4 Q8WYH2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000409613.1	EFHD1-003	1156	143aa	ENSP00000386556.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS58755	C9JTV4 Q53SA2 Q8WYH2 Q9BUP0	NM_001243252.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000427698.1	EFHD1-007	541	81aa	ENSP00000401073.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JTV4	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000442845.1	EFHD1-006	843	99aa	ENSP00000395119.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

.

Summary

.

.