1. Gene
  2. GSC - goosecoid homeobox Gene

GSC - goosecoid homeobox Gene

Homo sapiens

Also known as SAMS

Gene ID: 145258 | Gene type: protein coding

About GSC

Cytogenetic location: 14q32.13 Genomic coordinates (GRCh38): 14:94,768,223-94,770,113 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues, 50 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 1.7), brain (RPKM 0.2) and 8 other tissues.

Summary

This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]

GSC Products(1)

mRNA Protein Name
NM_173849.3 NP_776248.1 homeobox protein goosecoid

GSC Protein Structure

Homeobox

Homeobox: Homeobox domain (161 - 217)

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

homeobox protein goosecoid

Related Diseases

Diseases Alias
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities

Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome

SAMS

Sams Syndrome

Stature, Short, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities

Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome

Synostosis
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 GSC MGD MGI:95841
Bos taurus GSC VGNC VGNC:29672
Canis familiaris GSC VGNC VGNC:41525
Felis catus GSC VGNC VGNC:104397
Macaca mulatta GSC VGNC VGNC:108303
Rattus norvegicus GSC RGD RGD:631425