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CIMIP2A ciliary microtubule inner protein 2A [ Homo sapiens (human) ]

Gene ID: 401565, updated on 11-Apr-2024

Summary

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Official Symbol
CIMIP2Aprovided by HGNC
Official Full Name
ciliary microtubule inner protein 2Aprovided by HGNC
Primary source
HGNC:HGNC:33818
See related
Ensembl:ENSG00000188163 AllianceGenome:HGNC:33818
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
HSD46; FAM166A
Summary
Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum (RPKM 20.3), testis (RPKM 18.9) and 21 other tissues See more
Orthologs
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Genomic context

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See CIMIP2A in Genome Data Viewer
Location:
9q34.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137243599..137255122, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149481268..149488986, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140138051..140142203, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr9:140121623-140122123 and GRCh37_chr9:140122257-140122882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140124150-140124650 Neighboring gene ring finger protein 224 Neighboring gene solute carrier family 34 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140140021-140140814 Neighboring gene tubulin beta 4B class IVb Neighboring gene uncharacterized LOC124902316 Neighboring gene STPG3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140149187-140150134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140150135-140151082 Neighboring gene sperm-tail PG-rich repeat containing 3 Neighboring gene negative elongation factor complex member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140157448-140158007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140165697-140166196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20606 Neighboring gene torsin family 4 member A

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. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
  2. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
  4. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (8) 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

  • FLJ40100

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 A tubule inner sheath IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
ciliary microtubule inner protein 2A
Names
family with sequence similarity 166 member A
protein FAM166A

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_001001710.3 → NP_001001710.1  ciliary microtubule inner protein 2A

    See identical proteins and their annotated locations for NP_001001710.1

    Status: VALIDATED

    Source sequence(s)
    AY604177
    Consensus CDS
    CCDS35186.1
    UniProtKB/Swiss-Prot
    A6NND9, Q6J272, Q8N830
    Related
    ENSP00000344729.4, ENST00000344774.6
    Conserved Domains (1) summary
    pfam10629
    Location:13 → 45
    DUF2475; Protein of unknown function (DUF2475)

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    137243599..137255122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423396.1 → XP_047279352.1  ciliary microtubule inner protein 2A isoform X1

  2. XM_047423399.1 → XP_047279355.1  ciliary microtubule inner protein 2A isoform X1

  3. XM_047423398.1 → XP_047279354.1  ciliary microtubule inner protein 2A isoform X1

  4. XM_047423397.1 → XP_047279353.1  ciliary microtubule inner protein 2A isoform X1

  5. XM_024447551.2 → XP_024303319.1  ciliary microtubule inner protein 2A isoform X3

  6. XM_047423400.1 → XP_047279356.1  ciliary microtubule inner protein 2A isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149481268..149488986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362976.1 → XP_054218951.1  ciliary microtubule inner protein 2A isoform X1

  2. XM_054362975.1 → XP_054218950.1  ciliary microtubule inner protein 2A isoform X1

  3. XM_054362979.1 → XP_054218954.1  ciliary microtubule inner protein 2A isoform X5

  4. XM_054362977.1 → XP_054218952.1  ciliary microtubule inner protein 2A isoform X4

  5. XM_054362981.1 → XP_054218956.1  ciliary microtubule inner protein 2A isoform X3

  6. XM_054362980.1 → XP_054218955.1  ciliary microtubule inner protein 2A isoform X6

  7. XM_054362978.1 → XP_054218953.1  ciliary microtubule inner protein 2A isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6J272.1 GenPept UniProtKB/Swiss-Prot:Q6J272

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