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    CCSER2 coiled-coil serine rich protein 2 [ Homo sapiens (human) ]

    Gene ID: 54462, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCSER2provided by HGNC
    Official Full Name
    coiled-coil serine rich protein 2provided by HGNC
    Primary source
    HGNC:HGNC:29197
    See related
    Ensembl:ENSG00000107771 MIM:619944; AllianceGenome:HGNC:29197
    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
    Gcap14; FAM190B; KIAA1128; bA486O22.1
    Summary
    Predicted to enable microtubule binding activity. Predicted to act upstream of or within microtubule bundle formation. Predicted to be located in cytoplasm and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 13.5), testis (RPKM 13.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCSER2 in Genome Data Viewer
    Location:
    10q23.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (84328589..84518517)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (85207105..85397074)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (86088345..86278273)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:86004955-86005454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2553 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:86028972-86030171 Neighboring gene retinal G protein coupled receptor Neighboring gene long intergenic non-protein coding RNA 858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:86057631-86058131 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:86073792-86074670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3681 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17641 Neighboring gene Sharpr-MPRA regulatory region 13339 Neighboring gene ribosomal protein L12 pseudogene 29 Neighboring gene transportin 1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:86224343-86225178 Neighboring gene calcyclin binding protein pseudogene 1 Neighboring gene MPRA-validated peak1039 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17686 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:86284877-86285378 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:86285379-86285878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:86295009-86295508 Neighboring gene NANOG hESC enhancer GRCh37_chr10:86296761-86297465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:86302795-86303294 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:86327357-86327873 Neighboring gene uncharacterized LOC124902550 Neighboring gene RPS3A pseudogene 5

    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. Plk4 Promotes Cancer Invasion and Metastasis through Arp2/3 Complex Regulation of the Actin Cytoskeleton. Kazazian K, et al. Cancer Res, 2017 Jan 15. PMID 27872092
    2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
    3. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. O'Loughlin T, et al. EMBO Rep, 2018 Apr. PMID 29467281, Free PMC Article
    4. rec-YnH enables simultaneous many-by-many detection of direct protein-protein and protein-RNA interactions. Yang JS, et al. Nat Commun, 2018 Sep 14. PMID 30217970, Free PMC Article
    5. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. Camargo LM, et al. Mol Psychiatry, 2007 Jan. PMID 17043677

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of human Ccser2 as a protein tracking the plus-ends of microtubules.
      Title: Characterization of human Ccser2 as a protein tracking the plus-ends of microtubules.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    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

    • FLJ14262, FLJ25809, KIAA1128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in microtubule bundle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine-rich coiled-coil domain-containing protein 2
    Names
    family with sequence similarity 190, member B
    protein FAM190B
    protein GCAP14 homolog

    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_001284240.2 → NP_001271169.1  serine-rich coiled-coil domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001271169.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC074321, AF241785, AK298966, AL356115, BQ028021, BU599757, DC349473
      Consensus CDS
      CCDS60582.1
      UniProtKB/Swiss-Prot
      Q9H7U1
      Related
      ENSP00000361160.2, ENST00000372088.8

    2. NM_001284241.2 → NP_001271170.1  serine-rich coiled-coil domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001271170.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC074321, BC030528, BU599757, DC349473
      Consensus CDS
      CCDS73159.1
      UniProtKB/Swiss-Prot
      Q9H7U1
      Related
      ENSP00000353068.4, ENST00000359979.8

    3. NM_001284242.2 → NP_001271171.1  serine-rich coiled-coil domain-containing protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001271171.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC074321, AF241785, AK294321, AL356115, BQ028021, BQ440427
      UniProtKB/Swiss-Prot
      Q9H7U1

    4. NM_001284243.2 → NP_001271172.1  serine-rich coiled-coil domain-containing protein 2 isoform 5

      See identical proteins and their annotated locations for NP_001271172.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF241785, AK294321, AL356115, BQ028021
      Consensus CDS
      CCDS60583.1
      UniProtKB/Swiss-Prot
      Q9H7U1
      Related
      ENSP00000439944.1, ENST00000543283.2

    5. NM_001351290.2 → NP_001338219.1  serine-rich coiled-coil domain-containing protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC074321, AF241785, AL356115, BQ028021, BU599757, DA215550, DC349473, DR433316

    6. NM_001351292.2 → NP_001338221.1  serine-rich coiled-coil domain-containing protein 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC074321, AF241785, AL356115, BQ028021, BU599757, DA215550, DC349473, DR433316

    7. NM_018999.4 → NP_061872.2  serine-rich coiled-coil domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_061872.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC074321, AF241785, AL356115, BQ028021, BU599757, DC349473, DR433316
      Consensus CDS
      CCDS31235.1
      UniProtKB/Swiss-Prot
      B4DFY4, B4DQU9, B7WPE8, D3DWE2, Q8N6E9, Q9H2S0, Q9H7U1, Q9ULU1
      Related
      ENSP00000224756.8, ENST00000224756.12

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      84328589..84518517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269905.5 → XP_005269962.1  serine-rich coiled-coil domain-containing protein 2 isoform X2

    2. XM_017016341.2 → XP_016871830.1  serine-rich coiled-coil domain-containing protein 2 isoform X4

    3. XM_011539871.4 → XP_011538173.1  serine-rich coiled-coil domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011538173.1

    4. XM_047425366.1 → XP_047281322.1  serine-rich coiled-coil domain-containing protein 2 isoform X9

    5. XM_011539872.3 → XP_011538174.1  serine-rich coiled-coil domain-containing protein 2 isoform X5

    6. XM_047425367.1 → XP_047281323.1  serine-rich coiled-coil domain-containing protein 2 isoform X6

    7. XM_017016340.3 → XP_016871829.1  serine-rich coiled-coil domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H7U1

    8. XM_047425365.1 → XP_047281321.1  serine-rich coiled-coil domain-containing protein 2 isoform X1

    9. XM_047425368.1 → XP_047281324.1  serine-rich coiled-coil domain-containing protein 2 isoform X8

    10. XM_006717894.2 → XP_006717957.1  serine-rich coiled-coil domain-containing protein 2 isoform X7

      See identical proteins and their annotated locations for XP_006717957.1

    11. XM_006717895.2 → XP_006717958.1  serine-rich coiled-coil domain-containing protein 2 isoform X7

      See identical proteins and their annotated locations for XP_006717958.1

    12. XM_011539873.1 → XP_011538175.1  serine-rich coiled-coil domain-containing protein 2 isoform X7

      See identical proteins and their annotated locations for XP_011538175.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      85207105..85397074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366120.1 → XP_054222095.1  serine-rich coiled-coil domain-containing protein 2 isoform X2

    2. XM_054366122.1 → XP_054222097.1  serine-rich coiled-coil domain-containing protein 2 isoform X4

    3. XM_054366121.1 → XP_054222096.1  serine-rich coiled-coil domain-containing protein 2 isoform X3

    4. XM_054366123.1 → XP_054222098.1  serine-rich coiled-coil domain-containing protein 2 isoform X5

    5. XM_054366124.1 → XP_054222099.1  serine-rich coiled-coil domain-containing protein 2 isoform X6

    6. XM_054366119.1 → XP_054222094.1  serine-rich coiled-coil domain-containing protein 2 isoform X1

    7. XM_054366118.1 → XP_054222093.1  serine-rich coiled-coil domain-containing protein 2 isoform X1

    8. XM_054366127.1 → XP_054222102.1  serine-rich coiled-coil domain-containing protein 2 isoform X8

    9. XM_054366125.1 → XP_054222100.1  serine-rich coiled-coil domain-containing protein 2 isoform X7

    10. XM_054366126.1 → XP_054222101.1  serine-rich coiled-coil domain-containing protein 2 isoform X7

    RNA

    1. XR_008488221.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7U1.2 GenPept UniProtKB/Swiss-Prot:Q9H7U1

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