1. Gene
  2. STAP2 - signal transducing adaptor family member 2 Gene

STAP2 - signal transducing adaptor family member 2 Gene

Homo sapiens

Also known as BKS

Gene ID: 55620 | Gene type: protein coding

About STAP2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:4,324,043-4,338,827 (from NCBI)

This gene has 10 transcripts (splice variants), 248 orthologues and 1 paralogue. Broad expression in colon (RPKM 37.7), small intestine (RPKM 30.7) and 18 other tissues.

Summary

This gene encodes the substrate of Breast Tumor Kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

STAP2 Products(2)

mRNA Protein Name
NM_001013841.2 NP_001013863.1 signal-transducing adaptor protein 2 isoform 2
NM_017720.3 NP_060190.2 signal-transducing adaptor protein 2 isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16365431 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
Protein Preferred Names Protein Names

signal-transducing adaptor protein 2

BRK substrate

STAP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
STAP2 Q9UGK3 MYD88 Homo sapiens Q99836
Anti Tag CoIP
16365431
Intra
STAP2 Q9UGK3 MYD88 Homo sapiens Q99836
Pull Down
16365431
Intra
STAP2 Q9UGK3 KEAP1 Homo sapiens Q14145
Y2H Prey Pooling
32296183
Intra
STAP2 Q9UGK3 KEAP1 Homo sapiens Q14145
Y2H Array
32296183
Intra
STAP2 Q9UGK3 IKBKB Homo sapiens O14920
Anti Tag CoIP
16365431
Intra
STAP2 Q9UGK3 IKBKB Homo sapiens O14920
Pull Down
16365431
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Trichothiodystrophy 1, Photosensitive

TTD1

Tay Syndrome

Trichothiodystrophy With Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Ttdp

Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

Ichthyosis, Congenital, With Trichothiodystrophy

Pibids Syndrome

Photosensitive Trichothiodystrophy 1

Trichothiodystrophy, Photosensitive

Sulfur-Deficient Brittle Hair Syndrome

Ttd-P

Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

Trichothiodystrophy Photosensitive

Trichothiodystrophy, Type 1

Tricho-Thiodystrophy Disorder

Trichothiodystrophy Syndromes

Amish Brittle Hair Brain Syndrome

Ichthyosis, Congenital, Autosomal Recessive 2

Autosomal Recessive Congenital Ichthyosis 2

ARCI2

Ncie1

Ichthyosiform Erythroderma, Congenital

Collodion Baby, Self-Healing

Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly

Ncie1, Formerly

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly

Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form

Nonbullous Congenital Ichthyosiform Erythroderma 1

Cie

Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form

Iecn1

Non-Bullous Congenital Ichthyosiform Erythroderma Type 1

Self-Healing Collodion Baby

Ichthyosis, Congenital, Autosomal Recessive, Type 2

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Breast Liposarcoma

Liposarcoma Of The Breast

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1

DSMA1

Sianrf

Dhmn6

Spinal Muscular Atrophy With Respiratory Distress 1

HMN6

Severe Infantile Axonal Neuropathy With Respiratory Failure

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Diaphragmatic Spinal Muscular Atrophy

Spinal Muscular Atrophy With Respiratory Distress Type 1

Neuronopathy, Distal Hereditary Motor, Type Vi

Hmn Vi

Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

Distal Spinal Muscular Atrophy 1

Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

Distal Hereditary Motor Neuropathy Type 6

Distal-Hmn Type 6

Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

Spinal Muscular Atrophy, Diaphragmatic

Distal Hereditary Motor Neuronopathy Type Vi

Distal Spinal Muscular Atrophy Type 1

Hmnvi

Spinal Muscular Atrophy With Respiratory Distress

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

Neuronopathy, Distal Hereditary Motor, 6

Dhmn Vi

Distal Hereditary Motor Neuropathy Type Vi

Severe Infantile Axonal Neuronopathy With Respiratory Failure

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Atrophy, Muscular, Spinal, Distal, Type 1

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

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
Rattus norvegicus STAP2 RGD RGD:1566020
Mus musculus STAP2 MGD MGI:2147039
Canis familiaris STAP2 VGNC VGNC:46879
Felis catus STAP2 VGNC VGNC:65749
Macaca mulatta STAP2 VGNC VGNC:78015
Bos taurus STAP2 VGNC VGNC:35359