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

Gene ID: 730112, updated on 27-Nov-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, Nov 2024]
Expression
Biased expression in adrenal (RPKM 201.8) and brain (RPKM 11.3) See more
Orthologs
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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
  • 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)

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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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

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