HOXC5

Summary

HOXC5 (homeobox C5, HGNC:5127) is a protein-coding gene on chromosome 12q13.13, encoding Homeobox protein Hox-C5 (Q00444). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5’ non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn’t encode a protein. The protein-coding transcript variant contains gene-specific exons only.

Source: NCBI Gene 3222 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• MANE Select transcript: NM_018953

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5127
Approved symbol	HOXC5
Name	homeobox C5
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172789
Ensembl biotype	protein_coding
OMIM	142973
Entrez	3222

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000312492

RefSeq mRNA: 1 — MANE Select: NM_018953 NM_018953

CCDS: CCDS8872

Canonical transcript exons

ENST00000312492 — 2 exons

Exon	Start	End
ENSE00001190317	54033050	54033576
ENSE00002053096	54034278	54035361

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 80.73.

FANTOM5 (CAGE): breadth broad, TPM avg 7.2060 / max 177.2784, expressed in 702 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125857	7.2060	702
125856	1.6380	554
206727	0.1855	107
125864	0.0953	55
125866	0.0872	33
125865	0.0504	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.73	gold quality
left uterine tube	UBERON:0001303	69.29	gold quality
fallopian tube	UBERON:0003889	69.05	gold quality
right ovary	UBERON:0002118	65.64	gold quality
right uterine tube	UBERON:0001302	64.20	gold quality
ovary	UBERON:0000992	63.71	gold quality
left ovary	UBERON:0002119	63.69	gold quality
fundus of stomach	UBERON:0001160	63.63	gold quality
body of stomach	UBERON:0001161	62.28	gold quality
stomach	UBERON:0000945	59.53	gold quality
granulocyte	CL:0000094	59.42	gold quality
popliteal artery	UBERON:0002250	59.23	gold quality
tibial artery	UBERON:0007610	59.22	gold quality
tibial nerve	UBERON:0001323	59.18	gold quality
subcutaneous adipose tissue	UBERON:0002190	58.79	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	57.96	gold quality
thoracic mammary gland	UBERON:0005200	56.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	56.73	gold quality
metanephros cortex	UBERON:0010533	56.32	gold quality
lower esophagus	UBERON:0013473	56.21	gold quality
lower esophagus muscularis layer	UBERON:0035833	56.15	gold quality
cortex of kidney	UBERON:0001225	55.98	gold quality
right adrenal gland	UBERON:0001233	55.90	gold quality
adipose tissue	UBERON:0001013	55.89	gold quality
left adrenal gland cortex	UBERON:0035825	55.62	gold quality
left adrenal gland	UBERON:0001234	55.56	gold quality
esophagus	UBERON:0001043	55.34	gold quality
esophagus mucosa	UBERON:0002469	54.98	gold quality
mucosa of stomach	UBERON:0001199	54.28	gold quality
skin of leg	UBERON:0001511	54.07	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.89

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
TTF1

Upstream regulators (CollecTRI, top): HOXC6, HOXD10, HOXD11, HOXD9

miRNA regulators (miRDB)

39 targeting HOXC5, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-425-5P	99.59	67.67	900
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-6838-3P	98.40	65.88	559
HSA-MIR-211-3P	98.14	66.77	1052

Literature-anchored findings (GeneRIF, showing 3)

• The A17860G located in 3’flanking sequence of HOXC5 gene is associated with simple congenital heart disease; the haplotype of 3 SNPs may be linked with the susceptible gene of simple CHD. (PMID:16215934)
• Both mir-615-3p and HOXC5 are activated upon differentiation, which constitute a feed-forward loop that coordinates transcriptional and post-transcriptional repression of hTERT during cellular differentiation. Deregulation of HOXC5 and mir-615-3p expression may contribute to the activation of hTERT in human cancers. (PMID:29311615)
• USP11 regulates proliferation and apoptosis of human spermatogonial stem cells via HOXC5-mediated canonical WNT/beta-catenin signaling pathway. (PMID:38722330)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hoxc5a	ENSDARG00000070340
mus_musculus	Hoxc5	ENSMUSG00000022485
rattus_norvegicus	Hoxc5	ENSRNOG00000016598

Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB3 (ENSG00000120093), HOXB1 (ENSG00000120094), HOXA7 (ENSG00000122592), HOXC13 (ENSG00000123364), HOXC11 (ENSG00000123388), HOXC12 (ENSG00000123407), HOXD1 (ENSG00000128645), HOXD3 (ENSG00000128652), HOXD9 (ENSG00000128709), HOXD10 (ENSG00000128710), HOXD11 (ENSG00000128713), HOXD13 (ENSG00000128714), PDX1 (ENSG00000139515), HOXB13 (ENSG00000159184), TLX3 (ENSG00000164438), HOXD4 (ENSG00000170166), HOXD12 (ENSG00000170178), HOXB9 (ENSG00000170689), HOXB2 (ENSG00000173917), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)

Protein

Protein identifiers

Homeobox protein Hox-C5 — Q00444 (reviewed: Q00444)

Alternative names: Homeobox protein CP11, Homeobox protein Hox-3D

All UniProt accessions (1): Q00444

UniProt curated annotations — full annotation on UniProt →

Function. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subcellular location. Nucleus.

Similarity. Belongs to the Antp homeobox family.

RefSeq proteins (1): NP_061826* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR001827	Homeobox_Antennapedia_CS	Conserved_site
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR017995	Homeobox_antennapedia	Family
IPR020479	HD_metazoa	Domain
IPR050609	Antp_homeobox_Deformed_sf	Family

Pfam: PF00046

Enzyme classification (BRENDA):

• EC 2.7.11.21 — polo kinase (BRENDA: 16 organisms, 193 substrates, 436 inhibitors, 20 Km, 14 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0002–0.0076	13
CDC25C	0.0006–0.0008	6
CASEIN	0.0014	1

UniProt features (6 total): compositionally biased region 2, chain 1, DNA-binding region 1, region of interest 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q00444-F1	68.03	0.30

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 157 (showing top): RNGTGGGC_UNKNOWN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BENPORATH_ES_WITH_H3K27ME3, WWTAAGGC_UNKNOWN, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, NKX25_02, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, AACWWCAANK_UNKNOWN, SRF_Q5_01, FREAC3_01, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, USF_01, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_UP

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), anterior/posterior pattern specification (GO:0009952), embryonic skeletal system development (GO:0048706), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cell junction (GO:0030054)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription by RNA polymerase II	1
regionalization	1
skeletal system development	1
chordate embryonic development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
nucleic acid binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1

Protein interactions and networks

STRING

772 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOXC5	ISL1	P20663	609
HOXC5	HOXC12	P31275	567
HOXC5	HOXC13	P31276	546
HOXC5	CITED2	Q99967	545
HOXC5	HOXC11	O43248	480
HOXC5	POU3F1	Q03052	463
HOXC5	PCGF2	P35227	436
HOXC5	E4F1	Q66K89	424
HOXC5	R4GMX3	R4GMX3	424
HOXC5	BMI1	P35226	422
HOXC5	FGF5	P12034	404
HOXC5	A0A3B3IT14	A0A3B3IT14	395
HOXC5	FOXP1	Q9H334	395
HOXC5	LHX3	Q9UBR4	372
HOXC5	CDKN3	Q16667	357

IntAct

38 interactions, top by confidence:

A	B	Type	Score
POLR2G	HOXC5	psi-mi:“MI:0915”(physical association)	0.600
HOXC5	POLR2G	psi-mi:“MI:0915”(physical association)	0.600
POU6F2	HOXC5	psi-mi:“MI:0915”(physical association)	0.560
PBX2	HOXC5	psi-mi:“MI:0915”(physical association)	0.560
HOXC5	LHX4	psi-mi:“MI:0915”(physical association)	0.560
HOXC5	DVL3	psi-mi:“MI:0915”(physical association)	0.560
HOXC5	LHX3	psi-mi:“MI:0915”(physical association)	0.560
PBX1	HOXC5	psi-mi:“MI:0915”(physical association)	0.560
CTBP2	HOXC5	psi-mi:“MI:0915”(physical association)	0.560
HOXC5	ZBTB16	psi-mi:“MI:0915”(physical association)	0.560
HOXC5	PBX4	psi-mi:“MI:0915”(physical association)	0.560
HOXC5	GORASP2	psi-mi:“MI:0915”(physical association)	0.560
	HOXC5	psi-mi:“MI:0915”(physical association)	0.370
HOXC5	PDLIM1	psi-mi:“MI:0914”(association)	0.350
HOXC5	POU6F2	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	PBX2	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	LHX4	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	DVL3	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	LHX3	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	PBX1	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	CTBP2	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	ZBTB16	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	GORASP2	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	PBX4	psi-mi:“MI:0915”(physical association)	0.000
HOXC5	POLR2G	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (45): HOXC5 (Two-hybrid), HOXC5 (Two-hybrid), HOXC5 (Two-hybrid), HOXC5 (Two-hybrid), HOXC5 (Two-hybrid), HOXC5 (Two-hybrid), HOXC5 (Two-hybrid), HOXC5 (Two-hybrid), CTBP2 (Two-hybrid), PBX1 (Two-hybrid), PBX2 (Two-hybrid), HOXC5 (Affinity Capture-RNA), HDLBP (Affinity Capture-MS), SBDS (Affinity Capture-MS), FTO (Affinity Capture-MS)

ESM2 similar proteins: A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG85, A2D4P8, A2D4R4, A2D5I1, A2D649, A2T6H5, A2T6X6, A2T748, A2T756, A2T7H5, A6NCS4, A6NJ46, O35137, O43248, P06798, P09016, P09017, P09023, P10284, P10628, P13378, P17277, P17278, P17483, P17509, P18864, P23463, P31259, P31274, P31275, P31276, P31310, P31313, P47902, P50207, P52945

Diamond homologs: A1L2P5, A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG85, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T756, A8DT10, A9L937, B0VXK3, O13074, O42365, O42367, O42368, O42370, O43364, O43365, O57374, O93353, P02830, P02831, P06798, P09013, P09014, P09016, P09019, P09020, P09021, P09026, P09027, P09067, P09070, P09074, P09079, P09080

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 12 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
animal organ morphogenesis	5	79.8×	3e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

314 predictions. Top by Δscore:

Variant	Effect	Δscore
12:54034453:G:GT	donor_gain	0.9800
12:54034276:A:AG	acceptor_gain	0.9700
12:54034277:G:GG	acceptor_gain	0.9700
12:54034447:G:GT	donor_gain	0.9700
12:54034444:G:GT	donor_gain	0.9600
12:54034277:GA:G	acceptor_gain	0.9300
12:54034272:TTCCA:T	acceptor_loss	0.9200
12:54034273:TCCA:T	acceptor_loss	0.9200
12:54034274:CCAGA:C	acceptor_loss	0.9200
12:54034275:CA:C	acceptor_loss	0.9200
12:54034276:A:C	acceptor_loss	0.9200
12:54034277:G:GA	acceptor_loss	0.9200
12:54034277:GAGAC:G	acceptor_gain	0.9200
12:54033572:CCACG:C	donor_loss	0.9100
12:54033573:CACG:C	donor_loss	0.9100
12:54033575:CGGTA:C	donor_loss	0.9100
12:54033578:T:G	donor_loss	0.9100
12:54034271:GTTCC:G	acceptor_loss	0.9100
12:54033579:A:C	donor_loss	0.8900
12:54033457:C:G	donor_gain	0.8800
12:54034451:TGG:T	donor_gain	0.8800
12:54034484:GCTCT:G	donor_gain	0.8800
12:54034277:G:C	acceptor_gain	0.8700
12:54033299:C:CA	acceptor_gain	0.8600
12:54034081:GGAA:G	donor_gain	0.8500
12:54033300:G:A	acceptor_gain	0.8400
12:54033577:G:GG	donor_gain	0.8400
12:54034275:CAG:C	acceptor_gain	0.8300
12:54034276:AGA:A	acceptor_gain	0.8300
12:54034270:T:G	acceptor_gain	0.8200

AlphaMissense

1464 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:54033549:T:A	W143R	1.000
12:54033549:T:C	W143R	1.000
12:54033551:G:C	W143C	1.000
12:54033551:G:T	W143C	1.000
12:54033553:T:C	M144T	1.000
12:54034298:C:G	R159G	1.000
12:54034307:T:C	Y162H	1.000
12:54034307:T:G	Y162D	1.000
12:54034308:A:G	Y162C	1.000
12:54034321:G:C	Q166H	1.000
12:54034321:G:T	Q166H	1.000
12:54034326:T:C	L168P	1.000
12:54034331:C:T	L170F	1.000
12:54034332:T:A	L170H	1.000
12:54034332:T:C	L170P	1.000
12:54034332:T:G	L170R	1.000
12:54034334:G:A	E171K	1.000
12:54034335:A:T	E171V	1.000
12:54034336:G:C	E171D	1.000
12:54034336:G:T	E171D	1.000
12:54034338:A:T	K172I	1.000
12:54034340:G:A	E173K	1.000
12:54034343:T:A	F174I	1.000
12:54034343:T:C	F174L	1.000
12:54034343:T:G	F174V	1.000
12:54034344:T:C	F174S	1.000
12:54034344:T:G	F174C	1.000
12:54034345:C:A	F174L	1.000
12:54034345:C:G	F174L	1.000
12:54034346:C:G	H175D	1.000

dbSNP variants (sampled 300 via entrez): RS1000059230 (12:54014986 G>A), RS1000137595 (12:54028295 T>G), RS1000191769 (12:54028030 C>G), RS1000269134 (12:54022527 T>C), RS1000396997 (12:54033853 G>A,C), RS1000413505 (12:54015245 T>C), RS1000563189 (12:54017488 T>C,G), RS1000712272 (12:54031698 G>A,T), RS1000764885 (12:54031501 T>A), RS1000801908 (12:54017266 T>A), RS1000836494 (12:54020350 T>C), RS1000873736 (12:54034219 C>A,T), RS1001397497 (12:54025866 A>C), RS1001439680 (12:54034180 C>A,T), RS1001521503 (12:54033461 G>A,C)

Disease associations

OMIM: gene MIM:142973 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST004063_14	Waist circumference adjusted for body mass index	5.000000e-10
GCST004063_20	Waist circumference adjusted for body mass index	2.000000e-18
GCST004063_74	Waist circumference adjusted for body mass index	2.000000e-11
GCST004500_108	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	4.000000e-14
GCST004500_41	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	6.000000e-11
GCST004500_53	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	2.000000e-06
GCST004501_90	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	3.000000e-14
GCST004501_91	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	9.000000e-11
GCST004501_92	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	5.000000e-06
GCST004504_64	Waist circumference adjusted for BMI in non-smokers	1.000000e-12
GCST004504_65	Waist circumference adjusted for BMI in non-smokers	6.000000e-10
GCST004562_112	Waist circumference adjusted for body mass index	1.000000e-08
GCST004562_146	Waist circumference adjusted for body mass index	5.000000e-13
GCST004562_234	Waist circumference adjusted for body mass index	2.000000e-08
GCST004562_42	Waist circumference adjusted for body mass index	2.000000e-14
GCST004562_59	Waist circumference adjusted for body mass index	6.000000e-07
GCST004563_128	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	4.000000e-13
GCST004563_16	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	1.000000e-06
GCST004563_197	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	4.000000e-08
GCST004563_207	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	8.000000e-08
GCST004563_23	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	3.000000e-12
GCST004563_47	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	9.000000e-09
GCST004564_208	Waist circumference adjusted for BMI in active individuals	5.000000e-07
GCST004564_209	Waist circumference adjusted for BMI in active individuals	3.000000e-08
GCST004564_210	Waist circumference adjusted for BMI in active individuals	2.000000e-12
GCST004564_211	Waist circumference adjusted for BMI in active individuals	4.000000e-10
GCST005956_70	Waist-to-hip ratio adjusted for BMI	4.000000e-13
GCST005957_6	Waist-to-hip ratio adjusted for BMI (age <50)	6.000000e-06
GCST005958_9	Waist-to-hip ratio adjusted for BMI (age >50)	1.000000e-08
GCST005962_20	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	7.000000e-13

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction 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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression	2
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	increases expression	1
ferrous chloride	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	decreases methylation	1
Asbestos, Amosite	decreases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A2Z6	SEES3-1V human HOXC5, clone1	Embryonic stem cell	Male
CVCL_A2Z7	SEES3-1V human HOXC5, clone2	Embryonic stem cell	Male
CVCL_A2Z8	SEES3-1V human HOXC5, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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