HEPACAM2

Summary

HEPACAM2 (HEPACAM family member 2, HGNC:27364) is a protein-coding gene on chromosome 7q21.2, encoding HEPACAM family member 2 (A8MVW5). Required during prometaphase for centrosome maturation.

This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients.

Source: NCBI Gene 253012 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
• Clinical variants (ClinVar): 77 total
• GTEx eGene: eQTL in 3 tissues, sQTL in 1 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.18 (unconstrained)
• MANE Select transcript: NM_001039372
• Notable: 77 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27364
Approved symbol	HEPACAM2
Name	HEPACAM family member 2
Location	7q21.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38683
Ensembl gene	ENSG00000188175
Ensembl biotype	protein_coding
OMIM	614133
Entrez	253012

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000394468

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

ENST00000394468, ENST00000341723, ENST00000440868, ENST00000453812, ENST00000492616, ENST00000890314, ENST00001002842, ENST00001002843, ENST00001139131

RefSeq mRNA: 5 — MANE Select: NM_001039372 NM_001039372, NM_001288804, NM_001288810, NM_001346642, NM_198151

CCDS: CCDS43616, CCDS5629, CCDS75631, CCDS75632

Canonical transcript exons

ENST00000394468 — 10 exons

Exon	Start	End
ENSE00001366850	93208580	93208876
ENSE00001369026	93197373	93197397
ENSE00001381094	93215401	93215685
ENSE00001518563	93219101	93219451
ENSE00001518564	93226368	93226469
ENSE00003481961	93197485	93197610
ENSE00003558841	93192254	93192363
ENSE00003562277	93195828	93195901
ENSE00003672854	93197241	93197278
ENSE00003893246	93188534	93189270

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 98.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.9072 / max 1445.9033, expressed in 79 samples.

Highest expression (Bgee): ileal mucosa, mucosa of sigmoid colon, colonic mucosa, rectum, islet of Langerhans.

Genetic regulation across tissues (GTEx eQTL / sQTL)

HEPACAM2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 3 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

4 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Breast Mammary Tissue	eqtl	5.4e-03	+0.65	7:93022411:C:G
Skin Sun Exposed Lower leg	eqtl	2.0e-02	+0.35	7:93232313:C:T
Nerve Tibial	eqtl	2.0e-02	+0.39	7:93067124:G:A
Testis	sqtl	3.1e-02	+1.26	7:93259868:A:AT

FANTOM5 promoters

4 alternative TSS:

Promoter ID	TPM avg	Samples expressed
84865	2.8183	68
84864	0.0435	15
84863	0.0280	11
84861	0.0174	4

Top tissues by expression

showing 100 of 233 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	98.15	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.14	gold quality
colonic mucosa	UBERON:0000317	97.16	gold quality
rectum	UBERON:0001052	96.67	gold quality
islet of Langerhans	UBERON:0000006	95.21	gold quality
palpebral conjunctiva	UBERON:0001812	92.81	gold quality
mucosa of transverse colon	UBERON:0004991	90.74	gold quality
jejunal mucosa	UBERON:0000399	88.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.12	gold quality
duodenum	UBERON:0002114	86.67	gold quality
kidney epithelium	UBERON:0004819	83.23	silver quality
transverse colon	UBERON:0001157	82.73	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.12	gold quality
small intestine	UBERON:0002108	81.21	gold quality
adult mammalian kidney	UBERON:0000082	80.16	gold quality
colonic epithelium	UBERON:0000397	79.87	gold quality
metanephros cortex	UBERON:0010533	77.53	gold quality
kidney	UBERON:0002113	76.07	gold quality
intestine	UBERON:0000160	75.37	gold quality
pancreas	UBERON:0001264	74.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.10	gold quality
pituitary gland	UBERON:0000007	74.07	gold quality
cortex of kidney	UBERON:0001225	73.85	gold quality
bronchial epithelial cell	CL:0002328	73.42	gold quality
large intestine	UBERON:0000059	73.38	gold quality
jejunum	UBERON:0002115	72.65	gold quality
colon	UBERON:0001155	72.29	gold quality
bronchus	UBERON:0002185	72.16	gold quality
adenohypophysis	UBERON:0002196	70.92	gold quality
renal medulla	UBERON:0000362	70.18	gold quality
bone marrow	UBERON:0002371	69.23	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	68.05	gold quality
bone marrow cell	CL:0002092	67.75	silver quality
body of pancreas	UBERON:0001150	67.04	gold quality
trabecular bone tissue	UBERON:0002483	66.85	gold quality
pancreatic ductal cell	CL:0002079	66.77	silver quality
caecum	UBERON:0001153	65.39	gold quality
vermiform appendix	UBERON:0001154	65.37	gold quality
metanephros	UBERON:0000081	64.97	gold quality
minor salivary gland	UBERON:0001830	62.83	gold quality
body of stomach	UBERON:0001161	62.08	gold quality
stomach	UBERON:0000945	61.29	gold quality
epithelial cell of pancreas	CL:0000083	60.41	silver quality
saliva-secreting gland	UBERON:0001044	60.41	gold quality
mouth mucosa	UBERON:0003729	59.91	gold quality
epithelium of mammary gland	UBERON:0003244	58.96	silver quality
mammary duct	UBERON:0001765	58.81	silver quality
epithelium of nasopharynx	UBERON:0001951	58.59	silver quality
cardia of stomach	UBERON:0001162	58.15	silver quality
monocyte	CL:0000576	57.12	gold quality
nasal cavity mucosa	UBERON:0001826	56.90	gold quality
fundus of stomach	UBERON:0001160	56.88	gold quality
pylorus	UBERON:0001166	56.72	gold quality
leukocyte	CL:0000738	56.47	gold quality
right testis	UBERON:0004534	56.31	gold quality
testis	UBERON:0000473	55.78	gold quality
left testis	UBERON:0004533	55.69	gold quality
blood	UBERON:0000178	55.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	54.45	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
smooth muscle tissue	UBERON:0001135	53.65	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
nasal cavity epithelium	UBERON:0005384	53.24	gold quality
trachea	UBERON:0003126	53.23	silver quality
thoracic mammary gland	UBERON:0005200	53.05	gold quality
mammary gland	UBERON:0001911	52.91	gold quality
tibialis anterior	UBERON:0001385	51.72	silver quality
myocardium	UBERON:0002349	50.25	gold quality
adult organism	UBERON:0007023	49.74	silver quality
deltoid	UBERON:0001476	49.44	gold quality
tonsil	UBERON:0002372	48.70	gold quality
quadriceps femoris	UBERON:0001377	48.06	gold quality
muscle layer of sigmoid colon	UBERON:0035805	48.00	gold quality
gall bladder	UBERON:0002110	46.94	gold quality
upper leg skin	UBERON:0004262	46.58	silver quality
superior surface of tongue	UBERON:0007371	45.97	silver quality
vastus lateralis	UBERON:0001379	45.63	gold quality
buccal mucosa cell	CL:0002336	44.59	gold quality
prefrontal cortex	UBERON:0000451	44.35	gold quality
mucosa of paranasal sinus	UBERON:0005030	44.34	silver quality
skin of hip	UBERON:0001554	44.01	silver quality
muscle tissue	UBERON:0002385	44.01	gold quality
prostate gland	UBERON:0002367	43.95	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
anatomical system	UBERON:0000467	43.06	gold quality
multicellular organism	UBERON:0000468	43.06	gold quality
material anatomical entity	UBERON:0000465	43.05	gold quality
corpus epididymis	UBERON:0004359	42.94	gold quality
parotid gland	UBERON:0001831	42.93	gold quality
urinary bladder	UBERON:0001255	42.76	gold quality
thymus	UBERON:0002370	42.76	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
lymph node	UBERON:0000029	42.16	silver quality
tongue	UBERON:0001723	41.92	silver quality
left adrenal gland	UBERON:0001234	41.84	silver quality
forebrain	UBERON:0001890	41.48	gold quality
adrenal gland	UBERON:0002369	41.36	silver quality
superficial temporal artery	UBERON:0001614	41.33	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	2859.69
E-CURD-114	yes	310.15
E-HCAD-38	yes	272.00
E-CURD-46	yes	231.07
E-GEOD-125970	yes	36.32
E-CURD-119	yes	18.16
E-MTAB-8410	yes	14.04
E-HCAD-31	no	3.23
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 62 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Rectum	tissue	90.3
Colon	tissue	60.3
Small intestine	tissue	45.2
Spinal cord	tissue	34.4
Duodenum	tissue	28.3
Medulla oblongata	tissue	18.7
Kidney	tissue	14.2
Corpus callosum	tissue	13.9
Midbrain	tissue	10.1
Stomach 1	tissue	9.6
Periaqueductal gray	tissue	8.5
Breast	tissue	8.3
Substantia nigra	tissue	7.2
Thalamus	tissue	6.9
Pituitary gland	tissue	6.8
Pons	tissue	6.0
Superior colliculi	tissue	5.8
Hippocampal formation	tissue	5.0
Hypothalamus	tissue	4.7
Amygdala	tissue	4.5
Pancreas	tissue	4.1
Basal ganglia	tissue	4.1
Putamen	tissue	4.1
Septum	tissue	3.9
Ventral forebrain	tissue	3.8
Cerebral cortex	tissue	3.5
Motor cortex	tissue	3.5
Prefrontal cortex	tissue	3.4
Entorhinal cortex	tissue	3.4
Retrosplenial cortex	tissue	3.4
Insular cortex	tissue	3.4
Occipital cortex	tissue	3.3
Retrosplenial and cingulate cortex	tissue	3.2
Temporal cortex	tissue	3.2
Somatosensory cortex	tissue	3.1
Testis	tissue	3.0
Bone marrow	tissue	2.4
Olfactory bulb	tissue	2.4
Appendix	tissue	2.2
Cerebellum	tissue	1.9
Salivary gland	tissue	1.4
Smooth muscle	tissue	1.4
Seminal vesicle	tissue	1.3
Tonsil	tissue	1.0
Prostate	tissue	0.7
Epididymis	tissue	0.5
Parathyroid gland	tissue	0.4
Caudate putamen	tissue	0.4
Frontal cortex	tissue	0.3
Urinary bladder	tissue	0.2
Gallbladder	tissue	0.2
Postcentral gyrus	tissue	0.2
Heart muscle	tissue	0.1
Adipose tissue	tissue	0.1
Esophagus	tissue	0.1
Nucleus accumbens	tissue	0.1
Placenta	tissue	0.1
Lung	tissue	0.1
Locus coeruleus	tissue	0.1
Hippocampus	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 173; highest nTPM — Ventral spinal cord (34.4), Dorsal spinal cord (28.5), White matter (13.9), Dorsal hippocampus (5.0), Ventral hippocampus (4.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting HEPACAM2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 45 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4803	99.98	71.99	3117
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-4728-3P	99.47	68.94	981

Functional genomics

gnomAD constraint: pLI 4.99e-11, LOEUF 1.18, missense Z 1 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000394468 — one region, missense o/e 0.94.

Literature-anchored findings (GeneRIF, showing 1)

• The data suggest that PARsylation of Miki by tankyrase-1 is a key initial event promoting prometaphase. (PMID:22864114)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hepacam2	ENSDARG00000061365
mus_musculus	Hepacam2	ENSMUSG00000044156
rattus_norvegicus	Hepacam2	ENSRNOG00000009711

Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), 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	A6QQC6	90.6%	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
CDK6-AS1	ncRNA	101927497
CDK6	protein-coding	1021
SAMD9L	protein-coding	219285
SAMD9	protein-coding	54809
VPS50	protein-coding	55610
MIR489	ncRNA	574442
MIR653	ncRNA	724023
CALCR	protein-coding	799
MIR4652	ncRNA	100616206

Protein

Protein identifiers

HEPACAM family member 2 — A8MVW5 (reviewed: A8MVW5)

Alternative names: Mitotic kinetics regulator

All UniProt accessions (2): A8MVW5, C9JN07

UniProt curated annotations — full annotation on UniProt →

Function. Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation.

Subcellular location. Golgi apparatus membrane. Cytoplasm. Cytoskeleton. Spindle. Microtubule organizing center. Centrosome. Midbody.

Tissue specificity. Widely expressed.

Post-translational modifications. Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during late G2 and prophase, leading to translocation to mitotic centrosomes. N-glycosylated.

Isoforms (3)

UniProt ID	Names	Canonical?
A8MVW5-1	1	yes
A8MVW5-2	2
A8MVW5-3	3

RefSeq proteins (5): NP_001034461, NP_001275733, NP_001275739, NP_001333571, NP_937794 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR052280	HEPACAM_domain	Family

Pfam: PF13927

UniProt features (18 total): glycosylation site 4, sequence variant 3, disulfide bond 2, splice variant 2, domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, topological domain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MVW5-F1	78.76	0.55

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): mitotic spindle; vesicles; nucleoplasm

Antibody reliability (HPA): IF supported

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 (2)

Type	Positions
Disulfide bond	170–219, 270–315

Glycosylation sites (4)

Type	Positions
N-linked (glcnac…) asparagine	85, 129, 165, 320

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: 120 (showing top): GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, HNF1_01, SOX5_01, GOCC_SPINDLE, GOCC_MITOTIC_SPINDLE, GOBP_CELL_DIVISION, GOCC_MIDBODY, GOBP_CELL_CYCLE_PROCESS, NIKOLSKY_MUTATED_AND_AMPLIFIED_IN_BREAST_CANCER, PR_Q2, PR_01, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, MIKKELSEN_MEF_ICP_WITH_H3K27ME3

GO Biological Process (2): centrosome cycle (GO:0007098), cell division (GO:0051301)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), centrosome (GO:0005813), spindle (GO:0005819), midbody (GO:0030496), mitotic spindle (GO:0072686)

GO top-level categories

15 GO namespaces:

Category	Terms
cell cycle process	1
microtubule organizing center organization	1
cellular process	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
centriole	1
microtubule organizing center	1
microtubule cytoskeleton	1
intracellular membraneless organelle	1
cellular anatomical structure	1
spindle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

6 experimentally-supported GO terms:

GO term	NS	Evidence
centrosome cycle	BP	mutant phenotype
Golgi apparatus	CC	direct assay
centrosome	CC	direct assay
midbody	CC	direct assay
mitotic spindle	CC	direct assay
spindle	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 478 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HEPACAM2	VPS50	Q96JG6	632
HEPACAM2	SAMD9L	Q8IVG5	596
HEPACAM2	SAMD9	Q5K651	534
HEPACAM2	NAPG	Q99747	485
HEPACAM2	CALCR	P30988	482
HEPACAM2	SERPINB12	Q96P63	439
HEPACAM2	FAM133B	Q5BKY9	438
HEPACAM2	PNLIPRP3	Q17RR3	411
HEPACAM2	IRF1	P10914	370
HEPACAM2	CDK6	Q00534	370
HEPACAM2	DFFB	O76075	368
HEPACAM2	SH3BGRL3	Q9H299	366
HEPACAM2	SBSN	Q6UWP8	362
HEPACAM2	MINAR1	Q9UPX6	357
HEPACAM2	CCDC83	Q8IWF9	348

IntAct

Human interaction partners of HEPACAM2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
PIK3R2	association	0.350	1

BioGRID (81 interactions; top human partners by supporting records): BMPR1A (Affinity Capture-MS; 3 records), CADM4 (Affinity Capture-MS; 3 records), CERK (Affinity Capture-MS; 3 records), CYB5R1 (Affinity Capture-MS; 3 records), EDEM2 (Affinity Capture-MS; 3 records), ERO1LB (Affinity Capture-MS; 3 records), FGFR1 (Affinity Capture-MS; 3 records), LRP10 (Affinity Capture-MS; 3 records), MAD2L2 (Affinity Capture-MS; 3 records), MAP4K4 (Affinity Capture-MS; 3 records), MFAP3 (Affinity Capture-MS; 3 records), NAT14 (Affinity Capture-MS; 3 records), NDFIP1 (Affinity Capture-MS; 3 records), PTPRF (Affinity Capture-MS; 3 records), PTPRS (Affinity Capture-MS; 3 records)

Disease & clinical

Genetic variants

Variant evidence for HEPACAM2: 77 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	60
Likely benign	4
Benign	2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 1,131):

Position(s)	Effect	Δscore	Sites
7:93197483–93197484	donor_loss	1.0000	5
7:93197611–93197612	acceptor_loss	1.0000	5
7:93215430	donor_gain	1.0000
7:93192252–93192253	donor_loss	0.9900	6
7:93197565	donor_gain	0.9900
7:93197615	acceptor_gain	0.9900
7:93208619	donor_gain	0.9900
7:93208887	acceptor_gain	0.9900
7:93208884	acceptor_gain	0.9800
7:93226366–93226367	donor_loss	0.9800	5

AlphaMissense

529 missense substitutions predicted likely pathogenic (of 3,035 scored), across 163 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
N223	8	0.874	0.983
F268	8	0.840	0.982
W282	7	0.978	0.995
C270	7	0.976	0.991
C315	7	0.971	0.987
C219	7	0.969	0.990
C170	7	0.967	0.990
W68	7	0.964	0.996
W182	7	0.961	0.995
N319	7	0.935	0.986
F258	7	0.886	0.968
F414	7	0.882	0.978
F98	7	0.851	0.963
D408	7	0.830	0.873
F70	7	0.784	0.876
D91	7	0.784	0.846
D116	7	0.760	0.860
P241	6	0.919	0.972
G118	6	0.914	0.976
S230	6	0.861	0.980

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Kidney Chromophobe)

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

1 prognostic cancer types:

Cancer	Prognostic	p-value
Colon Adenocarcinoma (TCGA)	favorable	0.000474

Disease associations

OMIM: gene MIM:614133 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
Tourette syndrome	No Known Disease Relationship	Unknown

Mondo (1): Tourette syndrome (MONDO:0007661)

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D005879	Tourette Syndrome	C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression	2
bisphenol F	decreases methylation	1
bisphenol A	affects cotreatment, decreases methylation	1
terbufos	decreases methylation	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Fonofos	decreases methylation	1
Lipopolysaccharides	affects cotreatment, affects response to substance, increases expression	1
Parathion	decreases methylation	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Aflatoxin M1	decreases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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

showing 60 of 485 trials:

NCT	Phase	Status	Title
NCT00152750	Phase 4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824	Phase 4	TERMINATED	Safety Study of Galantamine in Tic Disorders
NCT00241176	Phase 4	COMPLETED	Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838	Phase 4	COMPLETED	Comparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056	Phase 4	COMPLETED	Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000	Phase 4	COMPLETED	Guanfacine in Children With Tic Disorders
NCT03239210	Phase 4	COMPLETED	Effects of Ondansetron in Obsessive-compulsive and Tic Disorders
NCT00029224	Phase 4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	Phase 4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	Phase 4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	Phase 4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	Phase 4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	Phase 4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	Phase 4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	Phase 4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	Phase 4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	Phase 4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	Phase 4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	Phase 4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	Phase 4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	Phase 4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	Phase 4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	Phase 4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	Phase 4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	Phase 4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	Phase 4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	Phase 4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	Phase 4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	Phase 4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	Phase 4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	Phase 4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	Phase 4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	Phase 4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	Phase 4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	Phase 4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	Phase 4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	Phase 4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	Phase 4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	Phase 4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	Phase 4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	Phase 4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	Phase 4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	Phase 4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	Phase 4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	Phase 4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	Phase 4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	Phase 4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer
NCT01673984	Phase 4	TERMINATED	GP Extended Action Triptorelin
NCT01753297	Phase 4	COMPLETED	A Study of Immediate 9 Months Adjuvant Hormone Therapy With Triptorelin 11.25 mg Versus Active Surveillance After Radical Prostatectomy in High Risk Prostate Cancer Patients.
NCT01794793	Phase 4	COMPLETED	Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in Novartis-sponsored Studies
NCT01950871	Phase 4	TERMINATED	Prostate Guided Biopsy Study Evaluating the Diagnostic Performance of Prostate HistoScanning
NCT01995513	Phase 4	COMPLETED	Safety Study of Continued Enzalutamide Treatment In Prostate Cancer Patients
NCT02102646	Phase 4	COMPLETED	MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism
NCT02116582	Phase 4	COMPLETED	A Study to Evaluate Enzalutamide After Abiraterone in Metastatic Castration-Resistant Prostate Cancer
NCT02149628	Phase 4	COMPLETED	The Effect of Propofol Based Total Intravenous Anesthesia on Oxidative Stress and Nitric Oxide
NCT02405858	Phase 4	COMPLETED	A Study of Abiraterone Acetate in Metastatic Castration-Resistant Prostate Cancer Participants Who Responded Poorly to the First-line Combined Androgen Blockade Therapy
NCT02441517	Phase 4	TERMINATED	A Study of Enzalutamide Re-treatment in Metastatic Castration-resistant Prostate Cancer After Docetaxel and/or Cabazitaxel Treatment
NCT02441894	Phase 4	COMPLETED	Combination of Cabazitaxel With Prednisolone With Primary Prophylaxis With PEG-G-CSF in Treatment of Patients With Prostate Cancer
NCT02475057	Phase 4	COMPLETED	Endothelial Function in Prostate Cancer Patients on Degarelix vs. Luteinizing Hormone-Releasing Hormone Agonists
NCT02511665	Phase 4	UNKNOWN	Metformin And Longevity