FOCAD - focadhesin Gene

Also Known as SCOLIV; KIAA1797

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54914

About FOCAD

Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:20,655,625-20,995,950 (from NCBI)

This gene has 16 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in thyroid (RPKM 11.9), adrenal (RPKM 7.1) and 25 other tissues.

Summary

Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]

FOCAD Products (4)

mRNA Protein Name
NM_001375567.1 NP_001362496.1 focadhesin isoform 1
NM_001375568.1 NP_001362497.1 focadhesin isoform 2
NM_001375570.1 NP_001362499.1 focadhesin isoform 3
NM_017794.5 NP_060264.4 focadhesin isoform 1

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22427331 GOA
Cellular Component GO Annotation Evidence References Source
located in focal adhesion IDA
IDA: Inferred from direct assay
22427331 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

FOCAD Protein Structure

DUF3730

DUF3730: Protein of unknown function (DUF3730) (24 - 250)

DUF3730

DUF3730: Protein of unknown function (DUF3730) (489 - 709)

Focadhesin

Focadhesin: Focadhesin (1213 - 1801)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1801 a.a.
Protein Preferred Names Protein Names

focadhesin

Related Diseases

Diseases Alias
Liver Disease, Severe Congenital

  • SCOLIV

  • Focad Deficiency
Immunodeficiency 30

  • Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency

  • IMD30

  • Il12rb1 Deficiency

  • Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency

  • Msmd Due To Complete Il12rb1 Deficiency

  • Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency

  • Il-12râ1 Deficiency

  • Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency

  • Immunodeficiency, Type 30
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-169090 TS-002902 Inhibitor 98.29% Unkown
HY-183115 TNG961 98.92% Unkown
HY-183115A (Rac)-TNG961 / Unkown
HY-RS05027 FOCAD Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta FOCAD VGNC VGNC:72556
Rattus norvegicus FOCAD RGD RGD:1311849
Mus musculus FOCAD MGD MGI:2676921
Bos taurus FOCAD VGNC VGNC:29071
Canis familiaris FOCAD VGNC VGNC:40938
Felis catus FOCAD VGNC VGNC:62328
Others FOCAD NCBI