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EFCAB2 EF-hand calcium binding domain 2 [ Homo sapiens (human) ]

Gene ID: 84288, updated on 12-Oct-2019

Summary

Official Symbol
EFCAB2provided by HGNC
Official Full Name
EF-hand calcium binding domain 2provided by HGNC
Primary source
HGNC:HGNC:28166
See related
Ensembl:ENSG00000203666
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DRC8; CFAP200
Summary
The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]
Expression
Ubiquitous expression in thyroid (RPKM 1.2), testis (RPKM 1.2) and 25 other tissues See more
Orthologs

Genomic context

See EFCAB2 in Genome Data Viewer
Location:
1q44
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (244969739..245125228)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (245133171..245288530)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928068 Neighboring gene RN7SK pseudogene 55 Neighboring gene RNA, U6 small nuclear 947, pseudogene Neighboring gene uncharacterized LOC107985725 Neighboring gene RNA, U6 small nuclear 1089, pseudogene Neighboring gene RNA, U6 small nuclear 999, pseudogene Neighboring gene RNA, U1 small nuclear 132, pseudogene Neighboring gene kinesin family member 26B Neighboring gene KIF26B antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33608, MGC12458

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynein regulatory complex protein 8
Names
EF-hand calcium-binding domain-containing protein 2
dynein regulatory complex subunit 8

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034030.1 RefSeqGene

    Range
    5461..160360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143943.1NP_001137415.1  dynein regulatory complex protein 8 isoform b

    See identical proteins and their annotated locations for NP_001137415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the shortest protein (isoform b).
    Source sequence(s)
    AB209286, AK302883, DB286332
    Consensus CDS
    CCDS44341.1
    UniProtKB/Swiss-Prot
    Q5VUJ9
    Related
    ENSP00000408661.2, ENST00000447569.6
    Conserved Domains (1) summary
    cl25352
    Location:1122
    EFh_PEF; The penta-EF hand (PEF) family
  2. NM_001290327.1NP_001277256.1  dynein regulatory complex protein 8 isoform c

    See identical proteins and their annotated locations for NP_001277256.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes in alternate exon, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The resulting protein (isoform c) is longer and has a distinct N-terminus compared to isoform b.
    Source sequence(s)
    AL356512, AL589763, BG546306
    Conserved Domains (3) summary
    PTZ00184
    Location:22168
    PTZ00184; calmodulin; Provisional
    cd00051
    Location:107167
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl08302
    Location:2891
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  3. NM_032328.3NP_115704.1  dynein regulatory complex protein 8 isoform a

    See identical proteins and their annotated locations for NP_115704.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and uses an alternate 3' terminal exon compared to variant 2. The resulting protein (isoform a) is longer and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AI038779, AI796049, AW661993, BC005357, BG701985, BQ438351, DB286332
    Consensus CDS
    CCDS31082.1
    UniProtKB/Swiss-Prot
    Q5VUJ9
    Related
    ENSP00000355480.1, ENST00000366523.5
    Conserved Domains (1) summary
    cl25352
    Location:1158
    EFh_PEF; The penta-EF hand (PEF) family

RNA

  1. NR_026587.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences compared to variant 2. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AB209286, AK001393, DB286332

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    244969739..245125228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544301.1XP_011542603.1  dynein regulatory complex protein 8 isoform X10

    See identical proteins and their annotated locations for XP_011542603.1

    Conserved Domains (3) summary
    PTZ00184
    Location:22168
    PTZ00184; calmodulin; Provisional
    cd00051
    Location:107167
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl08302
    Location:2891
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. XM_011544300.2XP_011542602.1  dynein regulatory complex protein 8 isoform X7

    Conserved Domains (3) summary
    PTZ00184
    Location:35181
    PTZ00184; calmodulin; Provisional
    cd00051
    Location:120180
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl08302
    Location:41104
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  3. XM_011544302.3XP_011542604.1  dynein regulatory complex protein 8 isoform X11

    Conserved Domains (2) summary
    cd00051
    Location:65125
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:65125
    EF-hand_7; EF-hand domain pair
  4. XM_017002545.1XP_016858034.1  dynein regulatory complex protein 8 isoform X9

  5. XM_017002539.1XP_016858028.1  dynein regulatory complex protein 8 isoform X2

  6. XM_017002540.1XP_016858029.1  dynein regulatory complex protein 8 isoform X3

  7. XM_017002538.1XP_016858027.1  dynein regulatory complex protein 8 isoform X1

  8. XM_017002543.1XP_016858032.1  dynein regulatory complex protein 8 isoform X6

  9. XM_017002541.1XP_016858030.1  dynein regulatory complex protein 8 isoform X4

    Related
    ENSP00000405269.1, ENST00000425550.5
  10. XM_017002542.2XP_016858031.1  dynein regulatory complex protein 8 isoform X5

  11. XM_017002544.1XP_016858033.1  dynein regulatory complex protein 8 isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_026586.1: Suppressed sequence

    Description
    NR_026586.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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