SH2B1 - SH2B adaptor protein 1 Gene

Also Known as PSM; SH2B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25970

About SH2B1

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,846,606-28,874,205 (from NCBI)

This gene has 17 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 12.3), spleen (RPKM 12.2) and 25 other tissues.

Summary

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

SH2B1 Products (9)

mRNA Protein Name
NM_001145795.2 NP_001139267.1 SH2B adapter protein 1 isoform 1
NM_001145796.2 NP_001139268.1 SH2B adapter protein 1 isoform 2
NM_001145797.2 NP_001139269.1 SH2B adapter protein 1 isoform 3
NM_001145812.2 NP_001139284.1 SH2B adapter protein 1 isoform 2
NM_001308293.2 NP_001295222.1 SH2B adapter protein 1 isoform 1
NM_001308294.2 NP_001295223.1 SH2B adapter protein 1 isoform 4
NM_001387404.1 NP_001374333.1 SH2B adapter protein 1 isoform 1
NM_001387430.1 NP_001374359.1 SH2B adapter protein 1 isoform 1
NM_015503.3 NP_056318.2 SH2B adapter protein 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
9742218 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within positive regulation of SMAD protein signal transduction IGI
IGI: Inferred from genetic interaction
28334068 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

SH2B1 Protein Structure

Phe_ZIP

Phe_ZIP: Phenylalanine zipper (24 - 81)

PH

PH: PH domain (282 - 376)

SH2

SH2: SH2 domain (527 - 604)

  • 0
  • 200
  • 400
  • 600
  • 756 a.a.
Protein Preferred Names Protein Names

SH2B adapter protein 1

  • SH2 domain-containing protein 1B

SH2B1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SH2B1 Q9NRF2 EGFR Homo sapiens P00533 16273093
Intra
SH2B1 Q9NRF2 INSR Homo sapiens P06213
Y2H
9742218
Intra
SH2B1 Q9NRF2 INSR Homo sapiens P06213 9742218
Cross
SH2B1 Q9NRF2 Stat3 Mus musculus P42227 24396070
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency
Chromosome 16p11.2 Deletion Syndrome
  • Distal 16p11.2 Microdeletion Syndrome

  • 16p11.2 Deletion Syndrome

  • Del(16)(P11.2)

  • Microdeletion 16p11.2

  • Monosomy 16p11.2

  • Autism, Susceptibility To, 14a

  • Auts14a

  • Distal Del(16)(P11.2)

  • Distal Monosomy 16p11.2

Chromosome 16p11.2 Deletion Syndrome, 220-Kb
  • Chromosome 16p11.2 Deletion Syndrome, 220kb

  • Body Mass Index Qtl16

  • Chromosome 16p11.2 Deletion Syndrome, 220 Kb

Chromosome 16p11.2 Deletion Syndrome, 593-Kb
  • Proximal 16p11.2 Microdeletion Syndrome

  • Chromosome 16p11.2 Deletion Syndrome, 593kb

  • Autism Susceptibility 14a

  • Proximal Del(16)(P11.2)

  • Proximal Monosomy 16p11.2

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Leptin Deficiency Or Dysfunction
  • Morbid Obesity

  • Obesity Due To Congenital Leptin Deficiency

  • LEPD

  • Congenital Leptin Deficiency

  • Obesity, Morbid

  • Obesity, Morbid, Due To Leptin Deficiency

  • Severe Obesity

  • Obesity, Morbid, Nonsyndromic 1

  • Leptin Deficiency

  • Obesity, Severe, Due To Leptin Deficiency

  • Leptin

  • Morbid Obesity Due To Leptin Deficiency

  • Obesity Morbid

  • Leptin Dysfunction

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
  • Wagr Syndrome

  • 11p Partial Monosomy Syndrome

  • Chromosome 11p13 Deletion Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

  • 11p Deletion Syndrome

  • Chromosome 11p Deletion Syndrome

  • Wagr Complex

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

  • Deletion 11p13

  • WAGR

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

  • Chromosome 11p Deletion

  • 11p Deletion

  • 11p Monosomy

  • Deletion 11p

  • Monosomy 11p

  • Partial Monosomy 11p

  • Agr Triad

  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

  • Wagr Contiguous Gene Syndrome

  • Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

  • Del(11)(P13)

  • Monosomy 11p13

  • Chromosome 11, Deletion 11p

Sotos Syndrome
  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1

Chromosome 1p36 Deletion Syndrome
  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

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
Macaca mulatta SH2B1 VGNC VGNC:77350
Rattus norvegicus SH2B1 RGD RGD:620132
Felis catus SH2B1 VGNC VGNC:65088
Canis familiaris SH2B1 VGNC VGNC:46109
Bos taurus SH2B1 VGNC VGNC:34555
Mus musculus SH2B1 MGD MGI:1201407
Others SH2B1 NCBI