2. Gene
  3. SH2B1 - SH2B adaptor protein 1 Gene

SH2B1 - SH2B adaptor protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PSM; SH2B

Gene ID: 25970 | Gene type: protein coding

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

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

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12818 SH2B1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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