1. Gene
  2. FHL3 - four and a half LIM domains 3 Gene

FHL3 - four and a half LIM domains 3 Gene

Homo sapiens

Also known as SLIM2

Gene ID: 2275 | Gene type: protein coding

About FHL3

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:37,996,770-38,005,514 (from NCBI)

This gene has 5 transcripts (splice variants), 285 orthologues and 2 paralogues. Ubiquitous expression in esophagus (RPKM 21.3), endometrium (RPKM 16.8) and 25 other tissues.

Summary

The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the Cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

FHL3 Products(2)

mRNA Protein Name
NM_001243878.2 NP_001230807.1 four and a half LIM domains protein 3 isoform 2
NM_004468.5 NP_004459.2 four and a half LIM domains protein 3 isoform 1

FHL3 Protein Structure

LIM

LIM: LIM domain (40 - 97)

LIM

LIM: LIM domain (101 - 158)

LIM

LIM: LIM domain (162 - 216)

LIM

LIM: LIM domain (221 - 276)

  • 0
  • 100
  • 200
  • 280 a.a.
Protein Preferred Names Protein Names

four and a half LIM domains protein 3

FHL-3

Related Diseases

Diseases Alias
Holoprosencephaly 9

Pituitary Anomalies With Holoprosencephaly-Like Features

HPE9

Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies

Holoprosencephaly-9

Holoprosencephaly, Type 9

Glycogen Storage Disease Vii

Glycogen Storage Disease Type Vii

Muscle Phosphofructokinase Deficiency

Tarui Disease

GSD7

Pfkm Deficiency

Gsd Vii

Glycogen Storage Disease, Type Vii

Glycogen Storage Disease Type 7

Phosphofructokinase Deficiency

Glycogenosis Type Vii

Phosphofructokinase Myopathy

Glycogenosis 7

Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency

Gsd Due To Muscle Phosphofructokinase Deficiency

Gsd Type 7

Gsd Type Vii

Glycogenosis Due To Muscle Phosphofructokinase Deficiency

Glycogenosis Type 7

Glycogen Storage Disease 7

Gsd-Vii

Storage Disease, Glycogen, Type Vii

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
Mus musculus FHL3 MGD MGI:1341092
Felis catus FHL3 VGNC VGNC:62266
Macaca mulatta FHL3 VGNC VGNC:72662
Bos taurus FHL3 VGNC VGNC:29001
Canis familiaris FHL3 VGNC VGNC:40873
Rattus norvegicus FHL3 RGD RGD:1307180
Others FHL3 NCBI