CIMIP2B
| CIMIP2B | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CIMIP2B, family with sequence similarity 166 member B, FAM166B, Ciliary microtubule inner protein 2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2445194; GeneCards: CIMIP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ciliary microtubule inner protein 2B protein that in humans is encoded by the CIMIP2B gene (previously FAM166B).[5] The CIMIP2B protein is a cilia protein which is involved in their movement.[6]
Gene
The FAM166B gene is located on the short arm of chromosome 9 at 9p13.3 on the minus strand.[5] The genomic sequence spans 2,069 base pairs from 35563899 to 35561830. Gene neighbors are RUSC2, RPS29P17, and TESK1.
Expression
FAM166B is expressed 0.5 times higher than average in humans.[7] FAM166B is highly expressed in the adrenal gland, fallopian tube, and respiratory epithelial tissues. It is weakly to moderately expressed in skeletal muscle and heart muscle.[8][9][10]
Promoter
FAM166B is predicted to have a promoter that spans 680 bp and includes the 5' UTR.[11]
mRNA
In humans, FAM166B has 10 transcript variants, which are all spliced.[7] FAM166B transcript variant 1 is 1,092 bp in length and contains 6 total exons. The accession number for this variant is NM_001164310.[12]
Protein
The amino acid sequence is 275 amino acids in length and contains 3 DUF 2475 regions.[13] The three DUF2475 regions are located from amino acids 15 to 80, 174 to 234, and 234 to 261.The predicted molecular weight is 30.6 kdal with the predicted isoelectric point of 8.414.[14] It is known to have a higher than normal proline composition compared to other human proteins at 12.4%. The protein has a negative charged region from residues 141 to 172.[15]
1 MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIRPPRSP 71 EVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDFTHLHEKQGSEELPKEAKGRK 141 DTEKDQVPEPEGQLEEPTLEVVEQASPYSMDDRDPRKFFMSGFTGYVPCARFLFGSSFPVLTNQALQEFG 211 QKHSPGSAQDPKHLPPLPRTYPQNLGLLPNYGGYVPGYKFQFGHTFGHLTHDALGLSTFQKQLLA
Post-translational modifications
FAM166B is predicted to have 12 phosphorylation, 3 sumoylation, and 1 acetylation sites.[16][17][18] FAM166 has no predicted signal peptide sequences.[19]
Structure
FAM166B is predicted to be composed mostly of coils with short interspersed regions of alpha helices and beta sheets.[14] There are no predicted transmembrane domains and this is consistent through orthologs.[20]
Subcellular localization
However, the intracellular location of FAM166B is unknown.[21][22] The average hydrophobicity of the protein is -0.519272, which suggests that it is a soluble protein.[20]
Homology
Orthologs
FAM166B has a number of orthologs in mammals, birds, reptiles, fish, and some invertebrates. The table below lists a number of FAM166B orthologs that were found using BLAST.[23] The table descending exhibits the diversity of species with FAM166B orthologs in descending order of identity.
| Scientific name | Common name | Protein Accession Number | Sequence length (aa) | Identity | Similarity |
|---|---|---|---|---|---|
| Homo Sapiens | Human | NP_001157782.1 | 275 | ||
| Camelus Ferus | Bactrian Camel | XP_006187942.1 | 279 | 83% | 87% |
| Bos Taurus | Domestic Cow | XP_005210130.1 | 303 | 81% | 87% |
| Felis catus | Domestic Cat | XP_003995654.1 | 280 | 81% | 86% |
| Tursiops truncatus | Common Bottlenose Dolphin | XP_004312901.1 | 274 | 80% | 86% |
| Elephantulus edwardii | Cape Elephant Shrew | XP_006887001.1 | 275 | 80% | 86% |
| Mus Musculus | Mouse | XP_006538075.1 | 273 | 75% | 82% |
| Dasypus novemcinctus | Nine-banded armadillo | XP_004457403.1 | 286 | 75% | 82% |
| Equus caballus | Horse | XP_001914783.2 | 300 | 75% | 80% |
| Monodelphis domestica | Gray short-tailed opossum | XP_007498869.1 | 292 | 57% | 68% |
| Chelonia mydas | Green Turtle | XP_007055984.1 | 251 | 47% | 62% |
| Tinamus guttatus | White-throated Tinamu | XP_010220019.1 | 307 | 45% | 55% |
| Python bivittatus | Burmese Python | XP_007427141.1 | 340 | 42% | 56% |
| Xenopus tropicalis | Western Clawed Frog | NP_001106452.1 | 306 | 42% | 55% |
| Anolis carolinesis | Carolina Anole | XP_003228316.1 | 314 | 40% | 53% |
| Danio rerio | Zebrafish | NP_001076489.2 | 299 | 39% | 52% |
| Poecilia formosa | Amazon Molly | XP_007566989.1 | 262 | 34% | 50% |
| Ciona intestinalis | Vase Tunicate | XP_002129379.1 | 330 | 30% | 42% |
| Picoides pubescens | Downy Woodpecker | XP_009895146.1 | 296 | 26% | 41% |
| Hydra vulgaris | Freshwater Polyp | XP_002162128.1 | 282 | 26% | 41% |
| Saccoglossus kowalevskii | Acorn Worm | XP_002739701.1 | 332 | 24% | 41% |
| Stronglyocentrotus purpuratus | Purple Sea Urchin | XP_786484.3 | 333 | 24% | 40% |
Paralogs
FAM166B has one paralog, FAM166A, which spans 317 aa and has a 25% identity.[24] The accession number for FAM166A is NP_001001710.
Clinical significance
Diseases
Currently, FAM166 is not associated within a human disease or condition. Despite being located on Spastic paraplegia 46, a locus on chromosome 9, that is known to cause an autosomal-recessive disease called hereditary spastic paraplegia (HSP), FAM166B was determined not to be the gene responsible for the disease due to its frequency in the population controls.[25]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000215187 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042788 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 "CIMIP2B ciliary microtubule inner protein 2B [ Homo sapiens (human) ]". NCBI Gene.
- ↑ "A8MTA8 · CMI2B_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-24.
- 1 2 Thierry-Mieg D, Thierry-Mieg J. "AceView, NCBI".
- ↑ "NCBI UniGene: FAM166B".
- ↑ "Human Protein Atlas: FAM166B".
- ↑ Gaudet P, Argoud-Puy G, Cusin I, Duek P, Evalet O, Gateau A, et al. (January 2013). "neXtProt: organizing protein knowledge in the context of human proteome projects". Journal of Proteome Research. 12 (1): 293–298. doi:10.1021/pr300830v. PMID 23205526.
- ↑ "Genomatix ElDorado". Archived from the original on 2001-02-24.
- ↑ "NCBI Nucleotide". 30 June 2018.
- ↑ "NCBI Protein: FAM166B". Retrieved 28 Feb 2015.
- 1 2 "Biology Workbench 3.2".
- ↑ Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (March 1992). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences of the United States of America. 89 (6): 2002–2006. Bibcode:1992PNAS...89.2002B. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.
- ↑ "Net Phos 2.0".
- ↑ "NetAcet".
- ↑ "SUMOplot".
- ↑ "SignalP".
- 1 2 "Sosui".
- ↑ "The Human Protein Atlas".
- ↑ "Compartments: FAM166B".
- ↑ "NCBI Blast".
- ↑ "NCBI Protein: FAM166A".
- ↑ Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, et al. (February 2013). "Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia". American Journal of Human Genetics. 92 (2): 238–244. doi:10.1016/j.ajhg.2012.11.021. PMC 3567271. PMID 23332916.