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HSH2D hematopoietic SH2 domain containing [ Homo sapiens (human) ]

Gene ID: 84941, updated on 7-May-2020

Summary

Official Symbol
HSH2Dprovided by HGNC
Official Full Name
hematopoietic SH2 domain containingprovided by HGNC
Primary source
HGNC:HGNC:24920
See related
Ensembl:ENSG00000196684 MIM:608349
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALX; HSH2
Summary
T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in bone marrow (RPKM 13.9), spleen (RPKM 9.5) and 11 other tissues See more
Orthologs

Genomic context

See HSH2D in Genome Data Viewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (16134028..16158575)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16244838..16269381)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1855 Neighboring gene tropomyosin 4 Neighboring gene RAB8A, member RAS oncogene family Neighboring gene calcium and integrin binding family member 3 Neighboring gene family with sequence similarity 32 member A

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14886

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
T cell activation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of B cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
hematopoietic SH2 domain-containing protein
Names
adaptor in lymphocytes of unknown function X

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001352265.2NP_001339194.1  hematopoietic SH2 domain-containing protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC020911, AY319652, BC025237, BF242893, DA674933
    Conserved Domains (1) summary
    cd09946
    Location:26127
    SH2_HSH2_like; Src homology 2 domain found in hematopoietic SH2 (HSH2) protein
  2. NM_001352266.2NP_001339195.1  hematopoietic SH2 domain-containing protein isoform 4

    Status: VALIDATED

    Source sequence(s)
    AY319652, BC025237, BF242893, DA372906
    Conserved Domains (1) summary
    cl15255
    Location:26127
    SH2; Src homology 2 (SH2) domain
  3. NM_001369808.1NP_001356737.1  hematopoietic SH2 domain-containing protein isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, DA672492, KF495722
    Conserved Domains (1) summary
    cl15255
    Location:18102
    SH2; Src homology 2 (SH2) domain
  4. NM_001369809.1NP_001356738.1  hematopoietic SH2 domain-containing protein isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911
    Conserved Domains (1) summary
    cd09946
    Location:26127
    SH2_HSH2_like; Src homology 2 domain found in hematopoietic SH2 (HSH2) protein
  5. NM_001382417.1NP_001369346.1  hematopoietic SH2 domain-containing protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
  6. NM_032855.3NP_116244.1  hematopoietic SH2 domain-containing protein isoform 1

    See identical proteins and their annotated locations for NP_116244.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC008894, AY319652, BC025237
    Consensus CDS
    CCDS74304.1
    UniProtKB/Swiss-Prot
    Q96JZ2
    Related
    ENSP00000482604.1, ENST00000616645.4
    Conserved Domains (1) summary
    cd09946
    Location:26127
    SH2_HSH2_like; Src homology 2 domain found in hematopoietic SH2 (HSH2) protein

RNA

  1. NR_111903.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites at an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC008894, AK307563, AY319652, BC025237
  2. NR_111904.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) includes an alternate internal exon structure, and the 3'-terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC008894, AK298682, AY319652, BF511682
  3. NR_163150.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
  4. NR_163151.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
  5. NR_163152.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
  6. NR_163153.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
  7. NR_163154.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
  8. NR_163155.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
  9. NR_163156.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008894, AC020911, KF495722
    Related
    ENST00000616070.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    16134028..16158575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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