SH2D2A

Summary

SH2D2A (SH2 domain containing 2A, HGNC:10821) is a protein-coding gene on chromosome 1q23.1, encoding SH2 domain-containing protein 2A (Q9NP31). Could be a T-cell-specific adapter protein involved in the control of T-cell activation.

This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9047 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 62 total
• Druggable target: yes
• MANE Select transcript: NM_003975

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10821
Approved symbol	SH2D2A
Name	SH2 domain containing 2A
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Aliases	TSAd, F2771
Ensembl gene	ENSG00000027869
Ensembl biotype	protein_coding
OMIM	604514
Entrez	9047

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000368198, ENST00000368199, ENST00000392306, ENST00000468744, ENST00000486350, ENST00000495306, ENST00000874629, ENST00000874630, ENST00000874631, ENST00000874632, ENST00000874633, ENST00000874634, ENST00000874635, ENST00000874636, ENST00000957671

RefSeq mRNA: 5 — MANE Select: NM_003975 NM_001161441, NM_001161442, NM_001161443, NM_001161444, NM_003975

CCDS: CCDS1159, CCDS53380, CCDS53381

Canonical transcript exons

ENST00000368199 — 9 exons

Exon	Start	End
ENSE00000788787	156815037	156815221
ENSE00000959235	156807175	156807345
ENSE00001943185	156816675	156816848
ENSE00003483495	156816006	156816094
ENSE00003486691	156814205	156814294
ENSE00003494389	156809661	156809807
ENSE00003496541	156813848	156814016
ENSE00003575174	156809203	156809490
ENSE00004035078	156806243	156806573

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 94.69.

FANTOM5 (CAGE): breadth broad, TPM avg 10.7223 / max 410.8825, expressed in 893 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15234	6.3249	404
15226	2.2507	553
15235	0.7996	209
15223	0.6662	248
15224	0.1378	61
15233	0.1358	72
15225	0.1192	53
15230	0.1007	22
15222	0.0729	27
15227	0.0422	13

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	94.69	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.20	gold quality
blood	UBERON:0000178	84.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.42	gold quality
spleen	UBERON:0002106	81.17	gold quality
vermiform appendix	UBERON:0001154	79.77	gold quality
colonic epithelium	UBERON:0000397	75.98	gold quality
lymph node	UBERON:0000029	75.90	gold quality
omental fat pad	UBERON:0010414	75.65	gold quality
peritoneum	UBERON:0002358	75.56	gold quality
caecum	UBERON:0001153	74.76	gold quality
adipose tissue of abdominal region	UBERON:0007808	74.49	gold quality
apex of heart	UBERON:0002098	73.96	gold quality
upper lobe of left lung	UBERON:0008952	73.96	gold quality
small intestine Peyer’s patch	UBERON:0003454	73.81	gold quality
mucosa of transverse colon	UBERON:0004991	73.25	gold quality
gall bladder	UBERON:0002110	73.10	gold quality
right lung	UBERON:0002167	72.92	gold quality
bone marrow cell	CL:0002092	72.83	gold quality
mucosa of urinary bladder	UBERON:0001259	71.75	gold quality
small intestine	UBERON:0002108	71.69	gold quality
upper lobe of lung	UBERON:0008948	71.10	gold quality
thymus	UBERON:0002370	71.06	silver quality
left uterine tube	UBERON:0001303	70.77	gold quality
right atrium auricular region	UBERON:0006631	69.96	gold quality
right lobe of liver	UBERON:0001114	69.88	gold quality
cervix squamous epithelium	UBERON:0006922	69.74	gold quality
transverse colon	UBERON:0001157	69.29	gold quality
muscle layer of sigmoid colon	UBERON:0035805	69.13	gold quality
body of stomach	UBERON:0001161	69.06	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	43.46
E-MTAB-6678	yes	25.66
E-ANND-3	yes	12.22
E-CURD-112	yes	3.85
E-GEOD-106540	no	440.20
E-MTAB-6379	no	73.10
E-CURD-120	no	6.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting SH2D2A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-3168	99.08	67.75	1384
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-26B-3P	98.71	67.49	1102
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-1199-5P	98.44	66.51	829
HSA-MIR-6751-3P	98.44	66.35	835
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-6511A-3P	97.60	66.61	713
HSA-MIR-6511B-3P	97.60	66.61	713
HSA-MIR-450B-3P	97.56	66.12	512
HSA-MIR-769-3P	97.06	64.83	464
HSA-MIR-6726-5P	95.97	63.72	841
HSA-MIR-920	95.97	63.95	811
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002

Literature-anchored findings (GeneRIF, showing 17)

• ‘short’ alleles of the promoter could contribute to the genetic susceptibility to Juvenile Rheumatoid Arthritis (PMID:15129233)
• TSAd appears to contribute to interleukin-2 synthesis at multiple different levels (PMID:15752554)
• upon chemokine stimulation, Lad acts as an adaptor protein that links the G protein beta subunit to the tyrosine kinases Lck and Zap-70, thereby mediating T-cell migration (PMID:17327418)
• SH2D2A expression is regulated both at the transcriptional and translational level. (PMID:18160104)
• This study found a significant association between CIDP and the genotype GA13-16 homozygote (OR 3.167; p 0.013). (PMID:18533279)
• lymphocyte-specific protein tyrosine kinase binds to T cell-specific adapter protein (TSAd) prolines and phosphorylates and interacts with the three C-terminal TSAd tyrosines (PMID:18541536)
• the present study shows that the SH2D2A gene may contribute to susceptibility to MS. (PMID:18554728)
• TSAd associates with laminin binding protein and mediates T lymphocyte migration during T cell activation (PMID:19561400)
• TSAd, through its interaction with both Itk and Lck, primes Itk for Lck mediated phosphorylation and thereby regulates CXCL12 induced T cell migration and actin cytoskeleton rearrangements (PMID:20305788)
• in chronic inflammatory demyelinating polyneuropathy we found an association with a homozygous genotype for a low repeat number of tandem GA in the SH2D2A gene (PMID:21696499)
• Data indicate the expression pattern of T cell-specific adapter protein (TSAd) in various healthy lymphoid and non-lymphoid tissues. (PMID:24910151)
• The kinase Itk and the adaptor TSAd change the specificity of the kinase Lck in T cells by promoting the phosphorylation of Tyr192. (PMID:25492967)
• TSAD binds to and co-localizes with Nck. Expression of TSAD increases both Nck-Lck and Nck-SLP-76 interaction in T cells. (PMID:26163016)
• Data indicate that the T cell-specific adaptor protein (TSAd) SH2 domain interacts with CD6 antigen and linker for activation of T cells protein (LAT) phosphotyrosine (pTyr) peptides. (PMID:27896837)
• The ITK SH3 and LCK SH3 domains can both competefor and simultaneously bind to adjacent binding sites on TSAD encompassing aa 242-268. (PMID:31484725)
• TSAd Plays a Major Role in Myo9b-Mediated Suppression of Malignant Pleural Effusion by Regulating TH1/TH17 Cell Response. (PMID:33046503)
• Downregulation of lncRNA XIST may promote Th17 differentiation through KDM6A-TSAd pathway in neuromyelitis optica spectrum disorders. (PMID:37315471)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sh2d2a	ENSMUSG00000028071
rattus_norvegicus	Sh2d2a	ENSRNOG00000013294
caenorhabditis_elegans		WBGENE00008733

Paralogs (4): SH2D4A (ENSG00000104611), SH2D4B (ENSG00000178217), SH2D7 (ENSG00000183476), HSH2D (ENSG00000196684)

Protein

Protein identifiers

SH2 domain-containing protein 2A — Q9NP31 (reviewed: Q9NP31)

Alternative names: SH2 domain-containing adapter protein, T cell-specific adapter protein, VEGF receptor-associated protein

All UniProt accessions (1): Q9NP31

UniProt curated annotations — full annotation on UniProt →

Function. Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56-LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation.

Subunit / interactions. Interacts with KDR. Interacts with TXK and ITK.

Subcellular location. Cytoplasm.

Tissue specificity. Expression limited to tissues of the immune system and, in particular, activated T-cells. Expressed in peripheral blood leukocytes, thymus and spleen. Much lower expression or undetectable, in brain, placenta, skeletal muscle, prostate, testis, ovary, small intestine, and colon. Expressed at low levels in unstimulated T-cells, but not expressed in normal resting or activated B-cells. According to PubMed:10692392, expression is not restricted to activated T-cells, but strongly expressed in blood cell lineages, the endothelium and other cell and tissue types, such as heart, lung, and liver.

Post-translational modifications. Phosphorylated on tyrosine residues.

Induction. Rapidly induced after activation of T-cells. However, the gene continues to be expressed in long-term cultures of activated T-cells.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9NP31-1	2	yes
Q9NP31-2	1
Q9NP31-3	3
Q9NP31-4	4

RefSeq proteins (5): NP_001154913, NP_001154914, NP_001154915, NP_001154916, NP_003966* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000980	SH2	Domain
IPR035884	SH2D2A_SH2	Domain
IPR036860	SH2_dom_sf	Homologous_superfamily

Pfam: PF00017

UniProt features (21 total): compositionally biased region 4, splice variant 3, sequence conflict 3, region of interest 3, modified residue 2, sequence variant 2, short sequence motif 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP31-F1	61.87	0.30

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 217, 296

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-4420097	VEGFA-VEGFR2 Pathway
R-HSA-162582	Signal Transduction
R-HSA-194138	Signaling by VEGF
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases

MSigDB gene sets: 200 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, TGACCTY_ERR1_Q2, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, AMIT_EGF_RESPONSE_480_MCF10A, GOBP_BLOOD_VESSEL_MORPHOGENESIS, E4F1_Q6, STONER_ESOPHAGEAL_CARCINOGENESIS_UP, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, RYTTCCTG_ETS2_B, CREB_Q3, NERF_Q2, ATF_01, PID_ERBB1_DOWNSTREAM_PATHWAY, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, TGGAAA_NFAT_Q4_01

GO Biological Process (4): angiogenesis (GO:0001525), signal transduction (GO:0007165), cell differentiation (GO:0030154), T cell proliferation (GO:0042098)

GO Molecular Function (2): SH3 domain binding (GO:0017124), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Signaling by VEGF	1
Signaling by Receptor Tyrosine Kinases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular developmental process	1
T cell activation	1
lymphocyte proliferation	1
protein domain specific binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

596 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SH2D2A	SRC	P12931	925
SH2D2A	LCK	P06239	888
SH2D2A	KDR	P35968	885
SH2D2A	ITK	Q08881	771
SH2D2A	SHB	Q15464	691
SH2D2A	NCK1	P16333	629
SH2D2A	RAD54B	Q9Y620	622
SH2D2A	TXK	P42681	602
SH2D2A	DCAF12L1	Q5VU92	573
SH2D2A	ZAP70	P43403	568
SH2D2A	PLCG1	P19174	559
SH2D2A	VCP	P55072	532
SH2D2A	PIK3R3	Q92569	479
SH2D2A	CD8A	P01732	465
SH2D2A	OSGEPL1	Q9H4B0	446
SH2D2A	RPSA	P08865	446

IntAct

118 interactions, top by confidence:

A	B	Type	Score
SH2D2A	LCK	psi-mi:“MI:0915”(physical association)	0.770
LCK	SH2D2A	psi-mi:“MI:0915”(physical association)	0.770
PTK2	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
TENT5B	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
SH2D2A	ASB3	psi-mi:“MI:0915”(physical association)	0.570
SH2D2A	PLEKHB1	psi-mi:“MI:0915”(physical association)	0.570
TENT5A	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
SH2D2A	PIK3R3	psi-mi:“MI:0915”(physical association)	0.570
DCAF12L1	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
PIK3R1	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
FSBP	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
SH2D2A	PTK2	psi-mi:“MI:0915”(physical association)	0.570
ASB3	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
SH2D2A	PIK3R1	psi-mi:“MI:0915”(physical association)	0.570
SH2D2A	TENT5A	psi-mi:“MI:0915”(physical association)	0.570

BioGRID (71): SH2D2A (Two-hybrid), KDM1B (Affinity Capture-MS), PEAK1 (Affinity Capture-MS), SH2D2A (Two-hybrid), ASB3 (Two-hybrid), FAM46A (Two-hybrid), FAM46B (Two-hybrid), PPP1R21 (Two-hybrid), LNX1 (Two-hybrid), LRRFIP1 (Two-hybrid), PLEKHB1 (Two-hybrid), RAD54B (Two-hybrid), DCAF12L1 (Two-hybrid), ZHX3 (Two-hybrid), ZSCAN1 (Two-hybrid)

ESM2 similar proteins: A3R064, A7MBB8, B2RYG7, D3ZZN9, E1BDF2, O60496, O70469, O94989, O95153, P97465, P97680, P98077, Q13671, Q14B98, Q1RMU7, Q3MIN7, Q3UR97, Q3UYI5, Q494U1, Q4QQV2, Q58EX7, Q5EA84, Q5FWH6, Q6ICB4, Q6PGG2, Q6ZW31, Q7L591, Q7TNF8, Q8BH49, Q8BWA8, Q8IW93, Q8IYJ3, Q8N878, Q8NAG6, Q8NFA2, Q91WA6, Q921Q7, Q92502, Q969H4, Q969T3

Diamond homologs: A6NKC9, A6X942, G5ECJ6, O08908, O88834, P03949, P46109, P47941, Q00655, Q08012, Q08CX2, Q56A36, Q5SQS7, Q5U2U2, Q6AYC8, Q6VYH9, Q6YKA8, Q8BI17, Q8UUU2, Q96JZ2, Q9D7V1, Q9H788, Q9NP31, Q9QXK9, P00519, P00520, P00521, P10447, P20936, P29353, P32577, P41239, P41240, P41241, P42684, P50904, P98083, Q03160, Q0IIE2, Q0VBZ0

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
LCK	“up-regulates activity”	SH2D2A	phosphorylation
DSCAM	“up-regulates activity”	SH2D2A	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	6	107.4×	1e-09
Regulation of signaling by CBL	5	85.6×	2e-07
GPVI-mediated activation cascade	5	53.2×	2e-06
Signaling by SCF-KIT	6	51.4×	1e-07
Constitutive Signaling by Aberrant PI3K in Cancer	10	43.8×	4e-12
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	10	33.4×	4e-11
Extra-nuclear estrogen signaling	5	29.4×	2e-05
PIP3 activates AKT signaling	10	23.0×	1e-09

GO biological processes:

GO term	Partners	Fold	FDR
epidermal growth factor receptor signaling pathway	5	31.8×	2e-04
phosphatidylinositol 3-kinase/protein kinase B signal transduction	5	27.0×	2e-04
positive regulation of tumor necrosis factor production	5	19.6×	5e-04
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	6	12.1×	7e-04
adaptive immune response	5	10.8×	3e-03
intracellular signal transduction	11	10.8×	2e-06
positive regulation of MAPK cascade	5	10.3×	4e-03
positive regulation of cell migration	5	7.9×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

62 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1541 predictions. Top by Δscore:

Variant	Effect	Δscore
1:156813842:GCGTA:G	donor_loss	1.0000
1:156813843:CGTAC:C	donor_loss	1.0000
1:156813844:GTAC:G	donor_loss	1.0000
1:156813845:TA:T	donor_loss	1.0000
1:156813846:A:C	donor_loss	1.0000
1:156815032:CTCA:C	donor_loss	1.0000
1:156815033:TCA:T	donor_loss	1.0000
1:156815034:CA:C	donor_loss	1.0000
1:156815035:A:AC	donor_gain	1.0000
1:156815035:ACCT:A	donor_gain	1.0000
1:156815036:C:CC	donor_gain	1.0000
1:156815036:C:CG	donor_loss	1.0000
1:156815036:CCT:C	donor_gain	1.0000
1:156815036:CCTC:C	donor_gain	1.0000
1:156815228:C:CT	acceptor_gain	1.0000
1:156815229:A:T	acceptor_gain	1.0000
1:156816001:CTCA:C	donor_loss	1.0000
1:156816002:TCA:T	donor_loss	1.0000
1:156816003:CA:C	donor_loss	1.0000
1:156816005:CCG:C	donor_gain	1.0000
1:156816091:CTCC:C	acceptor_gain	1.0000
1:156809662:T:TA	donor_gain	0.9900
1:156813847:CCTGT:C	donor_gain	0.9900
1:156814071:A:T	acceptor_gain	0.9900
1:156814199:CCTCA:C	donor_loss	0.9900
1:156814200:CTCAC:C	donor_loss	0.9900
1:156814201:TCAC:T	donor_loss	0.9900
1:156814202:CA:C	donor_loss	0.9900
1:156814203:A:C	donor_loss	0.9900
1:156814291:CTCC:C	acceptor_gain	0.9900

AlphaMissense

2517 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:156813992:G:C	F141L	0.994
1:156813992:G:T	F141L	0.994
1:156813994:A:G	F141L	0.994
1:156815062:A:G	W95R	0.994
1:156815062:A:T	W95R	0.994
1:156814241:A:G	F121S	0.993
1:156814290:C:G	A105P	0.993
1:156815058:A:G	F96S	0.993
1:156813993:A:G	F141S	0.991
1:156814219:G:C	F128L	0.991
1:156814219:G:T	F128L	0.991
1:156814221:A:G	F128L	0.991
1:156814237:G:C	S122R	0.991
1:156814237:G:T	S122R	0.991
1:156814239:T:G	S122R	0.991
1:156814254:A:C	Y117D	0.991
1:156809338:G:C	F289L	0.990
1:156809338:G:T	F289L	0.990
1:156809340:A:G	F289L	0.990
1:156814209:A:C	Y132D	0.990
1:156813870:A:T	L182H	0.989
1:156813995:G:C	H140Q	0.989
1:156813995:G:T	H140Q	0.989
1:156814214:A:G	L130P	0.989
1:156815052:C:T	G98D	0.989
1:156815053:C:G	G98R	0.989
1:156813918:A:G	L166P	0.987
1:156814250:A:G	L118S	0.987
1:156815048:G:C	F99L	0.987
1:156815048:G:T	F99L	0.987

dbSNP variants (sampled 300 via entrez): RS1000046183 (1:156807746 T>G), RS1000092368 (1:156806824 T>C), RS1000144306 (1:156807028 A>C), RS1000441554 (1:156806560 G>T), RS1000548061 (1:156817918 C>A,T), RS1000662116 (1:156814467 C>T), RS1000718310 (1:156811696 C>T), RS1000772244 (1:156811424 C>G,T), RS1001142358 (1:156809131 C>A,G,T), RS1001665611 (1:156818490 C>G,T), RS1001891108 (1:156812278 T>C), RS1002240089 (1:156812556 A>C), RS1002311597 (1:156816789 C>A), RS1002553465 (1:156815437 G>A), RS1002729649 (1:156808909 C>T)

Disease associations

OMIM: gene MIM:604514 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): Charcot-Marie-Tooth disease type 2 (MONDO:0018993)

Orphanet (1): Autosomal dominant Charcot-Marie-Tooth disease type 2 (Orphanet:64746)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004061_1	Sjögren’s syndrome	2.000000e-06
GCST004603_170	Platelet count	2.000000e-10
GCST010571_7	Autoimmune thyroid disease	1.000000e-11
GCST90002400_525	Plateletcrit	1.000000e-18
GCST90002402_496	Platelet count	2.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3217401 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	3
Cisplatin	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, increases expression	2
Nickel	increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
bufotalin	decreases expression	1
lead acetate	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
cupric chloride	increases expression	1
diallyl trisulfide	increases expression	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases expression	1
beta-hydroxy simvastatin acid	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Benzene	increases expression	1
Carbamazepine	affects expression	1
Dactinomycin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylnitrosamine	increases expression	1
Dust	decreases expression	1
Folic Acid	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Methotrexate	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3223238	Binding	Binding affinity to GST-tagged TSAD SH2 domain (unknown origin) up to 20 uM by fluorescence anisotropic assay	Inhibition of Ras-Effector Interaction by Cyclic Peptides. — Medchemcomm

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease