CREB5

Summary

CREB5 (cAMP responsive element binding protein 5, HGNC:16844) is a protein-coding gene on chromosome 7p15.1-p14.3, encoding Cyclic AMP-responsive element-binding protein 5 (Q02930). Binds to the cAMP response element and activates transcription.

The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 9586 — RefSeq curated summary.

At a glance

• GWAS associations: 71
• Clinical variants (ClinVar): 80 total
• Transcription factor: yes — 12 downstream targets (CollecTRI)
• MANE Select transcript: NM_182898

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16844
Approved symbol	CREB5
Name	cAMP responsive element binding protein 5
Location	7p15.1-p14.3
Locus type	gene with protein product
Status	Approved
Aliases	H_GS165L15.1, CRE-BPA
Ensembl gene	ENSG00000146592
Ensembl biotype	protein_coding
OMIM	618262
Entrez	9586

Gene structure

Transcript identifiers

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

ENST00000357727, ENST00000396298, ENST00000396299, ENST00000396300, ENST00000409603, ENST00000424599, ENST00000426500, ENST00000461921, ENST00000468391, ENST00000468813, ENST00000469531, ENST00000478078, ENST00000482692, ENST00000484383, ENST00000498316, ENST00000952366

RefSeq mRNA: 4 — MANE Select: NM_182898 NM_001011666, NM_004904, NM_182898, NM_182899

CCDS: CCDS43562, CCDS43563, CCDS5417, CCDS5418

Canonical transcript exons

ENST00000357727 — 11 exons

Exon	Start	End
ENSE00000976489	28570365	28570537
ENSE00001085133	28818071	28818179
ENSE00001085134	28809187	28809414
ENSE00001085136	28804199	28804522
ENSE00001325470	28819116	28825894
ENSE00002294890	28412518	28412917
ENSE00003473727	28507616	28507737
ENSE00003559476	28724222	28724332
ENSE00003568702	28494906	28494999
ENSE00003640174	28718753	28718879
ENSE00003641917	28488175	28488246

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.1709 / max 2633.3419, expressed in 1532 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77862	20.3783	1346
77841	6.8173	1164
77861	1.8777	409
77842	1.2777	538
77843	0.4939	221
77863	0.3079	140
77853	0.2965	25
77844	0.2950	116
77845	0.1097	42
77860	0.0949	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
synovial joint	UBERON:0002217	98.83	gold quality
ventricular zone	UBERON:0003053	94.82	gold quality
blood	UBERON:0000178	94.68	gold quality
corpus callosum	UBERON:0002336	94.07	gold quality
tendon of biceps brachii	UBERON:0008188	94.03	gold quality
monocyte	CL:0000576	91.38	gold quality
inferior vagus X ganglion	UBERON:0005363	91.19	gold quality
mononuclear cell	CL:0000842	90.57	gold quality
layer of synovial tissue	UBERON:0007616	90.10	gold quality
leukocyte	CL:0000738	89.94	gold quality
medial globus pallidus	UBERON:0002477	89.02	gold quality
globus pallidus	UBERON:0001875	88.85	gold quality
cartilage tissue	UBERON:0002418	87.98	gold quality
saphenous vein	UBERON:0007318	87.62	gold quality
sural nerve	UBERON:0015488	87.59	gold quality
endothelial cell	CL:0000115	87.42	gold quality
tendon	UBERON:0000043	87.40	gold quality
ganglionic eminence	UBERON:0004023	87.32	gold quality
subthalamic nucleus	UBERON:0001906	87.21	gold quality
oocyte	CL:0000023	86.46	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.23	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.06	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.93	gold quality
lateral globus pallidus	UBERON:0002476	85.73	gold quality
calcaneal tendon	UBERON:0003701	85.43	gold quality
apex of heart	UBERON:0002098	85.15	gold quality
omental fat pad	UBERON:0010414	85.00	gold quality
peritoneum	UBERON:0002358	84.95	gold quality
adipose tissue of abdominal region	UBERON:0007808	84.58	gold quality
secondary oocyte	CL:0000655	84.55	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	1662.10
E-MTAB-8894	yes	1235.04
E-GEOD-75140	yes	980.06
E-GEOD-98556	yes	461.07
E-GEOD-100618	yes	229.06
E-HCAD-35	yes	87.44
E-MTAB-7008	yes	52.26
E-HCAD-5	yes	48.82
E-HCAD-10	yes	32.01
E-GEOD-93593	yes	16.24
E-ENAD-27	yes	6.31
E-CURD-112	yes	5.67
E-MTAB-6386	no	2.83
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

12 targets.

Target	Regulation
ATP6V0E1	Activation
CFB	Activation
DGKG	Activation
LGALS3BP	Repression
LY96	Repression
MAPKAPK3	Activation
MX1	Activation
RASGRP3	Repression
RDX	Repression
STAT1	Repression
TGFBR3	Activation
TNFRSF11B	Repression

Upstream regulators (CollecTRI, top): MYCN

miRNA regulators (miRDB)

383 targeting CREB5, 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-8485	100.00	77.57	4731
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548N	99.98	71.94	4170

Literature-anchored findings (GeneRIF, showing 22)

• CREB5 accelerate the metastasis of colorectal cancer by regulating these five key genes. (PMID:25076032)
• LOC401317 is directly regulated by p53. Ectopic expression of LOC401317 inhibits HNE2 cell proliferation in vitro and in vivo. (PMID:25422887)
• The results indicated that epigenetically regulated miR-449a targets CREB5 to increase FXRalpha expression, thereby promoting HBV replication and gene expression. Our findings provide a new understanding of the role of miRNAs in HBV replication (PMID:27138288)
• High CREB5 expression is associated with triple-negative breast cancer. (PMID:28160548)
• These data highlights a role of CREB5 involved in the pathogenesis of recurrent pregnancy loss. (PMID:30100398)
• High CREB5 expression is associated with proliferation, metastasis and migration of colorectal cancer. (PMID:30395767)
• CREB5 Promotes Resistance to Androgen-Receptor Antagonists and Androgen Deprivation in Prostate Cancer. (PMID:31747605)
• Genome-wide transcriptome analysis identifies novel dysregulated genes implicated in Alzheimer’s pathology. (PMID:32755048)
• CREB5 promotes invasiveness and metastasis in colorectal cancer by directly activating MET. (PMID:32843066)
• Identification of a Novel Genetic Marker for Risk of Degenerative Rotator Cuff Disease Surgery in the UK Biobank. (PMID:33979311)
• Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia. (PMID:34197731)
• CREB5 reprograms FOXA1 nuclear interactions to promote resistance to androgen receptor-targeting therapies. (PMID:35550030)
• microRNA-206 prevents hepatocellular carcinoma growth and metastasis via down-regulating CREB5 and inhibiting the PI3K/AKT signaling pathway. (PMID:36003063)
• The DNAm levels of CREB5 (cg11301281) were associated with clopidogrel resistance. (PMID:36087301)
• Long noncoding RNA SNHG4 promotes the malignant progression of hepatocellular carcinoma through the miR-211-5p/CREB5 axis. (PMID:36565037)
• Regulon analysis identifies protective FXR and CREB5 in proximal tubules in early diabetic kidney disease. (PMID:37337149)
• The ATF2/miR-3913-5p/CREB5 axis is involved in the cell proliferation and metastasis of colorectal cancer. (PMID:37816820)
• SPOP promotes CREB5 ubiquitination to inhibit MET signaling in liver cancer. (PMID:37996058)
• Dysregulation of CREB5 Impairs Decidualization and Maternal-Fetal Interactions by Inhibiting Autophagy in Recurrent Spontaneous Abortion. (PMID:38424407)
• Identification of CREB5 as a prognostic and immunotherapeutic biomarker in glioma through multi-omics pan-cancer analysis. (PMID:38547657)
• Plasma microRNA-320c as a Potential Biomarker for the Severity of Knee Osteoarthritis and Regulates cAMP Responsive Element Binding Protein 5 (CREB5) in Chondrocytes. (PMID:38549717)
• RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins. (PMID:39015025)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	creb5a	ENSDARG00000099002
mus_musculus	Creb5	ENSMUSG00000053007
rattus_norvegicus	Creb5	ENSRNOG00000008622
caenorhabditis_elegans		WBGENE00000223

Paralogs (2): ATF2 (ENSG00000115966), ATF7 (ENSG00000170653)

Protein

Protein identifiers

Cyclic AMP-responsive element-binding protein 5 — Q02930 (reviewed: Q02930)

Alternative names: cAMP-response element-binding protein A

All UniProt accessions (4): Q02930, C9JN33, H0YFV2, H9KVC5

UniProt curated annotations — full annotation on UniProt →

Function. Binds to the cAMP response element and activates transcription.

Subunit / interactions. Binds DNA as a homodimer or as a heterodimer with JUN or ATF2/CREBP1.

Subcellular location. Nucleus.

Similarity. Belongs to the bZIP family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q02930-1	1, Alpha	yes
Q02930-2	2, Beta
Q02930-3	3, Gamma
Q02930-4	4, Delta

RefSeq proteins (4): NP_001011666, NP_004895, NP_878901, NP_878902 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004827	bZIP	Domain
IPR013087	Znf_C2H2_type	Domain
IPR016378	TF_CRE-BP1-typ	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR046347	bZIP_sf	Homologous_superfamily
IPR051027

Pfam: PF00170

UniProt features (22 total): compositionally biased region 5, splice variant 4, region of interest 4, modified residue 3, sequence conflict 2, chain 1, domain 1, cross-link 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02930-F1	57.95	0.16

Functional residue map

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

Post-translational modifications (4): 59, 61, 137, 50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 505 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, AGGAAGC_MIR5163P, RRAGTTGT_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, LEE_NEURAL_CREST_STEM_CELL_DN, YAATNRNNNYNATT_UNKNOWN, BROWNE_HCMV_INFECTION_6HR_DN, TGCACTT_MIR519C_MIR519B_MIR519A, AAGCCAT_MIR135A_MIR135B, AREB6_01, HNF1_Q6, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, FOXD3_01

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of DNA-templated transcription (GO:0045893), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (9): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), cAMP response element binding (GO:0035497), identical protein binding (GO:0042802), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
DNA-templated transcription	2
transcription by RNA polymerase II	1
positive regulation of RNA biosynthetic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	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
transition metal ion binding	1
RNA polymerase II cis-regulatory region sequence-specific DNA binding	1
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
extracellular vesicle	1

Protein interactions and networks

STRING

1900 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CREB5	JUN	P05412	695
CREB5	CEBPD	P49716	490
CREB5	ZNF19	P17023	464
CREB5	CREB1	P16220	456
CREB5	DRD4	P21917	447
CREB5	CHRM2	P08172	447
CREB5	CNTNAP3	Q9BZ76	445
CREB5	SMAD3	P84022	442
CREB5	CREB3L4	Q8TEY5	435
CREB5	FOSB	P53539	433
CREB5	ENPP2	Q13822	429
CREB5	JUP	P14923	421
CREB5	PIK3R5	Q8WYR1	421
CREB5	CXCR2	P25025	420
CREB5	NOD2	Q9HC29	414
CREB5	FCGR3B	O75015	414

IntAct

35 interactions, top by confidence:

A	B	Type	Score
JUN	ATF2	psi-mi:“MI:0914”(association)	0.950
ATF2	JUN	psi-mi:“MI:0914”(association)	0.950
JUNB	FOS	psi-mi:“MI:0914”(association)	0.950
CTBP1	ZEB2	psi-mi:“MI:0914”(association)	0.800
ATF2	BACH1	psi-mi:“MI:0914”(association)	0.780
PPP2R2D	YEATS4	psi-mi:“MI:0914”(association)	0.730
FOSB	JUN	psi-mi:“MI:0914”(association)	0.690
CREB5	JUN	psi-mi:“MI:0914”(association)	0.690
JUN	NFATC1	psi-mi:“MI:0914”(association)	0.610
MLLT6	RGPD8	psi-mi:“MI:0914”(association)	0.530
CREB5	BACH1	psi-mi:“MI:0914”(association)	0.530
FOSL2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
FOS	YEATS4	psi-mi:“MI:0914”(association)	0.530
JUN	NKRF	psi-mi:“MI:0914”(association)	0.460
CREB5	KRTAP3-2	psi-mi:“MI:0915”(physical association)	0.370
CREB5	LGALS13	psi-mi:“MI:0915”(physical association)	0.370
CREB5	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.370
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
ZMYND11	GOT2	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
BATF3	TARS3	psi-mi:“MI:0914”(association)	0.350
CEBPG	CCDC85C	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
AHCYL1	TRAF5	psi-mi:“MI:0914”(association)	0.350
BACH2	ENC1	psi-mi:“MI:0914”(association)	0.350
JUNB	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
ARIH1	PHGDH	psi-mi:“MI:0914”(association)	0.350

BioGRID (232): CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), CREB5 (Two-hybrid), SPRY1 (Two-hybrid), SPRY2 (Two-hybrid), RBPMS (Two-hybrid), MTUS2 (Two-hybrid)

ESM2 similar proteins: A0A0G2JTY4, A0JNC2, A2AQ25, E1BEQ5, O09000, O57539, O70305, O93602, P15336, P16951, P17544, P70365, P97305, Q00969, Q02930, Q12968, Q14157, Q15032, Q15596, Q15788, Q1LY51, Q4PJW2, Q4VCS5, Q5R9C9, Q5SFM8, Q5T5P2, Q5T6F2, Q61026, Q62415, Q6GP15, Q80TM6, Q80X50, Q86YP4, Q8CHY6, Q8IY63, Q8VCB2, Q8VHG2, Q8VHR5, Q8WXI9, Q91VX2

Diamond homologs: A0A0A2J9B3, A7YY54, B8NLU5, O77627, O93602, P05411, P05412, P05627, P09450, P11939, P12981, P15066, P15336, P16951, P17275, P17325, P17535, P17544, P18870, P23050, P24898, P27921, P52890, P52909, P54864, P56432, P78962, P79703, Q00969, Q02100, Q02930, Q09771, Q09926, Q0VBZ5, Q2U616, Q4WVQ7, Q59VR1, Q5R9C9, Q8K1L0, Q8R0S1

SIGNOR signaling

17 interactions.

A	Effect	B	Mechanism
CREB5	“up-regulates quantity by expression”	MX1	“transcriptional regulation”
CREB5	“up-regulates quantity by expression”	ATP6V0E1	“transcriptional regulation”
CREB5	“up-regulates quantity by expression”	CFB	“transcriptional regulation”
CREB5	“up-regulates quantity by expression”	DGKG	“transcriptional regulation”
CREB5	“down-regulates quantity by repression”	DGKG	“transcriptional regulation”
CREB5	“down-regulates quantity by repression”	LGALS3BP	“transcriptional regulation”
CREB5	“down-regulates quantity by repression”	LY96	“transcriptional regulation”
CREB5	“up-regulates quantity by expression”	MAPKAPK3	“transcriptional regulation”
CREB5	“down-regulates quantity by repression”	RASGRP3	“transcriptional regulation”
CREB5	“down-regulates quantity by repression”	RDX	“transcriptional regulation”
CREB5	“down-regulates quantity by repression”	STAT1	“transcriptional regulation”
CREB5	“up-regulates quantity by expression”	TGFBR3	“transcriptional regulation”
CREB5	“down-regulates quantity by repression”	TNFRSF11B	“transcriptional regulation”
CREB5	“up-regulates activity”	CREB5	binding
CREB5	“up-regulates activity”	JUN	binding
CREB5	“up-regulates activity”	ATF2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
NGF-stimulated transcription	5	52.9×	7e-06

GO biological processes:

GO term	Partners	Fold	FDR
integrated stress response signaling	6	108.0×	5e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

4292 predictions. Top by Δscore:

Variant	Effect	Δscore
7:28438727:A:AG	acceptor_gain	1.0000
7:28438728:G:GG	acceptor_gain	1.0000
7:28438785:G:GG	donor_gain	1.0000
7:28456862:C:G	donor_gain	1.0000
7:28488164:T:A	acceptor_gain	1.0000
7:28494893:A:AG	acceptor_gain	1.0000
7:28507610:TTTCA:T	acceptor_loss	1.0000
7:28507611:TTCA:T	acceptor_loss	1.0000
7:28507612:TCAG:T	acceptor_loss	1.0000
7:28507613:CA:C	acceptor_loss	1.0000
7:28507614:A:AG	acceptor_gain	1.0000
7:28507615:G:GA	acceptor_gain	1.0000
7:28507615:GATC:G	acceptor_gain	1.0000
7:28507615:GATCA:G	acceptor_gain	1.0000
7:28507707:G:GT	donor_gain	1.0000
7:28507717:G:GT	donor_gain	1.0000
7:28507734:GCGG:G	donor_gain	1.0000
7:28570358:T:A	acceptor_gain	1.0000
7:28570359:G:A	acceptor_gain	1.0000
7:28570363:A:AG	acceptor_gain	1.0000
7:28570364:G:GG	acceptor_gain	1.0000
7:28570364:GA:G	acceptor_gain	1.0000
7:28570364:GAAT:G	acceptor_gain	1.0000
7:28570538:G:GC	donor_loss	1.0000
7:28570539:T:G	donor_loss	1.0000
7:28718880:G:GG	donor_gain	1.0000
7:28724218:TTAG:T	acceptor_loss	1.0000
7:28724219:TAG:T	acceptor_loss	1.0000
7:28724220:A:AG	acceptor_gain	1.0000
7:28724220:AGAT:A	acceptor_gain	1.0000

AlphaMissense

3405 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:28488223:T:A	C18S	1.000
7:28488223:T:C	C18R	1.000
7:28488224:G:A	C18Y	1.000
7:28488224:G:C	C18S	1.000
7:28488225:C:G	C18W	1.000
7:28488238:T:A	C23S	1.000
7:28488238:T:C	C23R	1.000
7:28488239:G:A	C23Y	1.000
7:28488239:G:C	C23S	1.000
7:28488240:C:G	C23W	1.000
7:28494909:T:C	F27L	1.000
7:28494910:T:C	F27S	1.000
7:28494910:T:G	F27C	1.000
7:28494911:C:A	F27L	1.000
7:28494911:C:G	F27L	1.000
7:28494928:T:C	L33P	1.000
7:28494936:C:A	H36N	1.000
7:28494936:C:G	H36D	1.000
7:28494938:T:A	H36Q	1.000
7:28494938:T:G	H36Q	1.000
7:28507625:C:A	P60Q	1.000
7:28507630:C:A	P62T	1.000
7:28507630:C:T	P62S	1.000
7:28507631:C:A	P62Q	1.000
7:28507631:C:G	P62R	1.000
7:28507639:T:C	F65L	1.000
7:28507640:T:C	F65S	1.000
7:28507640:T:G	F65C	1.000
7:28507641:C:A	F65L	1.000
7:28507641:C:G	F65L	1.000

dbSNP variants (sampled 300 via entrez): RS1000005154 (7:28329264 T>C), RS1000006373 (7:28358923 AC>A), RS1000015808 (7:28465948 A>G), RS1000018774 (7:28492889 G>A), RS1000024544 (7:28305850 G>A), RS1000025296 (7:28626005 A>G), RS1000026713 (7:28799939 A>C,G), RS1000029496 (7:28585634 G>A,C), RS1000030108 (7:28592260 A>G), RS1000040735 (7:28439253 A>G), RS1000045120 (7:28647188 C>T), RS1000049251 (7:28460016 C>T), RS1000063693 (7:28739645 T>A), RS1000064002 (7:28671249 C>T), RS1000075071 (7:28793174 T>G)

Disease associations

OMIM: gene MIM:618262 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

71 associations (top):

Study	Trait	p-value
GCST000246_13	Attention deficit hyperactivity disorder	5.000000e-06
GCST001017_6	Diabetic retinopathy	7.000000e-06
GCST001621_11	Airflow obstruction	2.000000e-06
GCST001729_16	Crohn’s disease	4.000000e-09
GCST002202_6	Anxiety in major depressive disorder	5.000000e-06
GCST002707_18	Serum thyroid-stimulating hormone levels	8.000000e-06
GCST004608_89	Granulocyte percentage of myeloid white cells	5.000000e-49
GCST004609_30	Monocyte percentage of white cells	2.000000e-28
GCST004610_158	White blood cell count	7.000000e-56
GCST004613_108	Sum neutrophil eosinophil counts	8.000000e-77
GCST004614_100	Granulocyte count	6.000000e-78
GCST004617_6	Eosinophil percentage of granulocytes	4.000000e-11
GCST004618_69	White blood cell count (basophil)	8.000000e-15
GCST004620_73	Sum basophil neutrophil counts	3.000000e-80
GCST004623_106	Neutrophil percentage of granulocytes	7.000000e-10
GCST004626_102	Myeloid white cell count	2.000000e-72
GCST004629_114	Neutrophil count	4.000000e-79
GCST004632_57	Lymphocyte percentage of white cells	4.000000e-42
GCST004633_68	Neutrophil percentage of white cells	3.000000e-54
GCST004793_3	Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals	2.000000e-06
GCST004988_655	Breast cancer	4.000000e-09
GCST005830_139	Hand grip strength	3.000000e-09
GCST005973_32	White blood cell count	2.000000e-17
GCST005974_17	Neutrophil count	8.000000e-20
GCST006061_27	Atrial fibrillation	1.000000e-11
GCST006061_28	Atrial fibrillation	3.000000e-11
GCST006288_146	Heel bone mineral density	2.000000e-09
GCST006288_591	Heel bone mineral density	9.000000e-23
GCST006288_748	Heel bone mineral density	2.000000e-13
GCST006414_122	Atrial fibrillation	9.000000e-10

EFO canonical traits (30, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0007994	neutrophil percentage of granulocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0006941	grip strength measurement
EFO:0009270	heel bone mineral density
EFO:0003924	hair color
EFO:0005763	pulse pressure measurement
EFO:0006525	cigarettes per day measurement
EFO:0007626	emphysema imaging measurement
EFO:0010103	response to peginterferon alfa-2a
EFO:0010125	viral load
EFO:0007710	cognitive decline measurement
EFO:0003959	cleft lip
EFO:0005939	parental genotype effect measurement
EFO:0009116	vitamin supplement exposure measurement
EFO:0006939	cup-to-disc ratio measurement
EFO:0004644	TPE interval measurement
EFO:0004459	ferritin measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass
EFO:0007992	basophil percentage of leukocytes
EFO:0005091	monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects methylation	5
Silicon Dioxide	increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
entinostat	decreases expression, increases expression, affects cotreatment	3
Cyclosporine	decreases expression, increases expression	3
bisphenol S	increases methylation, increases expression	2
Acetaminophen	increases expression	2
Air Pollutants	increases abundance, increases expression	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Doxorubicin	decreases expression, increases expression	2
Estradiol	affects cotreatment, increases expression	2
Ethinyl Estradiol	increases expression, affects expression	2
Formaldehyde	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Rotenone	increases expression	2
T-2 Toxin	increases expression	2
Tretinoin	increases expression, decreases expression	2
1-Methyl-4-phenylpyridinium	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases methylation	1
TL8-506	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, affects methylation	1
deoxynivalenol	increases expression	1
arsenite	affects binding, decreases reaction	1
sulforaphane	decreases expression	1
2-amino-9H-pyrido(2,3-b)indole	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1P8	Abcam HeLa CREB5 KO	Cancer cell line	Female
CVCL_E0AX	Ubigene HeLa CREB5 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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