SOBP - sine oculis binding protein homolog Gene

Also Known as JXC1; MRAMS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55084

About SOBP

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:107,490,117-107,661,306 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in brain (RPKM 6.2), ovary (RPKM 3.5) and 21 other tissues.

Summary

The protein encoded by this gene is a nuclear Zinc Finger Protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]

SOBP Products (1)

mRNA Protein Name
NM_018013.4 NP_060483.3 sine oculis-binding protein homolog
Biological Process GO Annotation Evidence References Source
involved in cognition IMP
IMP: Inferred from mutant phenotype
21035105 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOBP Protein Structure

SOBP

SOBP: Sine oculis-binding protein (224 - 543)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 873 a.a.
Protein Preferred Names Protein Names

sine oculis-binding protein homolog

  • jackson circler protein 1

Related Diseases

Diseases Alias
Mental Retardation, Anterior Maxillary Protrusion, And Strabismus
  • Intellectual Disability, Anterior Maxillary Protrusion, And Strabismus

  • MRAMS

  • Anterior Maxillary Protrusion-Strabismus-Intellectual Disability Syndrome

  • Mrams Syndrome

Deafness, Autosomal Recessive 62
  • DFNB62

  • Autosomal Recessive Nonsyndromic Deafness 62

  • Autosomal Recessive Deafness 62

Esotropia
  • Convergence In Manifest Squint

  • Crossed Eyes

  • Internal Strabismus

  • Convergent Concomitant Strabismus

  • Convergent Squint

  • Convergent Strabismus

  • Cross-Eye

Amblyopia
  • Lazy Eye

Spermatocytoma
  • Spermatocytic Seminoma

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Branchiootorenal Syndrome
  • Branchio-Oto-Renal Syndrome

  • Bor Syndrome

  • Branchiootorenal Dysplasia

  • Melnick-Fraser Syndrome

  • Branchiootorenal Spectrum Disorders

  • Branchio-Otorenal Dysplasia

  • Branchio Oto Renal Syndrome

  • Branchiootorenal/Branchiootic Syndrome

  • Bo Syndrome

  • Bor

  • Bos

  • Branchio-Otorenal Syndrome

  • Branchiootic Syndrome

  • Branchiootorenal Syndrome

  • Branchiootic Syndrome 1

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 SOBP VGNC VGNC:49867
Mus musculus SOBP MGD MGI:1924427
Rattus norvegicus SOBP RGD RGD:1560479
Macaca mulatta SOBP VGNC VGNC:77790
Bos taurus SOBP VGNC VGNC:35118
Felis catus SOBP VGNC VGNC:102522