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    CCDC141 coiled-coil domain containing 141 [ Homo sapiens (human) ]

    Gene ID: 285025, updated on 27-Dec-2024

    Summary

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    Official Symbol
    CCDC141provided by HGNC
    Official Full Name
    coiled-coil domain containing 141provided by HGNC
    Primary source
    HGNC:HGNC:26821
    See related
    Ensembl:ENSG00000163492 MIM:616031; AllianceGenome:HGNC:26821
    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
    CAMDI
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in brain development. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome and cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in heart (RPKM 4.9), lung (RPKM 0.5) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC141 in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178814978..179050137, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (179298041..179533308, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179694484..179914864, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene titin Neighboring gene uncharacterized LOC124906101 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 Neighboring gene uncharacterized LOC101927055 Neighboring gene RNA, U7 small nuclear 104 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:179735609-179736808 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:179738995-179740194 Neighboring gene uncharacterized LOC105373766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16817 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179922464-179923068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:179931204-179931704 Neighboring gene ribosomal protein S6 pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56698 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56700 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16819 Neighboring gene MPRA-validated peak3949 silencer Neighboring gene MPRA-validated peak3950 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56707 Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56714 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56716 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56717 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56718 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56719 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56720 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56724 Neighboring gene SEC14 and spectrin domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:180060941-180061440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16820 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:180128689-180128852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12154 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:180132793-180133294 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:180133295-180133798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16821 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:180142211-180142711 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:180208678-180209877 Neighboring gene RAD52 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism. Hou Q, et al. Eur J Endocrinol, 2020 Sep. PMID 32520725
    2. CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. Turan I, et al. J Clin Endocrinol Metab, 2017 Jun 1. PMID 28324054, Free PMC Article
    3. CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. Hutchins BI, et al. Endocrinology, 2016 May. PMID 27014940, Free PMC Article
    4. CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration. Fukuda T, et al. J Biol Chem, 2010 Dec 24. PMID 20956536, Free PMC Article
    5. Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. He J, et al. Circ Cardiovasc Genet, 2013 Dec. PMID 24165912, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.
      Title: Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.
    2. These studies confirm that inactivating CCDC141 variants cause normosmic idiopathic hypogonadotropic hypogonadism but not Kallmann syndrome .
      Title: CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
    3. report of a CCDC141 mutation as a new example of genetic aberration associated with Kallmann Syndrome
      Title: CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.
    4. CAMDI is required for radial migration probably through DISC1 and myosin II-mediated centrosome positioning during neuronal development.
      Title: CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    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

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog

    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

    • FLJ26337, FLJ39502, MGC134803, DKFZp686G197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centrosome localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebral cortex radially oriented cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 141
    Names
    coiled-coil protein associated with myosin II and DISC1

    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_001316745.2 → NP_001303674.1  coiled-coil domain-containing protein 141 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, lacks multiple exons in the 3' coding region and its transcription extends past a splice site compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC092640, AC093792, AL832777
      Consensus CDS
      CCDS82538.1
      UniProtKB/TrEMBL
      B8ZZB3, C9JR62
      Related
      ENSP00000386503.1, ENST00000409284.1
      Conserved Domains (1) summary
      cl02488
      Location:132 → 356
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    2. NM_173648.4 → NP_775919.3  coiled-coil domain-containing protein 141 isoform 1

      See identical proteins and their annotated locations for NP_775919.3

      Status: VALIDATED

      Source sequence(s)
      AC023270, AC092640, AC093792, AK096821, AL832777, BC115378
      UniProtKB/Swiss-Prot
      H7C0P1, J3KNW6, Q6ZP82, Q8N8H3
      Related
      ENSP00000390190.2, ENST00000443758.7
      Conserved Domains (4) summary
      pfam07679
      Location:1409 → 1498
      I-set; Immunoglobulin I-set domain
      TIGR02168
      Location:221 → 846
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl02488
      Location:132 → 356
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl11960
      Location:1425 → 1498
      Ig; Immunoglobulin 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      178814978..179050137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443998.1 → XP_047299954.1  coiled-coil domain-containing protein 141 isoform X9

    2. XM_047443994.1 → XP_047299950.1  coiled-coil domain-containing protein 141 isoform X7

    3. XM_047443993.1 → XP_047299949.1  coiled-coil domain-containing protein 141 isoform X7

    4. XM_047443996.1 → XP_047299952.1  coiled-coil domain-containing protein 141 isoform X7

    5. XM_047443988.1 → XP_047299944.1  coiled-coil domain-containing protein 141 isoform X5

    6. XM_047443985.1 → XP_047299941.1  coiled-coil domain-containing protein 141 isoform X3

    7. XM_047443986.1 → XP_047299942.1  coiled-coil domain-containing protein 141 isoform X3

    8. XM_047443992.1 → XP_047299948.1  coiled-coil domain-containing protein 141 isoform X7

    9. XM_047443989.1 → XP_047299945.1  coiled-coil domain-containing protein 141 isoform X5

    10. XM_047443997.1 → XP_047299953.1  coiled-coil domain-containing protein 141 isoform X8

    11. XM_047443995.1 → XP_047299951.1  coiled-coil domain-containing protein 141 isoform X7

    12. XM_047443990.1 → XP_047299946.1  coiled-coil domain-containing protein 141 isoform X5

    13. XM_011510992.4 → XP_011509294.1  coiled-coil domain-containing protein 141 isoform X3

      Conserved Domains (2) summary
      cd00176
      Location:132 → 356
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:221 → 846
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    14. XM_047443983.1 → XP_047299939.1  coiled-coil domain-containing protein 141 isoform X1

    15. XM_047443991.1 → XP_047299947.1  coiled-coil domain-containing protein 141 isoform X6

    16. XM_047443987.1 → XP_047299943.1  coiled-coil domain-containing protein 141 isoform X4

    17. XM_047443984.1 → XP_047299940.1  coiled-coil domain-containing protein 141 isoform X2

    18. XM_011510991.4 → XP_011509293.1  coiled-coil domain-containing protein 141 isoform X1

      Conserved Domains (2) summary
      cd00176
      Location:132 → 356
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:221 → 846
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      179298041..179533308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341497.1 → XP_054197472.1  coiled-coil domain-containing protein 141 isoform X7

    2. XM_054341492.1 → XP_054197467.1  coiled-coil domain-containing protein 141 isoform X12

    3. XM_054341500.1 → XP_054197475.1  coiled-coil domain-containing protein 141 isoform X9

    4. XM_054341496.1 → XP_054197471.1  coiled-coil domain-containing protein 141 isoform X7

    5. XM_054341495.1 → XP_054197470.1  coiled-coil domain-containing protein 141 isoform X7

    6. XM_054341498.1 → XP_054197473.1  coiled-coil domain-containing protein 141 isoform X7

    7. XM_054341490.1 → XP_054197465.1  coiled-coil domain-containing protein 141 isoform X12

    8. XM_054341485.1 → XP_054197460.1  coiled-coil domain-containing protein 141 isoform X10

    9. XM_054341486.1 → XP_054197461.1  coiled-coil domain-containing protein 141 isoform X10

    10. XM_054341494.1 → XP_054197469.1  coiled-coil domain-containing protein 141 isoform X7

    11. XM_054341491.1 → XP_054197466.1  coiled-coil domain-containing protein 141 isoform X12

    12. XM_054341493.1 → XP_054197468.1  coiled-coil domain-containing protein 141 isoform X13

    13. XM_054341499.1 → XP_054197474.1  coiled-coil domain-containing protein 141 isoform X8

    14. XM_054341489.1 → XP_054197464.1  coiled-coil domain-containing protein 141 isoform X4

    15. XM_054341487.1 → XP_054197462.1  coiled-coil domain-containing protein 141 isoform X11

    16. XM_054341488.1 → XP_054197463.1  coiled-coil domain-containing protein 141 isoform X1

    17. XM_054341501.1 → XP_054197476.1  coiled-coil domain-containing protein 141 isoform X14

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZP82.3 GenPept UniProtKB/Swiss-Prot:Q6ZP82

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