CD164

Summary

CD164 (CD164 molecule, HGNC:1632) is a protein-coding gene on chromosome 6q21, encoding Sialomucin core protein 24 (Q04900). Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation.

This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing.

Source: NCBI Gene 8763 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant nonsyndromic hearing loss (Moderate, ClinGen) — +1 more curated relationship
• GWAS associations: 30
• Clinical variants (ClinVar): 143 total
• Phenotypes (HPO): 6
• MANE Select transcript: NM_006016

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1632
Approved symbol	CD164
Name	CD164 molecule
Location	6q21
Locus type	gene with protein product
Status	Approved
Aliases	MUC-24, MGC-24, DFNA66, MGC-24v
Ensembl gene	ENSG00000135535
Ensembl biotype	protein_coding
OMIM	603356
Entrez	8763

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000275080, ENST00000310786, ENST00000324953, ENST00000413644, ENST00000415861, ENST00000499860, ENST00000504373, ENST00000506649, ENST00000512212, ENST00000512821, ENST00000864382, ENST00000864383, ENST00000864384, ENST00000928088, ENST00000928089

RefSeq mRNA: 6 — MANE Select: NM_006016 NM_001142401, NM_001142402, NM_001142403, NM_001142404, NM_001346500, NM_006016

CCDS: CCDS47462, CCDS47463, CCDS47464, CCDS47465, CCDS5073, CCDS87430

Canonical transcript exons

ENST00000310786 — 6 exons

Exon	Start	End
ENSE00002047863	109366514	109369017
ENSE00003487174	109377900	109377971
ENSE00003602832	109379579	109379662
ENSE00003676163	109376074	109376112
ENSE00003694639	109370411	109370467
ENSE00003829904	109382204	109382467

Expression profiles

Bgee: expression breadth ubiquitous, 303 present calls, max score 99.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 191.0563 / max 1203.5688, expressed in 1828 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74992	91.6568	1828
74994	61.1323	1826
74993	34.8668	1818
204146	2.5681	1452
74990	0.4085	124
74991	0.1983	80
74995	0.1369	54
74988	0.0671	30
74989	0.0216	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of sigmoid colon	UBERON:0004993	99.70	gold quality
bronchial epithelial cell	CL:0002328	99.67	gold quality
colonic mucosa	UBERON:0000317	99.65	gold quality
epithelium of bronchus	UBERON:0002031	99.45	gold quality
nephron tubule	UBERON:0001231	99.44	gold quality
bronchus	UBERON:0002185	99.41	gold quality
secondary oocyte	CL:0000655	99.31	gold quality
skin of hip	UBERON:0001554	99.30	gold quality
mammary duct	UBERON:0001765	99.29	gold quality
rectum	UBERON:0001052	99.28	gold quality
kidney epithelium	UBERON:0004819	99.26	gold quality
epithelium of nasopharynx	UBERON:0001951	99.22	gold quality
renal glomerulus	UBERON:0000074	99.20	gold quality
nasopharynx	UBERON:0001728	99.20	gold quality
epithelium of mammary gland	UBERON:0003244	99.20	gold quality
upper leg skin	UBERON:0004262	99.18	gold quality
corpus epididymis	UBERON:0004359	99.17	gold quality
cauda epididymis	UBERON:0004360	99.16	gold quality
metanephric glomerulus	UBERON:0004736	99.15	gold quality
caput epididymis	UBERON:0004358	99.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.14	gold quality
nasal cavity mucosa	UBERON:0001826	99.12	gold quality
parotid gland	UBERON:0001831	99.12	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.11	gold quality
nasal cavity epithelium	UBERON:0005384	99.11	gold quality
jejunal mucosa	UBERON:0000399	99.09	gold quality
thoracic mammary gland	UBERON:0005200	99.09	gold quality
tibia	UBERON:0000979	99.08	gold quality
mammary gland	UBERON:0001911	99.06	gold quality
germinal epithelium of ovary	UBERON:0001304	99.01	gold quality

Single-cell (SCXA)

Detected in 19 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	2426.73
E-MTAB-5061	yes	1478.41
E-HCAD-6	yes	408.85
E-HCAD-4	yes	71.45
E-HCAD-10	yes	30.06
E-GEOD-125970	yes	22.52
E-CURD-112	yes	15.67
E-HCAD-1	yes	14.48
E-MTAB-10042	yes	14.14
E-CURD-46	yes	13.74
E-MTAB-8498	yes	12.27
E-CURD-114	yes	11.56
E-GEOD-93593	yes	7.35
E-GEOD-76312	no	3963.43
E-MTAB-10432	no	961.16

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, HIF1A, JUN

miRNA regulators (miRDB)

195 targeting CD164, 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-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4715-3P	99.98	66.03	670
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AT-5P	99.96	70.83	2666

Literature-anchored findings (GeneRIF, showing 22)

• Review article on structure and function of CD164. (PMID:11862985)
• Data identify CD13, CD107a, and CD164 as novel basophil-activation antigens. (PMID:15916720)
• CD164 may participate in the localization of prostate cancer cells to the marrow and is further evidence that tumor metastasis and hematopoietic stem cell trafficking may involve similar processes (PMID:16859559)
• Results demonstrate that endolyn is an evolutionarily conserved sialomucin fundamentally involved in cell proliferation in both the human and Drosophila melanogaster. (PMID:16924678)
• sialomucin endolyn (CD164), an adhesion receptor that regulates the adhesion of CD34+ cells to bone marrow stroma and the recruitment of CD34+CD38(lo/-) cells into cycle, associates with CXCR4 (PMID:17077324)
• Conclude that assessment of allergen-induced basophil CD164 upregulation is a very useful method for in vitro determination of allergy to grass pollens. (PMID:20872290)
• C-jun and HIF-1alpha bound to the CD164 promoter region and activated the CD164 expression. (PMID:21999799)
• CD164 is highly expressed in the colon cancer sites, and it promotes HCT116 colon cancer cell proliferation and metastasis both in vitro and in vivo (PMID:22409183)
• Increased expression of CD164 is involved in ovarian cancer progression via the SDF-1alpha/CXCR4 axis. (PMID:24094005)
• miR-219 inhibits the proliferation, migration and invasion of medulloblastoma cells by targeting CD164. (PMID:24756834)
• This paper identified a new Deafness, Autosomal Dominant locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment. (PMID:26197441)
• In a cohort of patients with Sezary syndrome, CD164 expression on total CD4+ lymphocytes was significantly upregulated compared with healthy controls. CD164 expression was in most cases limited to CD4+CD26- malignant T lymphocytes. (PMID:26524186)
• The expression of Sezary signature genes: FCRL3, Tox, and miR-214, was significantly higher in samples from Sezary syndrome patients with CD164 expressing CD4(+) T cells. (PMID:27766406)
• CD164 expression may have affected the proliferation and apoptosis of human glioma cells via the PTEN/phosphoinositide 3-kinase/AKT pathway. (PMID:28259931)
• CD164 was associated with the poor clinical outcomes of BC patients. Silencing of CD164 could inhibit the progression of tumors in vivo and in vitro, which may become an effective target in the treatment of bladder cancer. (PMID:30022623)
• CD164 is expressed by cells that are multipotent until just beyond the first erythroid-megakaryocyte progenitors/lymphoid-myeloid progenitors branch point. (PMID:31160568)
• miR-219a-5p enhances the radiosensitivity of non-small cell lung cancer cells through targeting CD164. (PMID:32364222)
• Long non-coding RNA LINC00152/miR-613/CD164 axis regulates cell proliferation, apoptosis, migration and invasion in glioma via PI3K/AKT pathway. (PMID:32726126)
• RP11619L19.2 promotes colon cancer development by regulating the miR12715p/CD164 axis. (PMID:33125110)
• CD164 is a host factor for lymphocytic choriomeningitis virus entry. (PMID:35235462)
• Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss. (PMID:35254497)
• Genome-Wide Knockout Screen Identifies Human Sialomucin CD164 as an Essential Entry Factor for Lymphocytic Choriomeningitis Virus. (PMID:35502904)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cd164	ENSDARG00000013628
mus_musculus	Cd164	ENSMUSG00000019818
rattus_norvegicus	Cd164	ENSRNOG00000000304
drosophila_melanogaster	vsg	FBGN0045823

Paralogs (2): TMEM123 (ENSG00000152558), CD164L2 (ENSG00000174950)

Protein

Protein identifiers

Sialomucin core protein 24 — Q04900 (reviewed: Q04900)

Alternative names: Endolyn, Multi-glycosylated core protein 24

All UniProt accessions (2): Q04900, D6R9B4

UniProt curated annotations — full annotation on UniProt →

Function. Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes.

Subunit / interactions. Homodimer (isoform 4). Interacts with CXCR4.

Subcellular location. Lysosome membrane. Endosome membrane. Cell membrane Secreted.

Tissue specificity. Isoform 1 and isoform 3 are expressed in hematopoietic and non-hematopoietic tissues. Isoform 1 is expressed by prostate cancer tumors and prostate cancer cell lines. The expression is greater in bone metastases than in primary tumors. Expression in osseous metastasis is greater than that in soft tissue metastasis. Isoform 2 is expressed in the small intestine, colon, lung, thyroid and in colorectal and pancreatic adenocarcinoma. Isoform 4 is expressed by both hematopoietic progenitor cells and bone marrow stromal cells.

Post-translational modifications. Highly N- and O-glycosylated; contains sialic acid. The motif Ser-Gly may serve as the site of attachment of a glycosaminoglycan side chain.

Disease relevance. Deafness, autosomal dominant, 66 (DFNA66) [MIM:616969] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.

Induction. Up-regulated by CXCL12 in prostate cancer cell lines.

Similarity. Belongs to the CD164 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q04900-1	1, CD164(E1-6)	yes
Q04900-2	2
Q04900-3	3, CD164(Delta 4)
Q04900-4	4, CD164(Delta 5)
Q04900-5	5

RefSeq proteins (6): NP_001135873, NP_001135874, NP_001135875, NP_001135876, NP_001333429, NP_006007* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007947	CD164_MGC24	Family

Pfam: PF05283

UniProt features (23 total): glycosylation site 10, splice variant 5, topological domain 2, region of interest 2, signal peptide 1, chain 1, transmembrane region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q04900-F1	67.15	0.12

Functional residue map

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

Glycosylation sites (10): 41, 72, 77, 94, 104, 121, 142, 146, 26, 32

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 321 (showing top): MODULE_97, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_VACUOLAR_MEMBRANE, HSIAO_HOUSEKEEPING_GENES, KEGG_LYSOSOME, MODULE_182, GGCNKCCATNK_UNKNOWN, GOBP_CELL_CELL_ADHESION, GTGCCTT_MIR506, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, USF_01, DER_IFN_BETA_RESPONSE_UP, SCHLOSSER_SERUM_RESPONSE_DN

GO Biological Process (7): immune response (GO:0006955), cell adhesion (GO:0007155), heterophilic cell-cell adhesion (GO:0007157), negative regulation of cell adhesion (GO:0007162), signal transduction (GO:0007165), muscle organ development (GO:0007517), hemopoiesis (GO:0030097)

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

GO Cellular Component (7): extracellular region (GO:0005576), lysosome (GO:0005764), lysosomal membrane (GO:0005765), endosome (GO:0005768), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
cellular anatomical structure	2
immune system process	1
response to stimulus	1
cell-cell adhesion	1
cell adhesion	1
regulation of cell adhesion	1
negative regulation of cellular process	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
animal organ development	1
muscle structure development	1
cell development	1
binding	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
endomembrane system	1
cytoplasmic vesicle	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

872 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD164	CXCR4	P30991	745
CD164	PROM1	O43490	668
CD164	ITGA5	P08648	623
CD164	CD34	P28906	618
CD164	ITGA4	P13612	598
CD164	CXCL12	P48061	582
CD164	ICAM1	P05362	497
CD164	ITGA3	P26006	493
CD164	SPN	P16150	490
CD164	PRKCZ	Q05513	484
CD164	SCARB2	Q14108	483
CD164	CD36	P16671	478
CD164	SCARB1	Q8WTV0	473
CD164	PDPN	Q86YL7	450
CD164	FN1	P02751	442

IntAct

22 interactions, top by confidence:

A	B	Type	Score
	CD164	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	CD164	psi-mi:“MI:0915”(physical association)	0.560
CD164		psi-mi:“MI:0915”(physical association)	0.560
CD164	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	CD164	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	CD164	psi-mi:“MI:0915”(physical association)	0.560
CXCR4	CD164	psi-mi:“MI:0915”(physical association)	0.500
HSCB	CD164	psi-mi:“MI:0915”(physical association)	0.370
CD164	ACKR3	psi-mi:“MI:0914”(association)	0.350
CD164	RAB11A	psi-mi:“MI:0403”(colocalization)	0.270
GRB2	CD164	psi-mi:“MI:0915”(physical association)	0.000
CD164	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
CD164	HOXA1	psi-mi:“MI:0915”(physical association)	0.000
CD164	rhlE	psi-mi:“MI:0915”(physical association)	0.000
CD164	malC	psi-mi:“MI:0915”(physical association)	0.000
	CD164	psi-mi:“MI:0915”(physical association)	0.000
CD164	ANKRD28	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), CD164 (Two-hybrid), NOTCH2NL (Two-hybrid), NBPF19 (Two-hybrid), CD164 (Two-hybrid), CD164 (Affinity Capture-RNA), CD164 (Affinity Capture-RNA), CD164 (Two-hybrid), CD164 (Affinity Capture-RNA)

ESM2 similar proteins: A5D7U1, O00592, O57604, P03224, P14844, P15702, P28906, P34810, P38565, P97808, P97881, Q04900, Q1LVN1, Q28270, Q2YDH0, Q5F3A4, Q5HZB0, Q5HZW7, Q5RFI9, Q5W9T8, Q5XI99, Q62011, Q64294, Q64314, Q66676, Q6P9X9, Q6R8J2, Q86YL7, Q8BH27, Q8C6Z1, Q8K2J7, Q8MI01, Q8MJJ2, Q8N131, Q8VEN2, Q90617, Q91Z22, Q923D3, Q95152, Q9D7S0

Diamond homologs: Q04900, Q2YDH0, Q6UWJ8, Q9D6W7, Q9QX82, Q9R0L9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	46
Benign	30

Top pathogenic / likely-pathogenic (0)

SpliceAI

799 predictions. Top by Δscore:

Variant	Effect	Δscore
6:109376069:ATTAC:A	donor_loss	1.0000
6:109376070:TTAC:T	donor_loss	1.0000
6:109376071:TAC:T	donor_loss	1.0000
6:109376073:CCT:C	donor_loss	1.0000
6:109376108:GGAAA:G	acceptor_gain	1.0000
6:109376109:GAAA:G	acceptor_gain	1.0000
6:109376111:AA:A	acceptor_gain	1.0000
6:109376112:AC:A	acceptor_loss	1.0000
6:109376113:C:CC	acceptor_gain	1.0000
6:109376113:C:CG	acceptor_loss	1.0000
6:109376114:T:C	acceptor_loss	1.0000
6:109376116:T:C	acceptor_gain	1.0000
6:109376116:T:TC	acceptor_gain	1.0000
6:109377894:ACTT:A	donor_loss	1.0000
6:109377895:CTTA:C	donor_loss	1.0000
6:109377967:CTCAT:C	acceptor_gain	1.0000
6:109377969:CAT:C	acceptor_gain	1.0000
6:109377971:TC:T	acceptor_loss	1.0000
6:109377972:C:CC	acceptor_gain	1.0000
6:109377972:CTGTT:C	acceptor_loss	1.0000
6:109377973:T:G	acceptor_loss	1.0000
6:109377983:C:CT	acceptor_gain	1.0000
6:109377984:A:T	acceptor_gain	1.0000
6:109379671:T:C	acceptor_gain	1.0000
6:109379671:T:TC	acceptor_gain	1.0000
6:109382200:CCA:C	donor_loss	1.0000
6:109382201:CACCT:C	donor_loss	1.0000
6:109382202:ACCTG:A	donor_loss	1.0000
6:109382203:C:G	donor_loss	1.0000
6:109369657:T:C	donor_gain	0.9900

AlphaMissense

1250 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:109368887:G:C	F186L	0.999
6:109368887:G:T	F186L	0.999
6:109368889:A:G	F186L	0.999
6:109368940:C:G	G169R	0.999
6:109368940:C:T	G169R	0.999
6:109368947:G:C	F166L	0.999
6:109368947:G:T	F166L	0.999
6:109368949:A:G	F166L	0.999
6:109368950:A:C	S165R	0.999
6:109368950:A:T	S165R	0.999
6:109368952:T:G	S165R	0.999
6:109368962:A:C	F161L	0.999
6:109368962:A:T	F161L	0.999
6:109368963:A:C	F161C	0.999
6:109368964:A:G	F161L	0.999
6:109368922:C:G	G175R	0.998
6:109368930:A:G	L172P	0.998
6:109368933:A:T	V171D	0.998
6:109368942:C:T	G168E	0.998
6:109368945:A:T	I167N	0.998
6:109368921:C:T	G175D	0.997
6:109368930:A:T	L172Q	0.997
6:109368939:C:T	G169E	0.997
6:109368943:C:G	G168R	0.997
6:109368943:C:T	G168R	0.997
6:109368948:A:G	F166S	0.997
6:109368864:T:C	Y194C	0.996
6:109368948:A:C	F166C	0.996
6:109368876:T:A	K190I	0.995
6:109368888:A:C	F186C	0.995

dbSNP variants (sampled 300 via entrez): RS1000223842 (6:109374232 C>A), RS1000253734 (6:109378182 T>C,G), RS1000262270 (6:109381730 C>T), RS1000294827 (6:109381407 A>C,G), RS1000426506 (6:109383124 TCAC>T), RS1000503074 (6:109377191 T>A,G), RS1000594950 (6:109382470 G>A,C,T), RS1000621062 (6:109367185 A>G), RS1000625903 (6:109382313 G>C,T), RS1000960531 (6:109372044 A>G), RS1001105858 (6:109371483 C>G), RS1001232786 (6:109367065 A>G), RS1001409901 (6:109373197 T>C), RS1001480283 (6:109378703 G>A), RS1001480564 (6:109377435 T>C)

Disease associations

OMIM: gene MIM:603356 | disease phenotypes: MIM:616969

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant nonsyndromic hearing loss	Supportive	Autosomal dominant
autosomal dominant nonsyndromic hearing loss 66	Limited	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
autosomal dominant nonsyndromic hearing loss	Moderate	AD

Mondo (2): autosomal dominant nonsyndromic hearing loss 66 (MONDO:0014854), autosomal dominant nonsyndromic hearing loss (MONDO:0019587)

Orphanet (1): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635)

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0001751	Abnormal vestibular function
HP:0003577	Congenital onset
HP:0011462	Young adult onset
HP:0011463	Childhood onset

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST000175_27	Height	4.000000e-06
GCST000503_7	Mean corpuscular volume	4.000000e-10
GCST000585_15	Mean corpuscular volume	3.000000e-08
GCST000587_15	Mean corpuscular hemoglobin	1.000000e-08
GCST000588_7	Red blood cell count	7.000000e-09
GCST001873_7	Red blood cell traits	1.000000e-08
GCST004004_16	Mean corpuscular volume	3.000000e-06
GCST004004_37	Mean corpuscular volume	6.000000e-17
GCST004006_20	Mean corpuscular hemoglobin	8.000000e-21
GCST004006_6	Mean corpuscular hemoglobin	7.000000e-08
GCST004008_16	Red blood cell count	2.000000e-07
GCST004008_6	Red blood cell count	1.000000e-08
GCST004283_12	Midgestational circulating levels of PCBs	1.000000e-06
GCST004283_15	Midgestational circulating levels of PCBs	4.000000e-07
GCST004283_18	Midgestational circulating levels of PCBs	1.000000e-07
GCST004283_20	Midgestational circulating levels of PCBs	4.000000e-06
GCST004283_21	Midgestational circulating levels of PCBs	3.000000e-06
GCST004283_22	Midgestational circulating levels of PCBs	7.000000e-07
GCST004283_3	Midgestational circulating levels of PCBs	4.000000e-07
GCST004283_4	Midgestational circulating levels of PCBs	1.000000e-07
GCST004608_33	Granulocyte percentage of myeloid white cells	1.000000e-11
GCST004748_49	Lung cancer	3.000000e-06
GCST005976_18	White blood cell count (basophil)	4.000000e-10
GCST005993_33	Mean corpuscular hemoglobin	8.000000e-25
GCST005996_23	Red blood cell count	1.000000e-14
GCST006011_65	Mean corpuscular volume	3.000000e-23
GCST008839_349	Height	2.000000e-09
GCST009066_36	Mosaic loss of chromosome Y (Y chromosome dosage)	3.000000e-11
GCST009067_27	Mosaic loss of chromosome Y (Y chromosome dosage)	2.000000e-30
GCST90000025_65	Appendicular lean mass	5.000000e-36

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0007042	polychlorinated biphenyls measurement
EFO:0007964	gestational serum measurement
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0005090	basophil count
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	affects cotreatment, increases expression	2
Allergens	decreases expression, increases expression, decreases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
sodium arsenite	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Dasatinib	increases expression, decreases expression, decreases reaction	1
Temozolomide	decreases expression	1
Arsenic Trioxide	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Aerosols	decreases expression	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	decreases expression	1
Dust	decreases expression	1
Estradiol	increases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects expression	1
Lead	affects methylation	1

Cellosaurus cell lines

5 cell lines: 2 transformed cell line, 2 cancer cell line, 1 factor-dependent cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2TR	Abcam HEK293T CD164 KO	Transformed cell line	Female
CVCL_C8H5	FDCP1-2A5	Factor-dependent cell line
CVCL_D7M1	Ubigene A-549 CD164 KO	Cancer cell line	Male
CVCL_D9BG	Ubigene HEK293 CD164 KO	Transformed cell line	Female
CVCL_E1T8	HAP1 CD164 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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