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SH2B1 SH2B adaptor protein 1 [ Homo sapiens (human) ]

Gene ID: 25970, updated on 24-Jul-2021

Summary

Official Symbol
SH2B1provided by HGNC
Official Full Name
SH2B adaptor protein 1provided by HGNC
Primary source
HGNC:HGNC:30417
See related
Ensembl:ENSG00000178188 MIM:608937
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSM; SH2B
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]
Expression
Ubiquitous expression in ovary (RPKM 12.3), spleen (RPKM 12.2) and 25 other tissues See more
Orthologs
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Genomic context

See SH2B1 in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (28846606..28874205)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28857927..28885526)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ataxin 2 like Neighboring gene microRNA 4721 Neighboring gene Tu translation elongation factor, mitochondrial Neighboring gene Sharpr-MPRA regulatory region 4004 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene rabaptin, RAB GTPase binding effector protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-07-13)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2021-07-13)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30542, KIAA1299, DKFZp547G1110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
SH2B adapter protein 1
Names
SH2 domain-containing protein 1B
SH2 domain-containing putative adapter SH2-B
SH2-B signaling protein
pro-rich, PH and SH2 domain-containing signaling mediator

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029706.2 RefSeqGene

    Range
    22158..32614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145795.2NP_001139267.1  SH2B adapter protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001139267.1

    Status: REVIEWED

    Source sequence(s)
    AF227967, AK055104, AK297080, DA490578
    Consensus CDS
    CCDS53996.1
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    A0A024QZD2, B3KNV5, B4DLN5
    Related
    ENSP00000481709.1, ENST00000618521.4
    Conserved Domains (3) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper
  2. NM_001145796.2NP_001139268.1  SH2B adapter protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001139268.1

    Status: REVIEWED

    Source sequence(s)
    AK055104, AK297080, BC010704, DA490578
    Consensus CDS
    CCDS32424.1
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    A0A024QZC2, B3KNV5, B4DLN5
    Conserved Domains (4) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam00169
    Location:312376
    PH; PH domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper
  3. NM_001145797.2NP_001139269.1  SH2B adapter protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001139269.1

    Status: REVIEWED

    Source sequence(s)
    AF227969, AK055104, AK297080, DA490578
    Consensus CDS
    CCDS53997.1
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    A0A024QZ92, B3KNV5, B4DLN5
    Related
    ENSP00000352232.5, ENST00000359285.9
    Conserved Domains (4) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam00169
    Location:312376
    PH; PH domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper
  4. NM_001145812.2NP_001139284.1  SH2B adapter protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001139284.1

    Status: REVIEWED

    Source sequence(s)
    AC133550
    Consensus CDS
    CCDS32424.1
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    A0A024QZC2
    Related
    ENSP00000378903.4, ENST00000395532.8
    Conserved Domains (4) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam00169
    Location:312376
    PH; PH domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper
  5. NM_001308293.2NP_001295222.1  SH2B adapter protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001295222.1

    Status: REVIEWED

    Source sequence(s)
    AC133550, AK055104, BC010704, DA338190
    Consensus CDS
    CCDS53996.1
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    A0A024QZD2, B3KNV5
    Related
    ENSP00000321221.7, ENST00000322610.12
    Conserved Domains (3) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper
  6. NM_001308294.2NP_001295223.1  SH2B adapter protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001295223.1

    Status: REVIEWED

    Source sequence(s)
    AK297080, BC010704
    Consensus CDS
    CCDS76851.1
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    B4DLN5
    Related
    ENSP00000438784.1, ENST00000538342.5
    Conserved Domains (2) summary
    cd10346
    Location:182278
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cl17171
    Location:142
    PH-like; Pleckstrin homology-like domain
  7. NM_001387404.1NP_001374333.1  SH2B adapter protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC133550
    Conserved Domains (3) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper
  8. NM_001387430.1NP_001374359.1  SH2B adapter protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC133550
    Related
    ENSP00000507475.1, ENST00000684370.1
    Conserved Domains (3) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper
  9. NM_015503.3NP_056318.2  SH2B adapter protein 1 isoform 2

    See identical proteins and their annotated locations for NP_056318.2

    Status: REVIEWED

    Source sequence(s)
    AC133550
    Consensus CDS
    CCDS32424.1
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    A0A024QZC2
    Related
    ENSP00000337163.5, ENST00000337120.9
    Conserved Domains (4) summary
    cd10346
    Location:518614
    SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam00169
    Location:312376
    PH; PH domain
    pfam08916
    Location:2681
    Phe_ZIP; Phenylalanine zipper

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    28846606..28874205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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