1. Gene
  2. FRMD3 - FERM domain containing 3 Gene

FRMD3 - FERM domain containing 3 Gene

Homo sapiens

Also known as 4.1O; P410; EPB41LO; EPB41L4O

Gene ID: 257019 | Gene type: protein coding

About FRMD3

Cytogenetic location: 9q21.32 Genomic coordinates (GRCh38): 9:83,242,992-83,585,794 (from NCBI)

This gene has 7 transcripts (splice variants), 228 orthologues and 10 paralogues. Broad expression in heart (RPKM 8.0), kidney (RPKM 5.0) and 20 other tissues.

Summary

The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

FRMD3 Products(6)

mRNA Protein Name
NM_001244959.2 NP_001231888.1 FERM domain-containing protein 3 isoform 2
NM_001244960.2 NP_001231889.1 FERM domain-containing protein 3 isoform 3
NM_001244961.2 NP_001231890.1 FERM domain-containing protein 3 isoform 4
NM_001244962.2 NP_001231891.1 FERM domain-containing protein 3 isoform 5
NM_001375487.1 NP_001362416.1 FERM domain-containing protein 3 isoform 6
NM_174938.6 NP_777598.3 FERM domain-containing protein 3 isoform 1

FRMD3 Protein Structure

FERM_N

FERM_N: FERM N-terminal domain (36 - 113)

FERM_M

FERM_M: FERM central domain (116 - 225)

FERM_C

FERM_C: FERM C-terminal PH-like domain (229 - 314)

FA

FA: FERM adjacent (FA) (322 - 368)

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  • 597 a.a.
Protein Preferred Names Protein Names

FERM domain-containing protein 3

band 4.1-like protein 4

Related Diseases

Diseases Alias
Hypertropia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris FRMD3 VGNC VGNC:40979
Rattus norvegicus FRMD3 RGD RGD:1304802
Mus musculus FRMD3 MGD MGI:2442466
Macaca mulatta FRMD3 VGNC VGNC:72769
Bos taurus FRMD3 VGNC VGNC:29113
Felis catus FRMD3 VGNC VGNC:62359