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

    Gene ID: 84288, updated on 27-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
    mouse all
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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
    • 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)

    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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