Protein 4.2

Erythrocyte membrane protein band 4.2
Identifiers
Symbols EPB42; MGC116735; MGC116737; PA; SPH5
External IDs OMIM: 177070 MGI: 95402 HomoloGene: 93 GeneCards: EPB42 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2038 13828
Ensembl ENSG00000166947 ENSMUSG00000023216
UniProt P16452 Q3T9M7
RefSeq (mRNA) NM_000119.2 NM_013513.2
RefSeq (protein) NP_000110.2 NP_038541.1
Location (UCSC) Chr 15:
43.49 – 43.51 Mb		 Chr 2:
120.84 – 120.86 Mb
PubMed search [1] [2]

Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene.[1][2]

Protein 4.2 is a cytoskeleton protein found in red blood cells.

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia.[2]

Contents

References

  1. ^ White RA, Peters LL, Adkison LR, Korsgren C, Cohen CM, Lux SE (Jun 1993). "The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene". Nat Genet 2 (1): 80–83. doi:10.1038/ng0992-80. PMID 1284644. 
  2. ^ a b "Entrez Gene: EPB42 erythrocyte membrane protein band 4.2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2038. 

Further reading

See also

External links

Human
A1, A2, B, C1, G1, G2
I (MYO1A, MYO1B, MYO1C, MYO1D, MYO1E, MYO1F, MYO1G, MYO1H) · II (MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, MYH16) · III (MYO3A, MYO3B) · V (MYO5A, MYO5B, MYO5C) · VI (MYO6) · VII (MYO7A, MYO7B) · IX (MYO9A, MYO9B) · X (MYO10) · XV (MYO15A) · XVIII (MYO18A, MYO18B) · LC (MYL1, MYL2, MYL3, MYL4, MYL5, MYL6, MYL6B, MYL7, MYL9, MYLIP, MYLK, MYLK2, MYLL1)
Other

Tropomodulin (1, 2, 3, 4) · Troponin (T 1 2 3, C 1 2, I 1 2 3) · Tropomyosin (1, 2, 3, 4)

Actinin (1, 2, 3, 4) · Arp2/3 complex · actin depolymerizing factors (Cofilin (1, 2) · Destrin) · Gelsolin · Profilin (1, 2) · Titin
Other
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)

type I/chromosome 17 (10, 12, 13, 14, 15, 16, 17, 19, 20) · chromosome 12 (18) · none (21)

type II/chromosome 12 (1, 2A, 3, 4, 5, 6A, 6B, 7, 8, 9)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
KIF1A, KIF1B, KIF2A, KIF2C, KIF3B, KIF3C, KIF4A, KIF4B, KIF5A, KIF5B, KIF5C, KIF6, KIF7, KIF9, KIF11, KIF12, KIF13A, KIF13B, KIF14, KIF15, KIF16B, KIF17, KIF18A, KIF18B, KIF19, KIF20A, KIF20B, KIF21A, KIF21B, KIF22, KIF23, KIF24, KIF25, KIF26A, KIF26B, KIF27, KIFC1, KIFC2, KIFC3

axonemal: DNAH1, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAH10, DNAH11, DNAH12, DNAH13, DNAH14, DNAH17, DNAI1, DNAI2, DNALI1, DNAL1, DNAL4

cytoplasmic: DYNC1H1, DYNC2H1, DYNC1I1, DYNC1I2, DYNC1LI1, DYNC1LI2, DYNC2LI1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3
Other
Tau protein · Dynactin (DCTN1) · Tubulins (TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8) · Stathmin · Tektin (TEKT1, TEKT2, TEKT3, TEKT4, TEKT5) · Dynamin (DNM1, DNM2, DNM3)
Other
Nonhuman
see also cytoskeletal defects
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)