STEAP3 gene

STEAP3 metalloreductase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

From UniProt:

Endosomal ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Participates in erythroid iron homeostasis by reducing Fe(3+) to Fe(2+). Can also reduce of Cu(2+) to Cu(1+), suggesting that it participates in copper homeostasis. Uses NADP(+) as acceptor. May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression. Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP.

From NCBI Gene:

  • Hypochromic microcytic anemia with iron overload 2

From UniProt:

Anemia, hypochromic microcytic, with iron overload 2 (AHMIO2): A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly. [MIM:615234]

Cytogenetic Location: 2q14.2, which is the long (q) arm of chromosome 2 at position 14.2

Molecular Location: base pairs 119,222,476 to 119,265,652 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q14.2, which is the long (q) arm of chromosome 2 at position 14.2
  • AHMIO2
  • dudlin-2
  • dudulin-2
  • pHyde
  • STMP3
  • TSAP6