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    CCDC122 coiled-coil domain containing 122 [ Homo sapiens (human) ]

    Gene ID: 160857, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CCDC122provided by HGNC
    Official Full Name
    coiled-coil domain containing 122provided by HGNC
    Primary source
    HGNC:HGNC:26478
    See related
    Ensembl:ENSG00000151773 MIM:613408; AllianceGenome:HGNC:26478
    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
    Summary
    This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in prostate (RPKM 1.4), ovary (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q14.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (43819018..43879740, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43037902..43098601, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (44410488..44453876, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ecto-NOX disulfide-thiol exchanger 1 Neighboring gene ENOX1 antisense RNA 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:44196698-44197897 Neighboring gene Sharpr-MPRA regulatory region 7351 Neighboring gene uncharacterized LOC124903166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5303 Neighboring gene laccase domain containing 1 Neighboring gene uncharacterized LOC105370182 Neighboring gene diacylglycerol kinase zeta pseudogene 1

    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. Crohn's disease susceptibility genes are associated with leprosy in the Vietnamese population. Grant AV, et al. J Infect Dis, 2012 Dec 1. PMID 22984114
    2. Human genetic susceptibility to infectious disease. Chapman SJ, et al. Nat Rev Genet, 2012 Feb 7. PMID 22310894
    3. Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes. Umm-e-Kalsoom, et al. Hum Genet, 2012 Mar. PMID 21877132
    4. Association between genetic variants in NOD2, C13orf31, and CCDC122 genes and leprosy among the Chinese Yi population. Xiong JH, et al. Int J Dermatol, 2016 Jan. PMID 26235265
    5. NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians. Sales-Marques C, et al. Hum Genet, 2014 Dec. PMID 25367361

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between leprosy and tag SNPs at NOD2 (rs8057431) and CCDC122-LACC1 (rs4942254).
      Title: NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genomewide association study of leprosy.
    3. the apparent occurrence of an unusual TG 3' splice site in intron 7 (according to mRNA AK056408) is discussed
      Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • FLJ31846

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 122

    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_001350617.2 → NP_001337546.1  coiled-coil domain-containing protein 122 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL512506, AW373287, BP334515, CA427248
      Conserved Domains (1) summary
      cl25732
      Location:10 → 144
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001350618.2 → NP_001337547.1  coiled-coil domain-containing protein 122 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL512506, CA427248
      Conserved Domains (1) summary
      cl25732
      Location:10 → 144
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_144974.5 → NP_659411.2  coiled-coil domain-containing protein 122 isoform 1

      See identical proteins and their annotated locations for NP_659411.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL512506, AW373287, CA427248, DA739121
      Consensus CDS
      CCDS9390.2
      UniProtKB/Swiss-Prot
      B2RP70, B7ZMI9, Q5T0U0, Q96MV0
      Related
      ENSP00000407763.2, ENST00000444614.8
      Conserved Domains (1) summary
      cl15838
      Location:14 → 81
      Phage_GPO; Phage capsid scaffolding protein (GPO) serine peptidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      43819018..43879740 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430112.1 → XP_047286068.1  coiled-coil domain-containing protein 122 isoform X3

    2. XM_047430113.1 → XP_047286069.1  coiled-coil domain-containing protein 122 isoform X3

    3. XM_024449327.2 → XP_024305095.1  coiled-coil domain-containing protein 122 isoform X5

      Conserved Domains (1) summary
      cl25732
      Location:10 → 144
      SMC_N; RecF/RecN/SMC N terminal domain

    4. XM_024449324.2 → XP_024305092.1  coiled-coil domain-containing protein 122 isoform X5

      Conserved Domains (1) summary
      cl25732
      Location:10 → 144
      SMC_N; RecF/RecN/SMC N terminal domain

    5. XM_017020397.3 → XP_016875886.1  coiled-coil domain-containing protein 122 isoform X1

      UniProtKB/Swiss-Prot
      B2RP70, B7ZMI9, Q5T0U0, Q96MV0
      Conserved Domains (1) summary
      cl15838
      Location:14 → 81
      Phage_GPO; Phage capsid scaffolding protein (GPO) serine peptidase

    6. XM_017020398.2 → XP_016875887.1  coiled-coil domain-containing protein 122 isoform X2

      Conserved Domains (1) summary
      cl15838
      Location:14 → 81
      Phage_GPO; Phage capsid scaffolding protein (GPO) serine peptidase

    7. XM_047430114.1 → XP_047286070.1  coiled-coil domain-containing protein 122 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      43037902..43098601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374139.1 → XP_054230114.1  coiled-coil domain-containing protein 122 isoform X3

    2. XM_054374140.1 → XP_054230115.1  coiled-coil domain-containing protein 122 isoform X3

    3. XM_054374143.1 → XP_054230118.1  coiled-coil domain-containing protein 122 isoform X5

    4. XM_054374142.1 → XP_054230117.1  coiled-coil domain-containing protein 122 isoform X5

    5. XM_054374137.1 → XP_054230112.1  coiled-coil domain-containing protein 122 isoform X1

      UniProtKB/Swiss-Prot
      B2RP70, B7ZMI9, Q5T0U0, Q96MV0

    6. XM_054374138.1 → XP_054230113.1  coiled-coil domain-containing protein 122 isoform X2

    7. XM_054374141.1 → XP_054230116.1  coiled-coil domain-containing protein 122 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T0U0.1 GenPept UniProtKB/Swiss-Prot:Q5T0U0

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