C12orf71

Summary

C12orf71 (chromosome 12 open reading frame 71, HGNC:34452) is a protein-coding gene on chromosome 12p11.23, encoding Uncharacterized protein C12orf71 (A8MTZ7).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_001080406

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34452
Approved symbol	C12orf71
Name	chromosome 12 open reading frame 71
Location	12p11.23
Locus type	gene with protein product
Status	Approved
Aliases	LOC728858
Ensembl gene	ENSG00000214700
Ensembl biotype	protein_coding
Entrez	728858

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000429849

RefSeq mRNA: 2 — MANE Select: NM_001080406 NM_001080406, NM_001384983

CCDS: CCDS44851

Canonical transcript exons

ENST00000429849 — 2 exons

Exon	Start	End
ENSE00001599870	27081968	27082578
ENSE00002212830	27081057	27081467

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 86.38.

Top tissues by expression

127 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	86.38	gold quality
left testis	UBERON:0004533	60.77	gold quality
testis	UBERON:0000473	60.35	gold quality
sural nerve	UBERON:0015488	60.02	silver quality
right testis	UBERON:0004534	58.37	gold quality
bone marrow	UBERON:0002371	57.21	gold quality
corpus callosum	UBERON:0002336	56.45	gold quality
granulocyte	CL:0000094	52.95	gold quality
bone marrow cell	CL:0002092	51.97	gold quality
lower esophagus mucosa	UBERON:0035834	51.51	gold quality
cerebellar hemisphere	UBERON:0002245	50.49	gold quality
cerebellar cortex	UBERON:0002129	50.32	gold quality
ectocervix	UBERON:0012249	50.24	gold quality
cerebellum	UBERON:0002037	50.03	gold quality
skin of abdomen	UBERON:0001416	50.02	gold quality
skeletal muscle tissue	UBERON:0001134	49.62	silver quality
zone of skin	UBERON:0000014	49.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	49.20	gold quality
body of pancreas	UBERON:0001150	48.96	gold quality
left uterine tube	UBERON:0001303	48.90	gold quality
esophagus mucosa	UBERON:0002469	48.82	gold quality
skin of leg	UBERON:0001511	48.77	gold quality
spleen	UBERON:0002106	48.56	gold quality
thoracic mammary gland	UBERON:0005200	48.54	gold quality
upper lobe of left lung	UBERON:0008952	48.12	gold quality
superior frontal gyrus	UBERON:0002661	48.11	gold quality
primary visual cortex	UBERON:0002436	48.03	gold quality
minor salivary gland	UBERON:0001830	47.97	gold quality
small intestine Peyer’s patch	UBERON:0003454	47.66	gold quality
apex of heart	UBERON:0002098	47.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting C12orf71, 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-126-5P	100.00	72.71	3180
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-500A-5P	98.76	69.13	1241
HSA-MIR-1246	98.54	66.21	959
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-6881-5P	98.16	67.38	665
HSA-MIR-335-5P	97.10	68.12	1022

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700034J05Rik	ENSMUSG00000040163
rattus_norvegicus	C4h12orf71	ENSRNOG00000026864

Protein

Protein identifiers

Uncharacterized protein C12orf71 — A8MTZ7 (reviewed: A8MTZ7)

All UniProt accessions (1): A8MTZ7

RefSeq proteins (2): NP_001073875, NP_001371912 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027908	DUF4640	Family

Pfam: PF15480

UniProt features (3 total): chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MTZ7-F1	53.49	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (showing top): chr12p11, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN, GSE10240_CTRL_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_DN, MIR561_3P, MIR3915, MIR335_5P, MIR1246, MIR4450, GAO_SMALL_INTESTINE_24W_C7_SECRETORY_PROGENITOR, DESCARTES_FETAL_PANCREAS_ACINAR_CELLS, GSE32423_CTRL_VS_IL7_MEMORY_CD8_TCELL_DN, GSE2770_UNTREATED_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_6H_DN, GSE8835_HEALTHY_VS_CLL_CD4_TCELL_DN, GSE5503_MLN_DC_VS_PLN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, GSE13547_CTRL_VS_ANTI_IGM_STIM_ZFX_KO_BCELL_12H_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

82 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C12orf71	YEATS4	O95619	532
C12orf71	LYZL6	O75951	531
C12orf71	SPRYD4	Q8WW59	527
C12orf71	LYZL4	Q96KX0	519
C12orf71	NUP107	P57740	474
C12orf71	CPM	P14384	472
C12orf71	FRS2	Q8WU20	466
C12orf71	TMEM64	Q6YI46	445
C12orf71	ZNF215	Q9UL58	419
C12orf71	ZBED2	Q9BTP6	417
C12orf71	MIP	P30301	414
C12orf71	GLS2	Q9UI32	383
C12orf71	KIF26B	Q2KJY2	366
C12orf71	SPACA5B	Q96QH8	363
C12orf71	BCAS3	Q9H6U6	348

IntAct

0 interactions, top by confidence:

BioGRID (1): C12orf71 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GU33, A0A1B0GUV7, A0A1L8FZ84, A4GZ95, A6ZT44, A8MTZ7, E1B9I5, G1XTZ6, P03562, P05909, P05910, P05911, P0C6G2, P0C6G4, P0C6G5, P0CK37, P0CK38, P12513, P14968, P21740, P26548, P27262, P27263, P27271, P32645, P33199, P36280, P38612, P43580, P87318, Q03937, Q09824, Q1A264, Q2V2P0, Q3KPS4, Q5T5A4, Q5T7R7, Q67621, Q6W0C5, Q88891

Diamond homologs: A8MTZ7, Q32LI3, Q66H53, Q80W69

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

93 predictions. Top by Δscore:

Variant	Effect	Δscore
12:27081467:TC:T	acceptor_loss	0.9900
12:27081468:C:CA	acceptor_loss	0.9900
12:27081472:C:CT	acceptor_gain	0.9900
12:27081473:A:C	acceptor_gain	0.9900
12:27081464:TCAT:T	acceptor_gain	0.9800
12:27081465:CAT:C	acceptor_gain	0.9800
12:27081465:CATC:C	acceptor_gain	0.9800
12:27081468:C:CC	acceptor_gain	0.9800
12:27081963:CTGA:C	donor_loss	0.9800
12:27081964:TGACC:T	donor_loss	0.9800
12:27081965:GACCT:G	donor_loss	0.9800
12:27081966:A:AG	donor_loss	0.9800
12:27081969:TGA:T	donor_gain	0.9800
12:27081471:CCA:C	acceptor_gain	0.9700
12:27081473:A:AC	acceptor_gain	0.9700
12:27081472:C:T	acceptor_gain	0.9600
12:27081473:A:T	acceptor_gain	0.9500
12:27081952:ATT:A	donor_gain	0.9500
12:27081463:ATCAT:A	acceptor_gain	0.9300
12:27081954:T:TA	donor_gain	0.9200
12:27081466:AT:A	acceptor_gain	0.9100
12:27081479:A:C	acceptor_gain	0.8900
12:27081900:A:C	donor_gain	0.8900
12:27081814:ATC:A	donor_gain	0.8600
12:27081968:C:G	donor_loss	0.8600
12:27081479:A:AC	acceptor_gain	0.8400
12:27081820:T:TA	donor_gain	0.8200
12:27081966:A:AC	donor_gain	0.8200
12:27081967:C:CC	donor_gain	0.8200
12:27081869:AAG:A	donor_gain	0.8000

AlphaMissense

1784 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:27082210:A:G	W92R	0.909
12:27082210:A:T	W92R	0.909
12:27082418:G:C	S22R	0.901
12:27082418:G:T	S22R	0.901
12:27082420:T:G	S22R	0.901
12:27082400:G:C	F28L	0.896
12:27082400:G:T	F28L	0.896
12:27082402:A:G	F28L	0.896
12:27082208:C:A	W92C	0.873
12:27082208:C:G	W92C	0.873
12:27081333:G:C	F217L	0.851
12:27081333:G:T	F217L	0.851
12:27081335:A:G	F217L	0.851
12:27082235:A:C	F83L	0.844
12:27082235:A:T	F83L	0.844
12:27082237:A:G	F83L	0.844
12:27082221:A:G	I88T	0.812
12:27082083:A:G	L134P	0.788
12:27082212:G:T	A91D	0.783
12:27082061:A:C	F141L	0.766
12:27082061:A:T	F141L	0.766
12:27082063:A:G	F141L	0.766
12:27082408:C:G	G26R	0.748
12:27082301:C:A	W61C	0.739
12:27082301:C:G	W61C	0.739
12:27081325:A:G	L220P	0.738
12:27082092:A:G	L131P	0.730
12:27082071:A:G	F138S	0.726
12:27082209:C:G	W92S	0.717
12:27082207:C:G	D93H	0.703

dbSNP variants (sampled 300 via entrez): RS1000129871 (12:27085369 T>C), RS1001286584 (12:27084413 A>G), RS1001359626 (12:27084183 T>C), RS1002287297 (12:27083336 C>A), RS1002359224 (12:27083117 T>A), RS1003360795 (12:27081732 G>A,C,T), RS1003986036 (12:27085765 G>A), RS1004316732 (12:27086069 C>T), RS1005871046 (12:27083292 C>T), RS1007194943 (12:27082442 G>A), RS1007497533 (12:27082732 C>T), RS1008192350 (12:27081063 G>A,T), RS1009841858 (12:27083383 A>G), RS1011845616 (12:27080886 G>A), RS1012183234 (12:27081038 G>A)

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

1 associations (top):

Study	Trait	p-value
GCST005759_6	Dimensional psychopathology (Social)	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009100	social domain measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
fluorene-9-bisphenol	increases expression	1
Fulvestrant	increases methylation	1
Benzo(a)pyrene	decreases methylation, increases methylation	1

Clinical trials (associated diseases)

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