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    CEP97 centrosomal protein 97 [ Homo sapiens (human) ]

    Gene ID: 79598, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CEP97provided by HGNC
    Official Full Name
    centrosomal protein 97provided by HGNC
    Primary source
    HGNC:HGNC:26244
    See related
    Ensembl:ENSG00000182504 MIM:615864; AllianceGenome:HGNC:26244
    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
    LRRIQ2; 2810403B08Rik
    Summary
    Predicted to enable calmodulin binding activity. Involved in negative regulation of cilium assembly and regulation of mitotic spindle assembly. Located in centriole and centrosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Ubiquitous expression in testis (RPKM 4.1), brain (RPKM 4.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP97 in Genome Data Viewer
    Location:
    3q12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (101724614..101770562)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (104437398..104483348)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (101443458..101489406)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20178 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:101444325-101444936 Neighboring gene PDCL3 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20179 Neighboring gene Sharpr-MPRA regulatory region 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20180 Neighboring gene neurexophilin and PC-esterase domain family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20184 Neighboring gene Sharpr-MPRA regulatory region 1067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20185 Neighboring gene Sharpr-MPRA regulatory region 7874 Neighboring gene NFKB inhibitor zeta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20186 Neighboring gene MPRA-validated peak4754 silencer Neighboring gene RIG-I dependent antiviral response regulator RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20187

    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 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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    GeneRIFs: Gene References Into Functions

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23047, FLJ26462

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 97 kDa
    Names
    leucine-rich repeat and IQ domain-containing protein 2
    leucine-rich repeats and IQ motif containing 2

    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_001303401.2 → NP_001290330.1  centrosomal protein of 97 kDa isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC084198, AK294784, BC041085, DA520309
      Consensus CDS
      CCDS77780.1
      UniProtKB/TrEMBL
      B4DGU8, E9PG22
      Related
      ENSP00000418185.1, ENST00000494050.5
      Conserved Domains (4) summary
      cd00116
      Location:78 → 200
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:17 → 37
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:124 → 161
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:103 → 156
      LRR_8; Leucine rich repeat

    2. NM_001410784.1 → NP_001397713.1  centrosomal protein of 97 kDa isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC084198
      Consensus CDS
      CCDS93335.1
      UniProtKB/TrEMBL
      A0A994J4L0
      Related
      ENSP00000515874.1, ENST00000704366.1

    3. NM_001410785.1 → NP_001397714.1  centrosomal protein of 97 kDa isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC084198
      Consensus CDS
      CCDS93336.1
      UniProtKB/TrEMBL
      A0A994J7E5
      Related
      ENSP00000515875.1, ENST00000704367.1

    4. NM_024548.4 → NP_078824.2  centrosomal protein of 97 kDa isoform 1

      See identical proteins and their annotated locations for NP_078824.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC084198, BC041085, DA520309
      Consensus CDS
      CCDS2944.1
      UniProtKB/Swiss-Prot
      B5MDY8, Q8IW35, Q8NA71, Q9H5T9
      UniProtKB/TrEMBL
      A0A994J704
      Related
      ENSP00000342510.3, ENST00000341893.8
      Conserved Domains (4) summary
      cd00116
      Location:78 → 200
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:17 → 37
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:124 → 161
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:103 → 156
      LRR_8; Leucine rich repeat

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      101724614..101770562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448917.1 → XP_047304873.1  centrosomal protein of 97 kDa isoform X1

      UniProtKB/TrEMBL
      A0A994J522
      Related
      ENSP00000515897.1, ENST00000704445.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      104437398..104483348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347858.1 → XP_054203833.1  centrosomal protein of 97 kDa isoform X1

      UniProtKB/TrEMBL
      A0A994J522
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IW35.1 GenPept UniProtKB/Swiss-Prot:Q8IW35

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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