C6orf136

Summary

C6orf136 (chromosome 6 open reading frame 136, HGNC:21301) is a protein-coding gene on chromosome 6p21.33, encoding Uncharacterized protein C6orf136 (Q5SQH8).

Predicted to be located in membrane.

Source: NCBI Gene 221545 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_001161376

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21301
Approved symbol	C6orf136
Name	chromosome 6 open reading frame 136
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	Em:AB023049.8
Ensembl gene	ENSG00000204564
Ensembl biotype	protein_coding
Entrez	221545

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 4 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000293604, ENST00000376471, ENST00000376473, ENST00000446773, ENST00000460172, ENST00000463794, ENST00000465699, ENST00000467801, ENST00000468785, ENST00000484551, ENST00000487873, ENST00000488383, ENST00000493705, ENST00000651131, ENST00000910855, ENST00000968705, ENST00000968706, ENST00000968707

RefSeq mRNA: 3 — MANE Select: NM_001161376 NM_001109938, NM_001161376, NM_145029

CCDS: CCDS43443, CCDS4684, CCDS54979

Canonical transcript exons

ENST00000411654 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 96.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.8716 / max 372.2768, expressed in 1812 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66752	15.3127	1779
66750	8.2090	1730
66754	6.4285	1355
66751	1.7504	949
66753	0.1710	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.89	gold quality
primary visual cortex	UBERON:0002436	96.51	gold quality
cerebellar cortex	UBERON:0002129	96.31	gold quality
cerebellar hemisphere	UBERON:0002245	96.30	gold quality
apex of heart	UBERON:0002098	96.27	gold quality
cerebellum	UBERON:0002037	96.25	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.25	gold quality
superior frontal gyrus	UBERON:0002661	95.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.11	gold quality
metanephros cortex	UBERON:0010533	95.08	gold quality
right frontal lobe	UBERON:0002810	94.90	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.79	gold quality
rectum	UBERON:0001052	94.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.44	gold quality
heart left ventricle	UBERON:0002084	94.35	gold quality
hypothalamus	UBERON:0001898	94.13	gold quality
duodenum	UBERON:0002114	94.13	gold quality
anterior cingulate cortex	UBERON:0009835	94.02	gold quality
transverse colon	UBERON:0001157	94.00	gold quality
putamen	UBERON:0001874	93.75	gold quality
pituitary gland	UBERON:0000007	93.71	gold quality
substantia nigra	UBERON:0002038	93.65	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.57	gold quality
caudate nucleus	UBERON:0001873	93.54	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.54	gold quality
nucleus accumbens	UBERON:0001882	93.46	gold quality
cortex of kidney	UBERON:0001225	93.36	gold quality
Ammon’s horn	UBERON:0001954	93.29	gold quality
amygdala	UBERON:0001876	93.23	gold quality
temporal lobe	UBERON:0001871	93.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting C6orf136, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-4672	99.50	71.58	2893

Literature-anchored findings (GeneRIF, showing 1)

• C6orf136 was found to be differentially methylated and differentially expressed in human squamous cell carcinomas (PMID:22461910)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-215a10.4	ENSDARG00000056165
mus_musculus	2310061I04Rik	ENSMUSG00000050705
rattus_norvegicus	2310061I04Rik	ENSRNOG00000071271
drosophila_melanogaster	CG16787	FBGN0034940
caenorhabditis_elegans		WBGENE00007760

Protein

Protein identifiers

Uncharacterized protein C6orf136 — Q5SQH8 (reviewed: Q5SQH8)

All UniProt accessions (10): A0A1U9X7F4, Q5SQH8, F8WBB4, F8WC77, F8WEV2, H7C4U4, H7C4Z6, H7C5B5, H7C5D3, Q0P5T2

Isoforms (4)

UniProt ID	Names	Canonical?
Q5SQH8-1	1	yes
Q5SQH8-2	2
Q5SQH8-3	3
Q5SQH8-4	4

RefSeq proteins (3): NP_001103408, NP_001154848, NP_659466 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018790	DUF2358	Family

Pfam: PF10184

UniProt features (6 total): splice variant 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SQH8-F1	62.68	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 118 (showing top): TGCGCANK_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, PATIL_LIVER_CANCER, NKX62_Q2, BILD_E2F3_ONCOGENIC_SIGNATURE, FOXJ2_01, RYTTCCTG_ETS2_B, BERENJENO_TRANSFORMED_BY_RHOA_UP, AR_01, BURTON_ADIPOGENESIS_6, TGGAAA_NFAT_Q4_01, MZF1_01

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C6orf136	C11orf16	Q9NQ32	542
C6orf136	GLT8D1	Q68CQ7	539
C6orf136	GNL1	P36915	519
C6orf136	NRM	Q8IXM6	518
C6orf136	PAFAH1B3	Q15102	513
C6orf136	C12orf56	Q8IXR9	477
C6orf136	ABCF1	Q8NE71	477
C6orf136	TCF19	Q9Y242	469
C6orf136	GTF2H4	Q92759	459
C6orf136	SPCS1	Q9Y6A9	435
C6orf136	CCDC154	A6NI56	419
C6orf136	NUDT8	Q8WV74	412
C6orf136	ADPRM	Q3LIE5	400
C6orf136	ZNF319	Q9P2F9	397
C6orf136	MUCL3	Q3MIW9	396

IntAct

4 interactions, top by confidence:

A	B	Type	Score
C6orf136	CSNK2B	psi-mi:“MI:0915”(physical association)	0.370
C6orf136	PLK1	psi-mi:“MI:0915”(physical association)	0.370
C6orf136	MPZL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): C6orf136 (Affinity Capture-MS), C6orf136 (Affinity Capture-MS), C6orf136 (Synthetic Lethality), C6orf136 (Affinity Capture-RNA), RNF126 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MAP1S (Affinity Capture-MS), C6orf136 (Negative Genetic), C6orf136 (Proximity Label-MS), C6orf136 (Two-hybrid), C6orf136 (Two-hybrid)

ESM2 similar proteins: A1L3C1, A2RRU4, A6QM06, A6QNS9, F1LQY6, O94827, P29372, P29590, P97260, Q01113, Q02833, Q04841, Q12770, Q13505, Q29RM4, Q32KT5, Q32L49, Q3UGX3, Q4R5F9, Q5BK01, Q5I0I4, Q5MNU5, Q5SQH8, Q66T02, Q69Z89, Q6GQT6, Q6RFZ7, Q6UXT9, Q6ZN54, Q70EL4, Q7Z6G3, Q86WI3, Q86YD3, Q8IW40, Q8N1F8, Q8N531, Q8N9H8, Q8TCX5, Q91ZP9, Q920N2

Diamond homologs: Q32KT5, Q5SQH8, Q5TM64, Q6MG12

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

838 predictions. Top by Δscore:

Variant	Effect	Δscore
6:30647301:CAGGT:C	donor_loss	1.0000
6:30647302:AGG:A	donor_loss	1.0000
6:30647303:GGT:G	donor_loss	1.0000
6:30647304:G:GA	donor_loss	1.0000
6:30647305:T:G	donor_loss	1.0000
6:30650964:ACTG:A	acceptor_gain	1.0000
6:30650966:T:A	acceptor_gain	1.0000
6:30650967:G:A	acceptor_gain	1.0000
6:30650992:A:AG	acceptor_gain	1.0000
6:30650993:G:GG	acceptor_gain	1.0000
6:30651083:G:GG	donor_gain	1.0000
6:30651260:TCACA:T	acceptor_loss	1.0000
6:30651261:CACA:C	acceptor_loss	1.0000
6:30651262:ACAGG:A	acceptor_gain	1.0000
6:30651263:CAGGG:C	acceptor_loss	1.0000
6:30651264:A:AG	acceptor_gain	1.0000
6:30651264:AG:A	acceptor_gain	1.0000
6:30651264:AGG:A	acceptor_gain	1.0000
6:30651265:G:GG	acceptor_gain	1.0000
6:30651265:G:T	acceptor_loss	1.0000
6:30651265:GG:G	acceptor_gain	1.0000
6:30651265:GGG:G	acceptor_gain	1.0000
6:30651464:CCGG:C	donor_loss	1.0000
6:30651465:CGGT:C	donor_loss	1.0000
6:30651466:GGT:G	donor_loss	1.0000
6:30651467:G:GG	donor_gain	1.0000
6:30651468:T:A	donor_loss	1.0000
6:30652718:G:GG	donor_gain	1.0000
6:30652798:GCA:G	acceptor_loss	1.0000
6:30652799:CA:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000112654 (6:30645603 G>C), RS1000716173 (6:30646792 G>A), RS1001025510 (6:30647046 C>A,G,T), RS1001187589 (6:30646836 T>C), RS1001231873 (6:30646985 A>G), RS1001444723 (6:30650039 G>A,T), RS1002946706 (6:30646251 C>T), RS1003245892 (6:30646598 G>A,T), RS1003505759 (6:30650152 G>C), RS1003545460 (6:30645143 C>G,T), RS1003672122 (6:30651398 G>A,C), RS1003785001 (6:30651665 C>T), RS1003890107 (6:30651619 G>A), RS1003892600 (6:30651592 T>A), RS1005435842 (6:30651174 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_121	Autism spectrum disorder or schizophrenia	3.000000e-13
GCST004521_132	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_2	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_210	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_269	Autism spectrum disorder or schizophrenia	7.000000e-11
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_48	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_79	Autism spectrum disorder or schizophrenia	1.000000e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
acyline	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Thimerosal	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1SZ	HAP1 C6orf136 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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