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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
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Genomic context

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See CCDC122 in Genome Data Viewer
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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