CEACAM21

Summary

CEACAM21 (CEA cell adhesion molecule 21, HGNC:28834) is a protein-coding gene on chromosome 19q13.2, encoding Cell adhesion molecule CEACAM21 (Q3KPI0).

Predicted to be involved in T cell activation and immune response. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane.

Source: NCBI Gene 90273 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 63 total
• GTEx eGene: eQTL in 44 tissues, sQTL in 18 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.43 (unconstrained)
• MANE Select transcript: NM_001098506
• Notable: 63 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28834
Approved symbol	CEACAM21
Name	CEA cell adhesion molecule 21
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	R29124_1, FLJ13540
Ensembl gene	ENSG00000007129
Ensembl biotype	protein_coding
OMIM	618191
Entrez	90273

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000401445

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 1, TSL 3: 1, TSL 5: 2

ENST00000401445, ENST00000187608, ENST00000407170, ENST00000457737, ENST00000482870, ENST00000618577, ENST00000632983, ENST00000890424, ENST00000890425, ENST00000967641, ENST00000996526, ENST00000996527, ENST00001019376, ENST00001019377, ENST00001019378, ENST00001137688

RefSeq mRNA: 4 — MANE Select: NM_001098506 NM_001098506, NM_001288773, NM_001290113, NM_033543

CCDS: CCDS46086, CCDS46087, CCDS74373

Canonical transcript exons

ENST00000401445 — 7 exons

Exon	Start	End
ENSE00001476587	41584347	41584443
ENSE00001813751	41586464	41586844
ENSE00001821184	41576166	41576338
ENSE00003506004	41579353	41579628
ENSE00003558986	41585443	41585495
ENSE00003587232	41577200	41577559
ENSE00003603125	41585840	41585871

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 92.02.

FANTOM5 (CAGE): breadth broad, TPM avg 7.9132 / max 396.1095, expressed in 580 samples.

Highest expression (Bgee): lymph node, granulocyte, blood, bone marrow cell, bone marrow.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CEACAM21 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 44 tissues and its splicing (sQTL) in 18 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 62 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	eqtl	8.8e-156	-0.79	19:41586462:A:T
Cells EBV-transformed lymphocytes	sqtl	2.4e-112	+1.41	19:41565931:A:G
Whole Blood	sqtl	8.7e-70	+0.91	19:41586462:A:T
Lung	eqtl	6.2e-48	-0.67	19:41586462:A:T
Adipose Subcutaneous	eqtl	5.6e-45	-0.60	19:41588381:A:G
Adipose Visceral Omentum	eqtl	4.3e-43	-0.70	19:41586462:A:T
Lung	sqtl	9.9e-40	+0.94	19:41586462:A:T
Spleen	sqtl	5.0e-33	+1.29	19:41586462:A:T
Breast Mammary Tissue	eqtl	8.0e-28	-0.59	19:41586462:A:T
Thyroid	eqtl	7.4e-27	-0.44	19:41588381:A:G
Testis	sqtl	1.0e-26	+0.95	19:41586462:A:T
Spleen	eqtl	1.3e-20	-0.60	19:41579520:G:A
Artery Tibial	eqtl	3.2e-20	-0.45	19:41586462:A:T
Colon Transverse	eqtl	3.3e-19	-0.34	19:41577830:C:G
Artery Aorta	eqtl	7.5e-19	-0.42	19:41588381:A:G
Adrenal Gland	eqtl	5.3e-18	-0.68	19:41588381:A:G
Brain Hypothalamus	eqtl	5.6e-18	-0.60	19:41586462:A:T
Cells EBV-transformed lymphocytes	eqtl	3.4e-17	-0.61	19:41586462:A:T
Adipose Visceral Omentum	sqtl	5.4e-15	+0.67	19:41586462:A:T
Brain Hypothalamus	sqtl	4.1e-13	+0.96	19:41586462:A:T

FANTOM5 promoters

5 alternative TSS:

Promoter ID	TPM avg	Samples expressed
176040	6.8625	414
176044	0.7843	290
208829	0.1197	49
176042	0.1143	25
176043	0.0324	8

Top tissues by expression

showing 100 of 135 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	92.02	gold quality
granulocyte	CL:0000094	91.88	gold quality
blood	UBERON:0000178	90.93	gold quality
bone marrow cell	CL:0002092	88.57	gold quality
bone marrow	UBERON:0002371	88.50	gold quality
spleen	UBERON:0002106	87.14	gold quality
vermiform appendix	UBERON:0001154	85.65	gold quality
placenta	UBERON:0001987	79.09	gold quality
leukocyte	CL:0000738	78.71	gold quality
monocyte	CL:0000576	77.66	gold quality
hypothalamus	UBERON:0001898	77.44	gold quality
gall bladder	UBERON:0002110	76.86	gold quality
right lung	UBERON:0002167	76.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.62	silver quality
small intestine Peyer’s patch	UBERON:0003454	75.46	gold quality
rectum	UBERON:0001052	75.18	gold quality
substantia nigra	UBERON:0002038	74.86	gold quality
small intestine	UBERON:0002108	74.23	gold quality
upper lobe of left lung	UBERON:0008952	73.55	gold quality
duodenum	UBERON:0002114	72.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.22	gold quality
lung	UBERON:0002048	71.75	gold quality
omental fat pad	UBERON:0010414	69.68	gold quality
smooth muscle tissue	UBERON:0001135	69.57	gold quality
apex of heart	UBERON:0002098	69.38	gold quality
right coronary artery	UBERON:0001625	69.23	gold quality
tonsil	UBERON:0002372	68.99	gold quality
mucosa of transverse colon	UBERON:0004991	68.43	gold quality
adipose tissue	UBERON:0001013	68.07	gold quality
subcutaneous adipose tissue	UBERON:0002190	66.81	gold quality
right adrenal gland	UBERON:0001233	65.80	gold quality
intestine	UBERON:0000160	65.64	gold quality
transverse colon	UBERON:0001157	65.42	gold quality
fallopian tube	UBERON:0003889	65.42	gold quality
right adrenal gland cortex	UBERON:0035827	65.03	gold quality
urinary bladder	UBERON:0001255	64.68	gold quality
left adrenal gland	UBERON:0001234	64.61	gold quality
left adrenal gland cortex	UBERON:0035825	64.61	gold quality
adrenal gland	UBERON:0002369	64.22	gold quality
colonic epithelium	UBERON:0000397	63.59	gold quality
left coronary artery	UBERON:0001626	63.33	gold quality
thoracic mammary gland	UBERON:0005200	63.04	gold quality
colon	UBERON:0001155	62.82	gold quality
right lobe of liver	UBERON:0001114	62.49	gold quality
thoracic aorta	UBERON:0001515	62.31	gold quality
descending thoracic aorta	UBERON:0002345	62.25	gold quality
right lobe of thyroid gland	UBERON:0001119	62.19	gold quality
ascending aorta	UBERON:0001496	62.12	gold quality
body of stomach	UBERON:0001161	61.73	gold quality
left uterine tube	UBERON:0001303	61.69	gold quality
temporal lobe	UBERON:0001871	61.48	gold quality
metanephros cortex	UBERON:0010533	61.47	gold quality
amygdala	UBERON:0001876	61.45	gold quality
liver	UBERON:0002107	61.09	gold quality
endometrium	UBERON:0001295	61.02	gold quality
fundus of stomach	UBERON:0001160	61.00	gold quality
tibial nerve	UBERON:0001323	60.89	gold quality
saliva-secreting gland	UBERON:0001044	60.81	gold quality
material anatomical entity	UBERON:0000465	60.80	gold quality
multicellular organism	UBERON:0000468	60.80	gold quality
anatomical system	UBERON:0000467	60.78	gold quality
minor salivary gland	UBERON:0001830	60.75	gold quality
myometrium	UBERON:0001296	60.17	gold quality
cortex of kidney	UBERON:0001225	60.15	gold quality
Ammon’s horn	UBERON:0001954	60.06	gold quality
stomach	UBERON:0000945	59.96	gold quality
thyroid gland	UBERON:0002046	59.70	gold quality
heart	UBERON:0000948	59.34	gold quality
prostate gland	UBERON:0002367	59.24	gold quality
left lobe of thyroid gland	UBERON:0001120	59.21	gold quality
esophagus mucosa	UBERON:0002469	59.04	gold quality
right atrium auricular region	UBERON:0006631	59.02	gold quality
heart left ventricle	UBERON:0002084	58.80	gold quality
muscle layer of sigmoid colon	UBERON:0035805	58.60	gold quality
ectocervix	UBERON:0012249	58.44	gold quality
body of uterus	UBERON:0009853	57.77	gold quality
esophagus	UBERON:0001043	57.41	gold quality
right ovary	UBERON:0002118	57.30	gold quality
uterine cervix	UBERON:0000002	56.98	gold quality
endocervix	UBERON:0000458	56.91	gold quality
putamen	UBERON:0001874	56.66	gold quality
vagina	UBERON:0000996	56.61	gold quality
brain	UBERON:0000955	55.95	gold quality
lower esophagus	UBERON:0013473	55.94	gold quality
lower esophagus muscularis layer	UBERON:0035833	55.93	gold quality
caudate nucleus	UBERON:0001873	55.71	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	55.56	gold quality
right uterine tube	UBERON:0001302	55.51	gold quality
nucleus accumbens	UBERON:0001882	55.43	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	54.87	gold quality
mucosa of stomach	UBERON:0001199	54.85	gold quality
anterior cingulate cortex	UBERON:0009835	54.81	gold quality
pituitary gland	UBERON:0000007	54.79	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	54.59	gold quality
tibial artery	UBERON:0007610	54.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	54.55	gold quality
popliteal artery	UBERON:0002250	54.52	gold quality
adenohypophysis	UBERON:0002196	54.35	gold quality
adult mammalian kidney	UBERON:0000082	53.69	gold quality
ovary	UBERON:0000992	53.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	155.99
E-ANND-3	no	1.37

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 62 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Bone marrow	tissue	16.5	medium
Hypothalamus	tissue	7.3
Midbrain	tissue	5.1
Substantia nigra	tissue	5.1
Lymph node	tissue	5.0
Spleen	tissue	4.0	low
Pons	tissue	3.8
Locus coeruleus	tissue	3.8
Lung	tissue	3.5	high
Seminal vesicle	tissue	3.4	medium
Medulla oblongata	tissue	3.2
Tonsil	tissue	3.2	medium
Spinal cord	tissue	2.7
Endometrium 1	tissue	2.5	medium
Thalamus	tissue	2.4
Cervix	tissue	2.1	medium
Cerebral cortex	tissue	2.0	high
Basal ganglia	tissue	2.0	medium
Thymus	tissue	2.0
Appendix	tissue	2.0	medium
Placenta	tissue	1.4	high
Amygdala	tissue	1.1
Liver	tissue	1.1	medium
Small intestine	tissue	1.0	medium
Stomach 1	tissue	0.8	high
Cerebellum	tissue	0.8	medium
Hippocampal formation	tissue	0.8
Urinary bladder	tissue	0.7	medium
Hippocampus	tissue	0.7	medium
Testis	tissue	0.6	medium
Adipose tissue	tissue	0.6	not detected
Colon	tissue	0.6	medium
Ovary	tissue	0.5	low
Rectum	tissue	0.5	medium
Nucleus accumbens	tissue	0.5
Gallbladder	tissue	0.5	medium
Duodenum	tissue	0.5	medium
Adrenal gland	tissue	0.5	medium
Retrosplenial cortex	tissue	0.5
Pituitary gland	tissue	0.4
Salivary gland	tissue	0.4	medium
Smooth muscle	tissue	0.4	low
Putamen	tissue	0.4
Fallopian tube	tissue	0.4	medium
Heart muscle	tissue	0.3	high
Vagina	tissue	0.3	medium
Epididymis	tissue	0.3	medium
Choroid plexus	tissue	0.3
Thyroid gland	tissue	0.3	medium
Occipital cortex	tissue	0.3
Breast	tissue	0.2	medium
Skin 1	tissue	0.1	medium
Esophagus	tissue	0.1	medium
Parathyroid gland	tissue	0.1	high
Kidney	tissue	0.1	medium
Prostate	tissue	0.1	high
Skeletal muscle	tissue	0.0	low
Pancreas	tissue	0.0	medium
Nasopharynx	tissue	-1.0	medium
Bronchus	tissue	-1.0	medium

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Ventromedial nucleus (7.3), Paraventricular nucleus (5.3), Ventral tegmental area (4.1), Arcuate nucleus (3.8), Periaquaductal grey, dorsal (3.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CEACAM21 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

6 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-592	96.59	67.59	817

Functional genomics

gnomAD constraint: pLI 1.63e-14, LOEUF 1.43, missense Z -0.118 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000401445 — one region, missense o/e 1.06.

Literature-anchored findings (GeneRIF, showing 1)

• This study revealed CEACAM21 as novel schizophrenia candidate genes in the Jewish population (PMID:21682944)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ceacam9	ENSMUSG00000007209
mus_musculus	Ceacam15	ENSMUSG00000078795
rattus_norvegicus	Ceacam15	ENSRNOG00000028617
rattus_norvegicus	Ceacam9	ENSRNOG00000046915
rattus_norvegicus	Ceacam15l1	ENSRNOG00000065825

Paralogs (24): CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	A4FUY1	87.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CEACAM4	protein-coding	1089
LINC01480	ncRNA	101927931
PCAT19	ncRNA	100505495

Protein

Protein identifiers

Cell adhesion molecule CEACAM21 — Q3KPI0 (reviewed: Q3KPI0)

Alternative names: Carcinoembryonic antigen-related cell adhesion molecule 21

All UniProt accessions (3): Q3KPI0, A0A0B4J1W4, A0A0J9YX60

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q3KPI0-1	1	yes
Q3KPI0-2	2
Q3KPI0-3	3

RefSeq proteins (4): NP_001091976, NP_001275702, NP_001277042, NP_291021 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050831	CEA_cell_adhesion	Family

Pfam: PF07686, PF13927

UniProt features (13 total): splice variant 2, sequence variant 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1, glycosylation site 1, disulfide bond 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3KPI0-F1	85.54	0.72

Human Protein Atlas

Protein class: Predicted membrane proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH uncertain

Functional residue map

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

Disulfide bonds (1)

Type	Positions
Disulfide bond	166–214

Glycosylation sites (1)

Type	Positions
N-linked (glcnac…) asparagine	111

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 124 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOCC_CELL_SURFACE, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, BROWN_MYELOID_CELL_DEVELOPMENT_UP, AFFAR_YY1_TARGETS_UP, DOUGLAS_BMI1_TARGETS_UP, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, GOCC_SIDE_OF_MEMBRANE, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, YOSHIMURA_MAPK8_TARGETS_UP, MIKKELSEN_ES_ICP_WITH_H3K4ME3

GO Biological Process (2): immune response (GO:0006955), T cell activation (GO:0042110)

GO Cellular Component (2): external side of plasma membrane (GO:0009897), membrane (GO:0016020)

GO top-level categories

7 GO namespaces:

Category	Terms
immune system process	1
response to stimulus	1
lymphocyte activation	1
plasma membrane	1
cell surface	1
side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 472 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEACAM21	CEACAM19	Q7Z692	603
CEACAM21	SIGLEC5	O15389	356
CEACAM21	HOXA2	O43364	348
CEACAM21	DMAC2	Q9NW81	343
CEACAM21	EFHB	Q8N7U6	306
CEACAM21	CEACAM18	A8MTB9	271
CEACAM21	CAPSL	Q8WWF8	270
CEACAM21	CEACAM20	Q6UY09	262
CEACAM21	FPR1	P21462	261
CEACAM21	CD177	Q8N6Q3	257
CEACAM21	S100A12	P80511	255
CEACAM21	CLEC7A	Q9BXN2	245
CEACAM21	CSF3R	Q99062	245
CEACAM21	C11orf42	Q8N5U0	236
CEACAM21	Q3SX90	Q3SX90	225

IntAct

Human interaction partners of CEACAM21 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
LILRA6	physical association	0.400	1
LILRB1	physical association	0.400	1
GAPDHS	association	0.350	1
MET	association	0.350	1
VGLL4	association	0.350	1

BioGRID (149 interactions; top human partners by supporting records): ABCB10 (Affinity Capture-MS; 3 records), ABHD14A (Affinity Capture-MS; 3 records), ATR (Affinity Capture-MS; 3 records), CCDC51 (Affinity Capture-MS; 3 records), CDON (Affinity Capture-MS; 3 records), CNTN1 (Affinity Capture-MS; 3 records), DAG1 (Affinity Capture-MS; 3 records), EFNB1 (Affinity Capture-MS; 3 records), EPHA4 (Affinity Capture-MS; 3 records), FAT4 (Affinity Capture-MS; 3 records), FUT8 (Affinity Capture-MS; 3 records), GOLGA5 (Affinity Capture-MS; 3 records), ITFG1 (Affinity Capture-MS; 3 records), ITIH2 (Affinity Capture-MS; 3 records), KIAA1524 (Affinity Capture-MS; 3 records)

Disease & clinical

Genetic variants

Variant evidence for CEACAM21: 63 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	2
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 42 predictions of 644):

Position(s)	Effect	Δscore	Sites
19:41579630	donor_loss	1.0000	2
19:41576339–41576340	donor_loss	0.9900	4
19:41577560–41577561	donor_loss	0.9900	5
19:41579629	donor_loss	0.9900
19:41584444–41584445	donor_loss	0.9900	6
19:41585441–41585442	acceptor_loss	0.9900	4
19:41585496–41585497	donor_loss	0.9900	5
19:41585838–41585839	acceptor_loss	0.9900	6
19:41585872–41585873	donor_loss	0.9900	5
19:41586462–41586463	acceptor_loss	0.9900	4

AlphaMissense

288 missense substitutions predicted likely pathogenic (of 1,899 scored), across 102 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D116	8	0.899	0.954
D208	8	0.862	0.934
W177	7	0.950	0.992
W67	7	0.943	0.987
C166	7	0.927	0.968
C214	7	0.922	0.981
E99	7	0.766	0.938
S225	6	0.913	0.972
G92	6	0.896	0.939
G210	6	0.819	0.929
G70	6	0.815	0.906
P147	6	0.804	0.943
Y212	5	0.972	0.982
Y120	5	0.901	0.956
G118	5	0.821	0.909
K69	5	0.796	0.914
F179	5	0.790	0.858
V140	5	0.786	0.892
F109	5	0.768	0.936
N218	5	0.765	0.902

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Uterine Corpus Endometrial Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Lung Adenocarcinoma (TCGA)	favorable	0.000829
Kidney Renal Clear Cell Carcinoma (TCGA)	unfavorable	0.000985

Disease associations

OMIM: gene MIM:618191 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST001714_2	Prostate cancer	2e-12
GCST001714_1	Prostate cancer	1e-8
GCST001119_2	Schizophrenia	1e-7
GCST004744_57	Lung adenocarcinoma	3e-7

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
arsenite	affects expression	1
perfluorooctanoic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Amphotericin B	increases expression	1
Benzo(a)pyrene	affects methylation	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.