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

Gene ID: 84288, updated on 2-Nov-2024

Summary

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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 MIM:619617; AllianceGenome:HGNC:28166
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
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Genomic context

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See EFCAB2 in Genome Data Viewer
Location:
1q44
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244969682..245125229)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (244386344..244542663)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (245132984..245288530)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 55 Neighboring gene RNA, U6 small nuclear 947, pseudogene Neighboring gene uncharacterized LOC124900416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:245131334-245131838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2024 Neighboring gene EFCAB2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2849 Neighboring gene uncharacterized LOC107985725 Neighboring gene RNA, U6 small nuclear 1089, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:245209832-245210332 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:245210333-245210833 Neighboring gene RNA, U6 small nuclear 999, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:245215377-245215878 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:245248413-245249612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:245262289-245262798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:245262799-245263308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:245270238-245270738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:245270739-245271239 Neighboring gene uncharacterized LOC124904572 Neighboring gene RNA, U1 small nuclear 132, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

Bibliography

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Related articles in PubMed

  1. The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes. Bower R, et al. Mol Biol Cell, 2013 Apr. PMID 23427265, Free PMC Article
  2. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article
  3. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33608, MGC12458

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in sperm principal piece IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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)

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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
    4814..122969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143943.1 → NP_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/TrEMBL
    H0Y6F0
    Related
    ENSP00000408661.2, ENST00000447569.6
    Conserved Domains (1) summary
    cl25352
    Location:1 → 122
    EFh_PEF; The penta-EF hand (PEF) family

  2. NM_001290327.2 → NP_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 (1) summary
    PTZ00184
    Location:22 → 168
    PTZ00184; calmodulin; Provisional

  3. NM_032328.4 → NP_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)
    AL356512, AW661993, BC005357, BG701985, BQ438351, DB286332
    Consensus CDS
    CCDS31082.1
    UniProtKB/Swiss-Prot
    Q5VUJ9
    Related
    ENSP00000355480.1, ENST00000366523.6
    Conserved Domains (1) summary
    PTZ00184
    Location:1 → 158
    PTZ00184; calmodulin; Provisional

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    244969682..245125229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002543.2 → XP_016858032.1  dynein regulatory complex protein 8 isoform X15

    UniProtKB/TrEMBL
    H0Y6F0
    Conserved Domains (1) summary
    PTZ00184
    Location:17 → 135
    PTZ00184; calmodulin; Provisional

  2. XM_017002542.3 → XP_016858031.1  dynein regulatory complex protein 8 isoform X13

    UniProtKB/TrEMBL
    H0Y6F0
    Conserved Domains (1) summary
    PTZ00184
    Location:17 → 135
    PTZ00184; calmodulin; Provisional

  3. XM_011544301.2 → XP_011542603.1  dynein regulatory complex protein 8 isoform X9

    See identical proteins and their annotated locations for XP_011542603.1

    Conserved Domains (1) summary
    PTZ00184
    Location:22 → 168
    PTZ00184; calmodulin; Provisional

  4. XM_047432067.1 → XP_047288023.1  dynein regulatory complex protein 8 isoform X11

  5. XM_047432068.1 → XP_047288024.1  dynein regulatory complex protein 8 isoform X14

  6. XM_017002539.2 → XP_016858028.2  dynein regulatory complex protein 8 isoform X3

  7. XM_017002540.2 → XP_016858029.2  dynein regulatory complex protein 8 isoform X4

  8. XM_017002538.2 → XP_016858027.2  dynein regulatory complex protein 8 isoform X2

  9. XM_047432066.1 → XP_047288022.1  dynein regulatory complex protein 8 isoform X7

  10. XM_047432071.1 → XP_047288027.1  dynein regulatory complex protein 8 isoform X18

    Related
    ENSP00000447807.1, ENST00000551317.5

  11. XM_047432065.1 → XP_047288021.1  dynein regulatory complex protein 8 isoform X6

  12. XM_017002541.2 → XP_016858030.2  dynein regulatory complex protein 8 isoform X5

  13. XM_047432069.1 → XP_047288025.1  dynein regulatory complex protein 8 isoform X16

  14. XM_047432064.1 → XP_047288020.1  dynein regulatory complex protein 8 isoform X1

  15. XM_017002545.2 → XP_016858034.1  dynein regulatory complex protein 8 isoform X12

    Conserved Domains (1) summary
    PTZ00184
    Location:79 → 133
    PTZ00184; calmodulin; Provisional

  16. XM_011544300.3 → XP_011542602.1  dynein regulatory complex protein 8 isoform X8

    Conserved Domains (1) summary
    PTZ00184
    Location:35 → 181
    PTZ00184; calmodulin; Provisional

  17. XM_047432070.1 → XP_047288026.1  dynein regulatory complex protein 8 isoform X17

  18. XM_017002544.2 → XP_016858033.1  dynein regulatory complex protein 8 isoform X10

    Conserved Domains (1) summary
    PTZ00184
    Location:5 → 151
    PTZ00184; calmodulin; Provisional

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    244386344..244542663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339167.1 → XP_054195142.1  dynein regulatory complex protein 8 isoform X21

  2. XM_054339180.1 → XP_054195155.1  dynein regulatory complex protein 8 isoform X15

  3. XM_054339178.1 → XP_054195153.1  dynein regulatory complex protein 8 isoform X13

  4. XM_054339174.1 → XP_054195149.1  dynein regulatory complex protein 8 isoform X9

  5. XM_054339176.1 → XP_054195151.1  dynein regulatory complex protein 8 isoform X11

  6. XM_054339179.1 → XP_054195154.1  dynein regulatory complex protein 8 isoform X14

  7. XM_054339168.1 → XP_054195143.1  dynein regulatory complex protein 8 isoform X4

  8. XM_054339164.1 → XP_054195139.1  dynein regulatory complex protein 8 isoform X19

  9. XM_054339171.1 → XP_054195146.1  dynein regulatory complex protein 8 isoform X22

  10. XM_054339172.1 → XP_054195147.1  dynein regulatory complex protein 8 isoform X7

  11. XM_054339183.1 → XP_054195158.1  dynein regulatory complex protein 8 isoform X18

  12. XM_054339170.1 → XP_054195145.1  dynein regulatory complex protein 8 isoform X6

  13. XM_054339169.1 → XP_054195144.1  dynein regulatory complex protein 8 isoform X5

  14. XM_054339181.1 → XP_054195156.1  dynein regulatory complex protein 8 isoform X16

  15. XM_054339165.1 → XP_054195140.1  dynein regulatory complex protein 8 isoform X1

  16. XM_054339177.1 → XP_054195152.1  dynein regulatory complex protein 8 isoform X12

  17. XM_054339166.1 → XP_054195141.1  dynein regulatory complex protein 8 isoform X20

  18. XM_054339175.1 → XP_054195150.1  dynein regulatory complex protein 8 isoform X24

  19. XM_054339182.1 → XP_054195157.1  dynein regulatory complex protein 8 isoform X17

  20. XM_054339173.1 → XP_054195148.1  dynein regulatory complex protein 8 isoform X23

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VUJ9.1 GenPept UniProtKB/Swiss-Prot:Q5VUJ9

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