C7orf33

Summary

C7orf33 (chromosome 7 open reading frame 33, HGNC:21724) is a protein-coding gene on chromosome 7q36.1, encoding Uncharacterized protein C7orf33 (Q8WU49).

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 8 total — 2 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_145304

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21724
Approved symbol	C7orf33
Name	chromosome 7 open reading frame 33
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170279
Ensembl biotype	protein_coding
Entrez	202865

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000307003

RefSeq mRNA: 1 — MANE Select: NM_145304 NM_145304

CCDS: CCDS5890

Canonical transcript exons

ENST00000307003 — 3 exons

Exon	Start	End
ENSE00001133902	148615327	148615860
ENSE00001133910	148590766	148591129
ENSE00001172801	148614042	148614296

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 81.17.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0065 / max 9.3529, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81861	0.0065	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.17	gold quality
ganglionic eminence	UBERON:0004023	69.14	gold quality
myocardium	UBERON:0002349	57.53	gold quality
buccal mucosa cell	CL:0002336	57.28	gold quality
cartilage tissue	UBERON:0002418	54.54	gold quality
endothelial cell	CL:0000115	54.05	gold quality
gingiva	UBERON:0001828	53.59	gold quality
gingival epithelium	UBERON:0001949	53.36	gold quality
heart right ventricle	UBERON:0002080	53.07	gold quality
trabecular bone tissue	UBERON:0002483	52.21	gold quality
tendon of biceps brachii	UBERON:0008188	46.88	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	45.14	gold quality
ventricular zone	UBERON:0003053	44.50	silver quality
amniotic fluid	UBERON:0000173	44.31	gold quality
synovial joint	UBERON:0002217	43.77	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
pharyngeal mucosa	UBERON:0000355	43.24	gold quality
body of tongue	UBERON:0011876	43.21	gold quality
vastus lateralis	UBERON:0001379	42.98	gold quality
lower lobe of lung	UBERON:0008949	42.92	silver quality
quadriceps femoris	UBERON:0001377	42.91	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
parotid gland	UBERON:0001831	42.38	gold quality
biceps brachii	UBERON:0001507	42.21	gold quality
layer of synovial tissue	UBERON:0007616	41.79	gold quality
bone marrow	UBERON:0002371	41.61	gold quality
bone marrow cell	CL:0002092	41.57	silver quality
skeletal muscle tissue	UBERON:0001134	41.48	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting C7orf33, 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-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-499B-5P	98.35	68.39	988
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-4685-3P	97.55	67.35	1255
HSA-MIR-4287	97.55	67.24	1247
HSA-MIR-10400-3P	97.29	64.66	597
HSA-MIR-4674	97.29	64.62	597
HSA-MIR-5684	93.17	64.85	454

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein C7orf33 — Q8WU49 (reviewed: Q8WU49)

All UniProt accessions (2): Q8WU49, A0A090N8Y1

RefSeq proteins (1): NP_660347* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR041287	DUF5548	Family

Pfam: PF17702

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WU49-F1	32.20	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): NKX25_02, TGACCTY_ERR1_Q2, TAL1ALPHAE47_01, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, HFH8_01, OCT1_07, TGANTCA_AP1_C, HFH1_01, FREAC4_01, TAL1BETAE47_01, FOX_Q2, ER_Q6_02, TAL1BETAITF2_01, MIR889_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C7orf33	DRC11L	A6NCM1	570
C7orf33	A0A087WTJ2	A0A087WTJ2	514
C7orf33	ZNF425	Q6IV72	507
C7orf33	ZBED10P	Q96FA7	507
C7orf33	ZNF786	Q8N393	506
C7orf33	ZNF783	Q6ZMS7	479
C7orf33	LRRC61	Q9BV99	479
C7orf33	KRABD3	A5PL33	478
C7orf33	WDR86	Q86TI4	477
C7orf33	ZC3HAV1L	Q96H79	475
C7orf33	ZNF775	Q96BV0	448
C7orf33	ZNF212	Q9UDV6	447
C7orf33	TMEM213	A2RRL7	445
C7orf33	ZNF862	O60290	435
C7orf33	KLRG2	A4D1S0	433

IntAct

4 interactions, top by confidence:

A	B	Type	Score
C7orf33	PSMG3	psi-mi:“MI:0915”(physical association)	0.400
C7orf33	TNNC2	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): C7orf33 (Positive Genetic), ACTA2 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), PSMG3 (Affinity Capture-MS)

ESM2 similar proteins: A0A1P8NVU1, A0A7H0DN35, A4TSL2, B2K870, B4F0U2, B9VXI8, C9J3V5, D3ZF18, F5HHT4, H3BU77, J3QM76, O89941, P05901, P0C8D9, P0CAQ7, P0DJX6, P0DJX7, P0DQF3, P0DW17, P14345, P16722, P19564, P21601, P22834, P24034, P36868, P59037, P61475, P64976, P86523, P9WLE4, P9WLE5, Q02781, Q10027, Q1C0B5, Q1CCJ5, Q1HVB5, Q2V4N5, Q495D7, Q497P3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
2425899	NC_000007.13:g.(?146471343)(148544390_?)del	Pathogenic
833138	NC_000007.14:g.(?147395589)(148847318_?)del	Pathogenic
146688	GRCh38/hg38 7q35-36.1(chr7:145999194-148860586)x1	Likely pathogenic

SpliceAI

289 predictions. Top by Δscore:

Variant	Effect	Δscore
7:148614041:GAA:G	acceptor_gain	0.9900
7:148614038:CCA:C	acceptor_loss	0.9800
7:148614039:CA:C	acceptor_loss	0.9800
7:148614040:A:AG	acceptor_gain	0.9800
7:148614040:A:G	acceptor_loss	0.9800
7:148614041:G:GG	acceptor_gain	0.9800
7:148614041:GA:G	acceptor_gain	0.9800
7:148614041:GAAGC:G	acceptor_gain	0.9700
7:148591127:AAGG:A	donor_loss	0.9000
7:148591128:AGGTA:A	donor_loss	0.9000
7:148591130:GTAA:G	donor_loss	0.9000
7:148591131:T:G	donor_loss	0.9000
7:148614022:T:A	acceptor_loss	0.8700
7:148591130:G:GG	donor_gain	0.8500
7:148614030:T:TA	acceptor_gain	0.8500
7:148614044:GCCA:G	acceptor_gain	0.7900
7:148615466:A:G	acceptor_gain	0.7800
7:148603077:G:GT	donor_gain	0.7600
7:148614038:CCAGA:C	acceptor_gain	0.7300
7:148614039:CAGA:C	acceptor_gain	0.7200
7:148614040:AGAA:A	acceptor_gain	0.7200
7:148614041:GAAG:G	acceptor_gain	0.7200
7:148590904:A:T	donor_gain	0.7100
7:148591132:AA:A	donor_loss	0.7000
7:148614044:GCC:G	acceptor_gain	0.7000
7:148595197:C:CG	donor_gain	0.6800
7:148591128:AG:A	donor_gain	0.6700
7:148591129:GG:G	donor_gain	0.6700
7:148593841:GC:G	donor_gain	0.6700
7:148592238:C:A	donor_gain	0.6600

AlphaMissense

1140 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:148614081:T:C	F82L	0.939
7:148614083:T:A	F82L	0.939
7:148614083:T:G	F82L	0.939
7:148614129:T:C	F98L	0.936
7:148614131:T:A	F98L	0.936
7:148614131:T:G	F98L	0.936
7:148591097:T:C	F58L	0.922
7:148591099:T:A	F58L	0.922
7:148591099:T:G	F58L	0.922
7:148591098:T:C	F58S	0.890
7:148591104:T:C	L60S	0.875
7:148591065:T:A	V47D	0.851
7:148614172:T:C	I112T	0.832
7:148614282:A:C	S149R	0.802
7:148614284:T:A	S149R	0.802
7:148614284:T:G	S149R	0.802
7:148590970:G:C	W15C	0.796
7:148590970:G:T	W15C	0.796
7:148591071:T:A	V49D	0.775
7:148614130:T:C	F98S	0.771
7:148614253:T:A	L139H	0.755
7:148614125:G:C	W96C	0.754
7:148614125:G:T	W96C	0.754
7:148615379:T:C	I171T	0.749
7:148591098:T:G	F58C	0.734
7:148591104:T:G	L60W	0.734
7:148614172:T:G	I112S	0.728
7:148614258:T:G	Y141D	0.728
7:148614263:G:C	K142N	0.725
7:148614263:G:T	K142N	0.725

dbSNP variants (sampled 300 via entrez): RS1000022594 (7:148592843 T>TA), RS1000239537 (7:148589526 C>T), RS1000311687 (7:148614405 G>A), RS1000398560 (7:148596148 T>C), RS1000461173 (7:148591176 A>C), RS1000548085 (7:148615771 A>G), RS1000619918 (7:148614149 G>A,C), RS1000707551 (7:148610171 T>G), RS1000802962 (7:148597227 A>G), RS1000827754 (7:148608813 T>C), RS1001128823 (7:148597584 A>G), RS1001304010 (7:148603936 C>A,T), RS1001310141 (7:148613358 C>A,T), RS1001419840 (7:148600967 T>C), RS1001497150 (7:148611359 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:610042

GenCC curated gene-disease

Mondo (1): cortical dysplasia-focal epilepsy syndrome (MONDO:0012400)

Orphanet (2): CNTNAP2-related developmental and epileptic encephalopathy (Orphanet:163681), OBSOLETE: Pitt-Hopkins-like syndrome (Orphanet:221150)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST009391_201	Metabolite levels	5.000000e-06
GCST009391_5	Metabolite levels	1.000000e-06
GCST012490_516	Femur bone mineral density x serum urate levels interaction	4.000000e-10
GCST90000015_11	Parkinson’s disease motor subtype (tremor to postural instability/gait difficulty score ratio)	3.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0010488	glycerol-3-phosphate measurement
EFO:0007813	cotinine measurement
EFO:0004531	urate measurement
EFO:0600011	Parkinson’s disease symptom measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567657	Cortical Dysplasia-Focal Epilepsy Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	2
Folic Acid	decreases expression	1

Clinical trials (associated diseases)

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