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    CIMIP2B ciliary microtubule inner protein 2B [ Homo sapiens (human) ]

    Gene ID: 730112, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CIMIP2Bprovided by HGNC
    Official Full Name
    ciliary microtubule inner protein 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:34242
    See related
    Ensembl:ENSG00000215187 AllianceGenome:HGNC:34242
    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
    FAM166B
    Summary
    Located in axonemal microtubule. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in adrenal (RPKM 201.8) and brain (RPKM 11.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMIP2B in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35561831..35563878, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35582504..35584551, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35561828..35563875, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376026 Neighboring gene RUN and SH3 domain containing 2 Neighboring gene ribosomal protein L36a pseudogene 33 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:35561040-35561232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28325 Neighboring gene Sharpr-MPRA regulatory region 2201 Neighboring gene ribosomal protein S29 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19867 Neighboring gene Sharpr-MPRA regulatory region 203 Neighboring gene microRNA 4667 Neighboring gene testis associated actin remodelling kinase 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 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. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    2. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    3. High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. Cappella M, et al. Cell Death Dis, 2018 Jun 28. PMID 29955039, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (7) 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)

    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

    • MGC157846

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ciliary microtubule inner protein 2B
    Names
    family with sequence similarity 166 member B
    protein FAM166B

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001099951.4 → NP_001093421.1  ciliary microtubule inner protein 2B isoform 2

      See identical proteins and their annotated locations for NP_001093421.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AI383111, BC129999, CB241755
      Consensus CDS
      CCDS47963.1
      UniProtKB/Swiss-Prot
      A8MTA8
      Related
      ENSP00000412746.1, ENST00000447837.1
      Conserved Domains (1) summary
      pfam10629
      Location:16 → 45
      DUF2475; Protein of unknown function (DUF2475)

    2. NM_001164310.3 → NP_001157782.1  ciliary microtubule inner protein 2B isoform 1

      See identical proteins and their annotated locations for NP_001157782.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AI383111, BC146928, CB241755
      Consensus CDS
      CCDS56572.1
      UniProtKB/Swiss-Prot
      A1L3B2, A8MTA8, B7ZBJ0
      UniProtKB/TrEMBL
      B7ZW26
      Related
      ENSP00000382646.2, ENST00000399742.7
      Conserved Domains (1) summary
      pfam10629
      Location:16 → 72
      DUF2475; Protein of unknown function (DUF2475)

    3. NM_001287238.2 → NP_001274167.1  ciliary microtubule inner protein 2B isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform 3) has a distinct internal region and is shorter than isoform 1.
      Source sequence(s)
      AI383111, BC171840, CB241755
      UniProtKB/TrEMBL
      B7ZW26
      Conserved Domains (1) summary
      pfam10629
      Location:16 → 72
      DUF2475; Protein of unknown function (DUF2475)

    4. NM_001287239.2 → NP_001274168.1  ciliary microtubule inner protein 2B isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the coding region, which results in a translational frameshift, compared to variant 1. This resulting protein (isoform 4) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AI383111, BC129999, BC171840, BC171851, CB241755
      UniProtKB/TrEMBL
      A0A8V8TLC2
      Related
      ENSP00000513459.1, ENST00000492890.5
      Conserved Domains (1) summary
      pfam10629
      Location:16 → 72
      DUF2475; Protein of unknown function (DUF2475)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35561831..35563878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518028.3 → XP_011516330.1  ciliary microtubule inner protein 2B isoform X1

      UniProtKB/TrEMBL
      A0A8V8TLC2
      Conserved Domains (1) summary
      pfam10629
      Location:17 → 67
      DUF2475; Protein of unknown function (DUF2475)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35582504..35584551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363742.1 → XP_054219717.1  ciliary microtubule inner protein 2B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MTA8.1 GenPept UniProtKB/Swiss-Prot:A8MTA8

    Gene LinkOut

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

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