CD5

Summary

CD5 (CD5 molecule, HGNC:1685) is a protein-coding gene on chromosome 11q12.2, encoding T-cell surface glycoprotein CD5 (P06127). Lymphoid-specific receptor expressed by all T-cells and in a subset of B-cells known as B1a cells.

This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. This protein is a type-I transmembrane glycoprotein found on the surface of thymocytes, T lymphocytes and a subset of B lymphocytes. The encoded protein contains three SRCR domains and may act as a receptor to regulate T-cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 921 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 72 total
• Druggable target: yes
• MANE Select transcript: NM_014207

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1685
Approved symbol	CD5
Name	CD5 molecule
Location	11q12.2
Locus type	gene with protein product
Status	Approved
Aliases	T1
Ensembl gene	ENSG00000110448
Ensembl biotype	protein_coding
OMIM	153340
Entrez	921

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000347785, ENST00000544014, ENST00000897878

RefSeq mRNA: 2 — MANE Select: NM_014207 NM_001346456, NM_014207

CCDS: CCDS8000

Canonical transcript exons

ENST00000347785 — 11 exons

Exon	Start	End
ENSE00000721687	61123884	61123937
ENSE00001119061	61118915	61118977
ENSE00001119062	61119234	61119575
ENSE00001145383	61122907	61123032
ENSE00001145387	61121611	61121904
ENSE00001145399	61118175	61118480
ENSE00001145405	61102489	61102615
ENSE00001145421	61115056	61115094
ENSE00001198934	61125032	61125151
ENSE00001198984	61125751	61125841
ENSE00001397719	61126288	61127852

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 93.15.

FANTOM5 (CAGE): breadth broad, TPM avg 14.3192 / max 942.2733, expressed in 220 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114545	13.8388	217
114546	0.4804	87

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	93.15	gold quality
lymph node	UBERON:0000029	88.68	gold quality
blood	UBERON:0000178	85.79	gold quality
vermiform appendix	UBERON:0001154	84.37	gold quality
caecum	UBERON:0001153	82.92	gold quality
tonsil	UBERON:0002372	79.59	gold quality
epithelium of nasopharynx	UBERON:0001951	79.25	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.92	gold quality
tongue squamous epithelium	UBERON:0006919	78.09	gold quality
spleen	UBERON:0002106	77.40	gold quality
mucosa of urinary bladder	UBERON:0001259	77.27	gold quality
bone marrow cell	CL:0002092	76.99	gold quality
diaphragm	UBERON:0001103	76.98	gold quality
cerebellar vermis	UBERON:0004720	76.59	gold quality
bone marrow	UBERON:0002371	75.81	gold quality
gall bladder	UBERON:0002110	75.03	gold quality
thymus	UBERON:0002370	74.73	silver quality
gingival epithelium	UBERON:0001949	74.50	gold quality
ileal mucosa	UBERON:0000331	74.34	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	74.20	gold quality
vena cava	UBERON:0004087	74.18	gold quality
cardia of stomach	UBERON:0001162	74.16	gold quality
saphenous vein	UBERON:0007318	73.68	gold quality
tongue	UBERON:0001723	73.50	silver quality
nipple	UBERON:0002030	73.49	gold quality
superficial temporal artery	UBERON:0001614	73.41	gold quality
subthalamic nucleus	UBERON:0001906	73.37	gold quality
ventral tegmental area	UBERON:0002691	73.26	gold quality
body of tongue	UBERON:0011876	73.25	gold quality
superior surface of tongue	UBERON:0007371	73.23	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-70580	yes	361.46
E-CURD-122	yes	41.49
E-ANND-3	yes	9.81

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ETS1, GATA3, GLI3, MYC, NFATC1, TCF3, TFAP2A

miRNA regulators (miRDB)

36 targeting CD5, 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-6825-5P	99.96	69.81	3431
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-6715B-3P	98.80	68.07	1204
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-4436A	98.05	64.83	1140
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-625-3P	97.32	66.55	554
HSA-MIR-197-5P	97.23	68.10	596
HSA-MIR-1306-5P	97.11	64.04	755

Literature-anchored findings (GeneRIF, showing 40)

• CD5-negative regulation of B cell receptor signaling originates from tyrosine residue Y429 outside an immunoreceptor tyrosine-based inhibitory motif (PMID:11751967)
• Origins and functions of B-1 cells with notes on the role of CD5. Review. (PMID:11861604)
• multiple somatic mutations in human cancers. the value of the CD5 microsatellite as a marker for instability in different tumor types, particularly in B-cell leukemia and lymphoma. (PMID:11869933)
• CD5 supports the survival of B cells by stimulating IL-10 production and by concurrently exerting negative feedback on BCR-induced signaling events that can promote cell death. (PMID:12393419)
• CD5-negative, CD10-negative small B-cell leukemia: variant of chronic lymphocytic leukemia or a distinct entity (PMID:12447961)
• CD5 is rapidly recruited at the immunological synapse (IS) and lowers the T cell response elicited by antigen presentation by targeting downstream signaling events without affecting IS formation. (PMID:12707340)
• The CD5+ diffuse large-B-cell lymphoma (DLBCL) constitutes a disease category distinct from that of CD5- DLBCL and other CD5+ malignancies. (PMID:14603444)
• the 5’-flanking region of human CD5 is transcriptionally active in T cells, and Ets transcription factors in conjunction with other regulatory elements are responsible for constitutive and tissue-specific CD5 expression (PMID:15187131)
• Overexpression in these cells indicates diseaase progression in B=cell leukemia patients. (PMID:15549146)
• CD5 is associated with receptor revision in activated mature B cells and likely to promote expression of suitable immunoglobulin gene receptors capable of initiating the germinal center reaction. (PMID:15843554)
• The polymorphic CD5 promoter is associated with increased susceptibility to B-cell chronic lymphocytic leukemia and mantle cell lymphoma. (PMID:15981803)
• balance between the 2 alternative exons 1 might be central to the regulation of membrane CD5 in human B cells (PMID:15998834)
• analysis of CD5-positive diffuse large B-cell lymphoma with the unusual phenotype of cytoplasmic CD20 (+), surface CD20 (-) [case report] (PMID:16923582)
• CD5 does not inhibit properly the BCR-mediated signaling in leukemic cells. (PMID:17325858)
• T lymphocyte activation-induced cell death (AICD) in response to a cognate tumor is inversely proportional to the surface expression level of CD5. (PMID:17513730)
• a decrease in CD22(+) B cells and increase in CD5(+)CD22(-) B cells play critical roles in the pathogenesis of RA mediated by the activation of B cells (PMID:17585360)
• support a model where chronic lymphocytic leukemia cells are chronically stimulated, leading to CD5 activation and cell survival (PMID:17878328)
• 3D solution structure of a non-glycosylated double mutant of the N-terminal domain of human CD5 was presented. (PMID:18339402)
• CD5 positive diffuse large B-cell lymphoma frequently express BCL2 protein and show that it is mainly included in the non-germinal center B-cell type of this cancer. (PMID:18556402)
• Report CD5-undetected by immunohistochemistry in a t(11;14)(q13;q32)-positive conjunctival mantle cell lymphoma. (case report) (PMID:18572329)
• diminishes the threshold of the response by cells expressing CD5 (PMID:18641338)
• present results indicate that the CD5 lymphocyte receptor may sense the presence of conserved fungal components [namely, (1–>3)-beta-d-glucans] and support the therapeutic potential of soluble CD5 forms in fungal sepsis (PMID:19141631)
• Data indicate that E1B-CD5-expressing B cells have the capacity to interfere with the immune response through their ability to produce high levels of IL-10. (PMID:19758163)
• Type B3 thymic epithelial tumor in an adolescent detected by immunohistochemical staining for CD5, CD99, and KIT (CD117): a case report. (PMID:19901887)
• CD5-positive splenic marginal zone lymphoma may be related to memory B-cell neoplasm or plasma cell differentiation (PMID:21123968)
• full-length protein variant, encoded by E1A-cd5, translocates the phosphatase SHP-1 to the vicinity of the B-cell receptor, raises its threshold, and thereby limits the response of autoreactive B cells [review] (PMID:21395509)
• Data show that CD5 expression is associated with NFAT2 activity and mildly STAT3 activity, indicating that CD5 controls IL-10 secretion. (PMID:21398617)
• Conclude that high percentages of CD5+B cells independently associate with increased risk of early conversion to multiple sclerosis in clinically isolated syndrome patients. (PMID:21436320)
• Post-thymic regulation of CD5 levels in human memory T cells is inversely associated with the strength of responsiveness to interleukin-15. (PMID:21539877)
• CD5 glycoprotein-mediated T cell inhibition dependent on inhibitory phosphorylation of Fyn kinase (PMID:21757751)
• immunological significance of CD19 for the IL-10 production by CD5(+) B cells (PMID:21786452)
• The primary carcinoma showing thymus-like elements of the thyroid frequently expresses KIT and CD5 proteins. (PMID:21835435)
• Case Report: describe the recurrence of CD5 positive MALT lymphoma in the oral cavity and compared the immunohistochemical expressions of CD5, lambda, and kappa between the primary and recurrent tumors. (PMID:21892966)
• Alternative costimulation via CD5, rather than classic costimulation via CD28, primes naive T cells for stable Th17 development through promoting the expression of IL-23R. (PMID:21926348)
• Hepatitis C virus infection of human T lymphocytes is mediated by CD5. (PMID:22278227)
• Case Report: CD5-positive marginal zone B-cell lymphoma of the mucosa-associated lymphoid tissue (MALT) of the lung. (PMID:22333190)
• Bcl-2 and CD5 are associated in non-Hodgkin lymphoma of head and neck and may be markers of poor prognosis, while Bcl-6 is positive especially in the tumor forms associated with the predominance of small cells and is a marker of favorable prognosis (PMID:22395507)
• Our results show that CD5 expression is rare in MALT lymphoma, and is often associated with nongastric disease and an increased tendency to present with disseminated disease. (PMID:22406370)
• Our results indicate that CD5(+) B cell subsets might be associated with pathogenesis of SPMS. (PMID:22732449)
• Functional CD5-dependent casein kinase 2 signaling is necessary in a CD5 knock-in mouse for efficient differentiation of naive CD4+ T cells into T helper (Th)2 and Th17 cells, but not Th1-type cells. (PMID:22904299)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-14d8.20	ENSDARG00000045837
danio_rerio	si:ch211-150o23.3	ENSDARG00000078502
mus_musculus	Cd5	ENSMUSG00000024669
rattus_norvegicus	Cd5	ENSRNOG00000020872
drosophila_melanogaster	Loxl2	FBGN0034660

Paralogs (15): CD6 (ENSG00000013725), CD5L (ENSG00000073754), LGALS3BP (ENSG00000108679), LOX (ENSG00000113083), LOXL3 (ENSG00000115318), LOXL1 (ENSG00000129038), LOXL2 (ENSG00000134013), LOXL4 (ENSG00000138131), SSC4D (ENSG00000146700), PRSS12 (ENSG00000164099), CD163 (ENSG00000177575), CD163L1 (ENSG00000177675), SSC5D (ENSG00000179954), DMBT1 (ENSG00000187908), SCART1 (ENSG00000214279)

Protein

Protein identifiers

T-cell surface glycoprotein CD5 — P06127 (reviewed: P06127)

Alternative names: Lymphocyte antigen T1/Leu-1

All UniProt accessions (2): P06127, F5GYK3

UniProt curated annotations — full annotation on UniProt →

Function. Lymphoid-specific receptor expressed by all T-cells and in a subset of B-cells known as B1a cells. Plays a role in the regulation of TCR and BCR signaling, thymocyte selection, T-cell effector differentiation and immune tolerance. Acts by interacting with several ligands expressed on B-cells such as CD5L or CD72 and thereby plays an important role in contact-mediated, T-dependent B-cell activation and in the maintenance of regulatory T and B-cell homeostasis. Functions as a negative regulator of TCR signaling during thymocyte development by associating with several signaling proteins including LCK, CD3Z chain, PI3K or CBL. Mechanistically, co-engagement of CD3 with CD5 enhances phosphorylated CBL recruitment leading to increased VAV1 phosphorylation and degradation. Modulates B-cell biology through ERK1/2 activation in a Ca(2+)-dependent pathway via the non-selective Ca(2+) channel TRPC1, leading to IL-10 production.

Subunit / interactions. Interacts with CD72/LYB-2. Interacts with PTPN6/SHP-1. Interacts with CBL. Interacts with CD5L. Interacts with CD3Z/CD247.

Subcellular location. Cell membrane.

Post-translational modifications. Phosphorylated on serine, threonine and tyrosine residues following TCR stimulation. Phosphorylated by LCK on Tyr-453 and Tyr-487 upon TCR engagement.

RefSeq proteins (2): NP_001333385, NP_055022* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001190	SRCR	Domain
IPR003566	Tcell_CD5	Family
IPR036772	SRCR-like_dom_sf	Homologous_superfamily

Pfam: PF00530

UniProt features (59 total): strand 18, disulfide bond 10, modified residue 5, helix 4, region of interest 3, sequence variant 3, domain 3, compositionally biased region 2, glycosylation site 2, topological domain 2, mutagenesis site 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2JA4	X-RAY DIFFRACTION	2.21
2OTT	X-RAY DIFFRACTION	2.5
2JOP	SOLUTION NMR
2JP0	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P06127-F1	73.32	0.32

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 (5): 439, 453, 460, 483, 485

Disulfide bonds (10): 44–86, 60–125, 81–132, 107–117, 201–267, 244–250, 285–321, 301–360, 316–367, 342–350

Glycosylation sites (2): 116, 241

Mutagenesis-validated functional residues (2):

Position	Phenotype
446–447	no loss of erk1/2 activation and il-10 production.
452–454	strong reduction of erk1/2 activation and il-10 production.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 250 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, MODULE_64, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_LYMPHOCYTE_COSTIMULATION, GOCC_CELL_SURFACE, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_75, SHANK_TAL1_TARGETS_DN, GOBP_APOPTOTIC_SIGNALING_PATHWAY, MODULE_171

GO Biological Process (3): cell recognition (GO:0008037), T cell costimulation (GO:0031295), apoptotic signaling pathway (GO:0097190)

GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
lymphocyte costimulation	1
positive regulation of T cell activation	1
apoptotic process	1
signal transduction	1
molecular transducer activity	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2346 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD5	CD72	P21854	992
CD5	CD2	P06729	984
CD5	CD4	P01730	960
CD5	CD7	P09564	956
CD5	CD8A	P01732	947
CD5	CD19	P15391	933
CD5	SPN	P16150	932
CD5	MME	P08473	925
CD5	CR2	P20023	909
CD5	CD22	P20273	888
CD5	CD38	P28907	880
CD5	PTPRC	P08575	871
CD5	CD6	P30203	864
CD5	BCL6	P41182	863
CD5	CD27	P26842	860

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PIK3R1	CD5	psi-mi:“MI:0914”(association)	0.460
CD5	CD72	psi-mi:“MI:0915”(physical association)	0.400
CD5	AP2M1	psi-mi:“MI:0915”(physical association)	0.370
CD5	IDE	psi-mi:“MI:0914”(association)	0.350
RASA1	CD5	psi-mi:“MI:0914”(association)	0.350

BioGRID (22): CD72 (Reconstituted Complex), CD6 (FRET), CD5 (Affinity Capture-Western), PTPN6 (Affinity Capture-Western), PPP1R7 (Affinity Capture-MS), IDE (Affinity Capture-MS), ZER1 (Affinity Capture-MS), SPR (Affinity Capture-MS), CBL (Affinity Capture-Western), RASA1 (Affinity Capture-Western), CD5 (Affinity Capture-Western), CD5 (Proximity Label-MS), CD5 (Affinity Capture-MS), CD5 (Affinity Capture-MS), LCK (Affinity Capture-Western)

ESM2 similar proteins: A7E3C4, D3YX43, E9Q8Q8, F1LW30, F1QVU0, O60486, O89103, O95256, P06127, P0CAN6, P0DV84, P13379, P15306, P17813, P19238, P22934, P25118, P37176, P43303, P51882, P97793, Q0VAY3, Q149L7, Q17R55, Q4R7Z5, Q5F3L3, Q5U462, Q60943, Q61137, Q63961, Q6AXV7, Q6DFV8, Q7TSN7, Q7Z442, Q80YN4, Q8C0Z1, Q8CB67, Q8HYZ0, Q8JZL1, Q8MJS1

Diamond homologs: P06127, P13379, P19238, P51882, A1L4H1, P30203, Q2VL90, Q2VLG4, Q61003, Q8BZE1

SIGNOR signaling

16 interactions.

A	Effect	B	Mechanism
LCK	“up-regulates activity”	CD5	phosphorylation
PRKCA	unknown	CD5	phosphorylation
PRKCG	unknown	CD5	phosphorylation
PRKCB	unknown	CD5	phosphorylation
CSNK2A1	up-regulates	CD5	phosphorylation
PRKCA	up-regulates	CD5	phosphorylation
PRKCG	up-regulates	CD5	phosphorylation
FYN	unknown	CD5	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1458 predictions. Top by Δscore:

Variant	Effect	Δscore
11:61115054:A:AG	acceptor_gain	1.0000
11:61115054:AGTC:A	acceptor_gain	1.0000
11:61115055:G:GG	acceptor_gain	1.0000
11:61115055:GT:G	acceptor_gain	1.0000
11:61115055:GTC:G	acceptor_gain	1.0000
11:61115055:GTCG:G	acceptor_gain	1.0000
11:61115055:GTCGC:G	acceptor_gain	1.0000
11:61115093:AGG:A	donor_loss	1.0000
11:61115095:G:GA	donor_loss	1.0000
11:61115096:T:A	donor_loss	1.0000
11:61118976:AGGT:A	donor_loss	1.0000
11:61118978:GT:G	donor_loss	1.0000
11:61118979:T:G	donor_loss	1.0000
11:61122902:CCCA:C	acceptor_loss	1.0000
11:61122904:CA:C	acceptor_loss	1.0000
11:61122905:A:AG	acceptor_gain	1.0000
11:61122905:A:T	acceptor_loss	1.0000
11:61122906:G:GA	acceptor_loss	1.0000
11:61122906:G:GG	acceptor_gain	1.0000
11:61122906:GGCCA:G	acceptor_gain	1.0000
11:61123028:GAAAT:G	donor_gain	1.0000
11:61123029:AAAT:A	donor_gain	1.0000
11:61123030:AAT:A	donor_gain	1.0000
11:61123030:AATG:A	donor_loss	1.0000
11:61123031:AT:A	donor_gain	1.0000
11:61123032:TG:T	donor_loss	1.0000
11:61123033:G:GG	donor_gain	1.0000
11:61123034:T:G	donor_loss	1.0000
11:61123045:GCCC:G	donor_gain	1.0000
11:61123877:T:A	acceptor_gain	1.0000

AlphaMissense

3222 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:61121696:G:C	W297C	0.998
11:61121696:G:T	W297C	0.998
11:61118272:G:C	W64C	0.996
11:61118272:G:T	W64C	0.996
11:61119481:G:C	W237C	0.996
11:61119481:G:T	W237C	0.996
11:61121664:G:T	G287C	0.995
11:61118399:T:A	C107S	0.991
11:61118400:G:C	C107S	0.991
11:61118216:G:T	G46C	0.988
11:61119569:T:A	C267S	0.987
11:61119570:G:C	C267S	0.987
11:61118321:T:A	C81S	0.986
11:61118322:G:C	C81S	0.986
11:61118421:T:G	F114C	0.986
11:61119371:T:A	C201S	0.986
11:61119372:G:C	C201S	0.986
11:61119522:T:G	F251C	0.985
11:61121741:G:C	W312C	0.985
11:61121741:G:T	W312C	0.985
11:61118248:G:C	W56C	0.984
11:61118248:G:T	W56C	0.984
11:61123909:G:C	W417C	0.984
11:61123909:G:T	W417C	0.984
11:61118336:T:A	C86S	0.983
11:61118337:G:C	C86S	0.983
11:61119479:T:A	W237R	0.983
11:61119479:T:C	W237R	0.983
11:61118210:T:A	C44S	0.982
11:61118211:G:C	C44S	0.982

dbSNP variants (sampled 300 via entrez): RS1000049833 (11:61126252 T>C), RS1000313350 (11:61106294 T>C), RS1000367998 (11:61119064 G>A,T), RS1000388619 (11:61093403 C>A,T), RS1000408236 (11:61095588 G>C), RS1000463647 (11:61102922 T>C,G), RS1000685325 (11:61106030 C>T), RS1000738160 (11:61094280 A>G), RS1000757920 (11:61095808 T>A), RS1000759698 (11:61093230 C>A,T), RS1000971565 (11:61117695 C>T), RS1001121609 (11:61113756 C>T), RS1001141520 (11:61111266 T>A), RS1001155071 (11:61101898 ATCTC>A,ATC,ATCTCTC), RS1001173943 (11:61126212 C>A,T)

Disease associations

OMIM: gene MIM:153340 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001198_8	Multiple sclerosis	2.000000e-11
GCST001725_10	Inflammatory bowel disease	9.000000e-13
GCST002318_129	Rheumatoid arthritis	3.000000e-06
GCST003854_12	Gut microbiota (functional units)	2.000000e-07
GCST003854_17	Gut microbiota (functional units)	1.000000e-06
GCST003854_56	Gut microbiota (functional units)	5.000000e-06
GCST003855_19	Gut microbiota (bacterial taxa)	1.000000e-06
GCST003855_20	Gut microbiota (bacterial taxa)	1.000000e-06
GCST003855_21	Gut microbiota (bacterial taxa)	1.000000e-06
GCST005531_76	Multiple sclerosis	2.000000e-07
GCST005568_47	Rheumatoid arthritis (ACPA-positive)	6.000000e-06
GCST005569_21	Rheumatoid arthritis	3.000000e-08
GCST006048_13	Rheumatoid arthritis (ACPA-positive)	6.000000e-06
GCST006192_46	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-06
GCST006195_89	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-09
GCST006959_87	Rheumatoid arthritis	4.000000e-06
GCST008526_34	Coffee consumption	1.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006781	coffee consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3712888 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression	2
Lipopolysaccharides	decreases expression, increases expression, affects response to substance	2
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
(+)-JQ1 compound	decreases expression	1
Bortezomib	decreases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation	1
Diazinon	increases methylation	1
Malathion	decreases expression	1
Nickel	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases methylation	1
Antirheumatic Agents	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A5ZI	JOK-1/5.3	Cancer cell line	Male
CVCL_B8D4	Abcam HCT 116 CD5 KO	Cancer cell line	Male
CVCL_B9FB	Abcam A-549 CD5 KO	Cancer cell line	Male
CVCL_D2E9	Abcam MCF-7 CD5 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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