SH2D1A |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SH2D1A (HGNC:10820) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SH2 domain containing 1A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- IMD5, LYP
- Alias symbols
- XLP, MTCP1, DSHP, XLPD, EBVS, SAP
- %HI
- 11.82(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.39(Read more about gnomAD pLI score)
- LOEUF
- 0.96(Read more about gnomAD LOEUF score)
- Cytoband
- Xq25
- Genomic Coordinates
-
GRCh37/hg19: chrX:123480413-123507010 NCBI Ensembl UCSC GRCh38/hg38: chrX:124346563-124373160 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002351.5 ENST00000371139.9 (Read more about MANE Select)
- Function
- Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked lymphoproliferative disease due to SH2D1A deficiency Monarch
-
PUBMED:
11049992
Sumegi et al (2000) reported that analysis of 35 families from the X-linked lymphoproliferative disease (XLP) Registry revealed 28 different mutations in 34 families, including large genomic deletions (n = 3), small intragenic deletions (n = 10), splice-site (n = 3), nonsense (n = 3), and missense (n = 9) mutations.
-
PUBMED:
11159547
Arico et al (2001) analyzed 25 patients diagnosed with HPLH for germline mutations in the SH2D1A gene. They identified 4 patients with XLP and carried a mutation in the SH2D1A gene. Two had hemizygous deletions encompassing SH2D1A exon 1 and 2 had nonsense mutations.
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PUBMED:
31144249
Nademi et al (2019) repotted three siblings from a non-consanguineous family of Yemeni origin with hemizygous deletions of exon 2 of the SH2D1A gene. All three patient were diagnosed with XLP but manifested different phenotypes at different ages.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.