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

Gene ID: 285025, updated on 5-Mar-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 be involved in axon guidance and cell adhesion. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome; cytoplasm; and plasma membrane. Predicted to be active in neuron projection. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart (RPKM 4.9), lung (RPKM 0.5) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
2q31.2
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178814978..179050137, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (179298041..179533308, complement)
105.20220307 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: 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. 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)

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

  • 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_2023_10

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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