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    IQCD IQ motif containing D [ Homo sapiens (human) ]

    Gene ID: 115811, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IQCDprovided by HGNC
    Official Full Name
    IQ motif containing Dprovided by HGNC
    Primary source
    HGNC:HGNC:25168
    See related
    Ensembl:ENSG00000166578 AllianceGenome:HGNC:25168
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRC10; CFAP84; 4933433C09Rik
    Summary
    Located in ciliary basal body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 11.7), lung (RPKM 0.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See IQCD in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113195446..113221094, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113172069..113197717, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113633251..113658899, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 73 Neighboring gene microRNA 7106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7062 Neighboring gene DEAD-box helicase 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:113623217-113623866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113623867-113624517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113624518-113625167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113629297-113629950 Neighboring gene Sharpr-MPRA regulatory region 6569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113639865-113640756 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7068 Neighboring gene Sharpr-MPRA regulatory region 2606 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24601 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113669293-113669843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7072 Neighboring gene two pore segment channel 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113683649-113684312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113684313-113684976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113689411-113689911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24609 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:113705834-113706026 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24611 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24613 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736197-113736894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736895-113737590 Neighboring gene Sharpr-MPRA regulatory region 468 Neighboring gene NANOG hESC enhancer GRCh37_chr12:113740736-113741469 Neighboring gene microRNA 6762 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:113744904-113746103 Neighboring gene solute carrier family 8 member B1 Neighboring gene MPRA-validated peak1972 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4893

    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. Chromosome-centric human proteome project: deciphering proteins associated with glioma and neurodegenerative disorders on chromosome 12. Gupta MK, et al. J Proteome Res, 2014 Jul 3. PMID 24804578
    2. 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
    3. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
    4. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    5. Dynamic Protein Interactions of the Polycomb Repressive Complex 2 during Differentiation of Pluripotent Cells. Oliviero G, et al. Mol Cell Proteomics, 2016 Nov. PMID 27634302, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein regulatory complex protein 10
    Names
    IQ domain-containing protein D
    dynein regulatory complex subunit 10

    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.

    mRNA and Protein(s)

    1. NM_001330452.2 → NP_001317381.1  dynein regulatory complex protein 10 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC089999, AI638678, AK127152, BC013151, CD358970
      Consensus CDS
      CCDS81743.1
      UniProtKB/Swiss-Prot
      Q6ZSU0, Q96DY2
      Related
      ENSP00000400669.2, ENST00000416617.3
      Conserved Domains (1) summary
      COG1196
      Location:212 → 396
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. NM_138451.3 → NP_612460.1  dynein regulatory complex protein 10 isoform 2

      See identical proteins and their annotated locations for NP_612460.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini as isoform 1.
      Source sequence(s)
      AK127152, BC013151
      Consensus CDS
      CCDS9167.1
      Related
      ENSP00000299732.2, ENST00000299732.6
      Conserved Domains (1) summary
      cl25732
      Location:101 → 297
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      113195446..113221094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428264.1 → XP_047284220.1  dynein regulatory complex protein 10 isoform X5

    2. XM_005253834.5 → XP_005253891.1  dynein regulatory complex protein 10 isoform X6

      Conserved Domains (1) summary
      COG1196
      Location:56 → 215
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. XM_011537864.3 → XP_011536166.1  dynein regulatory complex protein 10 isoform X3

      Conserved Domains (1) summary
      TIGR02168
      Location:101 → 319
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    4. XM_047428258.1 → XP_047284214.1  dynein regulatory complex protein 10 isoform X1

    5. XM_047428263.1 → XP_047284219.1  dynein regulatory complex protein 10 isoform X4

    6. XM_047428262.1 → XP_047284218.1  dynein regulatory complex protein 10 isoform X3

    7. XM_047428259.1 → XP_047284215.1  dynein regulatory complex protein 10 isoform X1

    8. XM_005253833.5 → XP_005253890.1  dynein regulatory complex protein 10 isoform X2

      See identical proteins and their annotated locations for XP_005253890.1

      UniProtKB/Swiss-Prot
      Q6ZSU0, Q96DY2
      Conserved Domains (1) summary
      COG1196
      Location:212 → 396
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    9. XM_047428260.1 → XP_047284216.1  dynein regulatory complex protein 10 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      113172069..113197717 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371028.1 → XP_054227003.1  dynein regulatory complex protein 10 isoform X5

    2. XM_054371029.1 → XP_054227004.1  dynein regulatory complex protein 10 isoform X6

    3. XM_054371026.1 → XP_054227001.1  dynein regulatory complex protein 10 isoform X3

    4. XM_054371019.1 → XP_054226994.1  dynein regulatory complex protein 10 isoform X1

    5. XM_054371027.1 → XP_054227002.1  dynein regulatory complex protein 10 isoform X4

    6. XM_054371025.1 → XP_054227000.1  dynein regulatory complex protein 10 isoform X3

    7. XM_054371020.1 → XP_054226995.1  dynein regulatory complex protein 10 isoform X1

    8. XM_054371024.1 → XP_054226999.1  dynein regulatory complex protein 10 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZSU0, Q96DY2

    9. XM_054371022.1 → XP_054226997.1  dynein regulatory complex protein 10 isoform X1

    10. XM_054371021.1 → XP_054226996.1  dynein regulatory complex protein 10 isoform X1

    11. XM_054371023.1 → XP_054226998.1  dynein regulatory complex protein 10 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DY2.2 GenPept UniProtKB/Swiss-Prot:Q96DY2

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