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    CTTNBP2NL CTTNBP2 N-terminal like [ Homo sapiens (human) ]

    Gene ID: 55917, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CTTNBP2NLprovided by HGNC
    Official Full Name
    CTTNBP2 N-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:25330
    See related
    Ensembl:ENSG00000143079 MIM:615100; AllianceGenome:HGNC:25330
    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
    Summary
    Enables protein phosphatase 2A binding activity. Acts upstream of or within negative regulation of transmembrane transport; negative regulation of transporter activity; and protein dephosphorylation. Located in actin cytoskeleton. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 9.4), gall bladder (RPKM 9.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CTTNBP2NL in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (112391087..112461164)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (112403339..112473705)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (112938836..113003786)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112928422-112928957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112928958-112929492 Neighboring gene thioredoxin pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112947097-112947622 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:112950375-112950562 Neighboring gene Sharpr-MPRA regulatory region 6417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1512 Neighboring gene MPRA-validated peak369 silencer Neighboring gene microRNA 4256 Neighboring gene Wnt family member 2B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113050855-113051398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1200 Neighboring gene Sharpr-MPRA regulatory region 8072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113052323-113052822 Neighboring gene suppression of tumorigenicity 7 like

    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. Genetic variants related to gap junctions and hormone secretion influence conception rates in cows. Sugimoto M, et al. Proc Natl Acad Sci U S A, 2013 Nov 26. PMID 24218568, Free PMC Article
    2. HectD1 E3 ligase modifies adenomatous polyposis coli (APC) with polyubiquitin to promote the APC-axin interaction. Tran H, et al. J Biol Chem, 2013 Feb 8. PMID 23277359, Free PMC Article
    3. Ubiquitin Specific Peptidase 15 (USP15) suppresses glioblastoma cell growth via stabilization of HECTD1 E3 ligase attenuating WNT pathway activity. Oikonomaki M, et al. Oncotarget, 2017 Dec 15. PMID 29299163, Free PMC Article
    4. A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. Goudreault M, et al. Mol Cell Proteomics, 2009 Jan. PMID 18782753, Free PMC Article
    5. CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma. Chuah YH, et al. Cell Death Differ, 2023 Aug. PMID 37468549, Free PMC Article

    See all (60) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13278, DKFZp547A023

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 2A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of FAR/SIN/STRIPAK complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    CTTNBP2 N-terminal-like protein

    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_018704.3 → NP_061174.1  CTTNBP2 N-terminal-like protein

      See identical proteins and their annotated locations for NP_061174.1

      Status: VALIDATED

      Source sequence(s)
      AL354760, AL598321, BE645464, DA238082, DB236769
      Consensus CDS
      CCDS845.1
      UniProtKB/Swiss-Prot
      B3KMS5, Q96B40, Q9P2B4
      Related
      ENSP00000271277.6, ENST00000271277.11
      Conserved Domains (2) summary
      pfam09727
      Location:5 → 188
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:96 → 246
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      112391087..112461164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001806.2 → XP_016857295.1  CTTNBP2 N-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      B3KMS5, Q96B40, Q9P2B4
      Conserved Domains (2) summary
      pfam09727
      Location:5 → 188
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:96 → 246
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. XM_011541781.3 → XP_011540083.1  CTTNBP2 N-terminal-like protein isoform X1

      See identical proteins and their annotated locations for XP_011540083.1

      UniProtKB/Swiss-Prot
      B3KMS5, Q96B40, Q9P2B4
      Conserved Domains (2) summary
      pfam09727
      Location:5 → 188
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:96 → 246
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    3. XM_047425362.1 → XP_047281318.1  CTTNBP2 N-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      B3KMS5, Q96B40, Q9P2B4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      112403339..112473705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337705.1 → XP_054193680.1  CTTNBP2 N-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      B3KMS5, Q96B40, Q9P2B4

    2. XM_054337703.1 → XP_054193678.1  CTTNBP2 N-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      B3KMS5, Q96B40, Q9P2B4

    3. XM_054337704.1 → XP_054193679.1  CTTNBP2 N-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      B3KMS5, Q96B40, Q9P2B4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2B4.2 GenPept UniProtKB/Swiss-Prot:Q9P2B4

    Gene LinkOut

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

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