C14orf180

Summary

C14orf180 (chromosome 14 open reading frame 180, HGNC:33795) is a protein-coding gene on chromosome 14q32.33, encoding Nutritionally-regulated adipose and cardiac enriched protein homolog (Q8N912).

Predicted to be active in plasma membrane.

Source: NCBI Gene 400258 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_001008404

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33795
Approved symbol	C14orf180
Name	chromosome 14 open reading frame 180
Location	14q32.33
Locus type	gene with protein product
Status	Approved
Aliases	NRAC
Ensembl gene	ENSG00000184601
Ensembl biotype	protein_coding
OMIM	619392
Entrez	400258

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000331952, ENST00000410013, ENST00000557649, ENST00000861948, ENST00000861949, ENST00000962284, ENST00000962285, ENST00000962286, ENST00000962287, ENST00000962288

RefSeq mRNA: 3 — MANE Select: NM_001008404 NM_001008404, NM_001286399, NM_001286400

CCDS: CCDS32166, CCDS66722

Canonical transcript exons

ENST00000557649 — 5 exons

Exon	Start	End
ENSE00001305453	104588274	104588309
ENSE00001321655	104587749	104587878
ENSE00002077110	104586415	104586541
ENSE00002470157	104579764	104580003
ENSE00002530011	104588578	104590515

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 98.59.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.3181 / max 283.8212, expressed in 135 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141821	1.5274	96
141823	0.3348	78
141819	0.1463	45
141822	0.1215	36
141818	0.1127	36
141820	0.0418	26
141817	0.0336	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.59	gold quality
right atrium auricular region	UBERON:0006631	95.75	gold quality
heart left ventricle	UBERON:0002084	95.35	gold quality
heart	UBERON:0000948	93.23	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.24	gold quality
adipose tissue	UBERON:0001013	87.24	gold quality
omental fat pad	UBERON:0010414	86.05	gold quality
right coronary artery	UBERON:0001625	84.45	gold quality
left coronary artery	UBERON:0001626	81.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.68	gold quality
thoracic mammary gland	UBERON:0005200	76.23	gold quality
right adrenal gland cortex	UBERON:0035827	71.61	gold quality
gastrocnemius	UBERON:0001388	71.60	gold quality
muscle of leg	UBERON:0001383	71.26	gold quality
left adrenal gland cortex	UBERON:0035825	70.06	gold quality
skeletal muscle tissue	UBERON:0001134	69.71	gold quality
right adrenal gland	UBERON:0001233	69.33	gold quality
left adrenal gland	UBERON:0001234	68.71	gold quality
right lobe of liver	UBERON:0001114	68.41	gold quality
placenta	UBERON:0001987	66.27	gold quality
adrenal gland	UBERON:0002369	65.57	gold quality
liver	UBERON:0002107	64.63	gold quality
thoracic aorta	UBERON:0001515	62.35	gold quality
muscle tissue	UBERON:0002385	62.29	gold quality
ascending aorta	UBERON:0001496	62.25	gold quality
descending thoracic aorta	UBERON:0002345	61.37	gold quality
tibial nerve	UBERON:0001323	60.83	gold quality
body of stomach	UBERON:0001161	60.24	gold quality
fundus of stomach	UBERON:0001160	59.93	gold quality
adenohypophysis	UBERON:0002196	58.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting C14orf180, 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-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-4687-5P	99.14	66.26	488
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-384	98.71	67.34	1229
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-6860	97.21	66.31	1656
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-711	96.60	65.75	528

Literature-anchored findings (GeneRIF, showing 1)

• Nrac is a nutritionally-regulated adipose and cardiac-enriched gene. (PMID:23029450)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	A530016L24Rik	ENSMUSG00000043122
rattus_norvegicus		ENSRNOG00000085756

Protein

Protein identifiers

Nutritionally-regulated adipose and cardiac enriched protein homolog — Q8N912 (reviewed: Q8N912)

All UniProt accessions (2): Q8N912, J3KNP8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

RefSeq proteins (3): NP_001008404, NP_001273328, NP_001273329 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028114	DUF4658	Family

Pfam: PF15555

UniProt features (5 total): compositionally biased region 2, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N912-F1	65.50	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 32 (showing top): CACCAGC_MIR138, chr14q32, CTGAGCC_MIR24, MARTENS_TRETINOIN_RESPONSE_UP, MIR4437, MIR711, HAY_BONE_MARROW_STROMAL, GSE17721_LPS_VS_PAM3CSK4_12H_BMDC_UP, GSE17721_PAM3CSK4_VS_GADIQUIMOD_4H_BMDC_UP, DESCARTES_FETAL_MUSCLE_SKELETAL_MUSCLE_CELLS, GSE17721_0.5H_VS_4H_PAM3CSK4_BMDC_DN, GSE20715_0H_VS_6H_OZONE_LUNG_DN, CARRILLOREIXACH_HEPATOBLASTOMA_VS_NORMAL_DN, NOURUZI_NEPC_ASCL1_TARGETS, GSE29614_DAY3_VS_DAY7_TIV_FLU_VACCINE_PBMC_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C14orf180	ZNF75A	Q96N20	556
C14orf180	OR4F15	Q8NGB8	544
C14orf180	AQP7	O14520	531
C14orf180	OR4F6	Q8NGB9	479
C14orf180	OR4F4	Q96R69	446
C14orf180	ZNF623	O75123	439
C14orf180	CEP57	Q86XR8	396
C14orf180	TMEM179	Q6ZVK1	395
C14orf180	FLRT2	O43155	375
C14orf180	CD300LG	Q6UXG3	371
C14orf180	CCDC85C	A6NKD9	349
C14orf180	LHX4	Q969G2	346
C14orf180	NTNG1	Q9Y2I2	343
C14orf180	ABCA12	Q86UK0	324
C14orf180	ELMOD3	Q96FG2	324

IntAct

137 interactions, top by confidence:

A	B	Type	Score
CD74	NRAC	psi-mi:“MI:0915”(physical association)	0.600
NRAC	AQP6	psi-mi:“MI:0915”(physical association)	0.560
NRAC	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
NRAC	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
NRAC	NCR3LG1	psi-mi:“MI:0915”(physical association)	0.560
NRAC	TEX29	psi-mi:“MI:0915”(physical association)	0.560
NRAC	TMEM167B	psi-mi:“MI:0915”(physical association)	0.560
NRAC	HAS3	psi-mi:“MI:0915”(physical association)	0.560
NRAC	AQP3	psi-mi:“MI:0915”(physical association)	0.560
NRAC	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
NRAC	CLEC7A	psi-mi:“MI:0915”(physical association)	0.560
NRAC	MFF	psi-mi:“MI:0915”(physical association)	0.560
NRAC	ASZ1	psi-mi:“MI:0915”(physical association)	0.560
NRAC	TMEM106C	psi-mi:“MI:0915”(physical association)	0.560
BIK	NRAC	psi-mi:“MI:0915”(physical association)	0.560
	NRAC	psi-mi:“MI:0915”(physical association)	0.560
PPP1CB	NRAC	psi-mi:“MI:0915”(physical association)	0.560
NRAC	GPRC5D	psi-mi:“MI:0915”(physical association)	0.560
NRAC	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
NRAC	REEP4	psi-mi:“MI:0915”(physical association)	0.560
CPLX4	NRAC	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (48): C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid), C14orf180 (Two-hybrid)

ESM2 similar proteins: A0A140LIA7, A0A1B0GTL2, A2VDX9, A3FFS8, A6NCS6, A8MVW0, K9M1U5, O43541, P01588, P03971, P03972, P07321, P07865, P0C7N4, P0DPE3, P13725, P27106, P29676, P33707, P33708, P33709, P48617, P49000, P49157, P53346, P79295, Q02011, Q0Z956, Q16619, Q1HCM0, Q28513, Q29RM6, Q5BLP8, Q5S1V9, Q60753, Q63086, Q65Z15, Q6H8S9, Q6H8T0, Q6H8T1

Diamond homologs: Q29RM6, Q8BNX7, Q8N912

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

860 predictions. Top by Δscore:

Variant	Effect	Δscore
14:104586538:GAGG:G	donor_gain	1.0000
14:104586540:GG:G	donor_gain	1.0000
14:104586541:GG:G	donor_gain	1.0000
14:104587879:G:GG	donor_gain	1.0000
14:104588269:CGCA:C	acceptor_loss	1.0000
14:104588271:CA:C	acceptor_loss	1.0000
14:104588272:A:AC	acceptor_loss	1.0000
14:104588272:A:AG	acceptor_gain	1.0000
14:104588273:G:GG	acceptor_gain	1.0000
14:104588273:GA:G	acceptor_gain	1.0000
14:104588273:GAC:G	acceptor_gain	1.0000
14:104588273:GACA:G	acceptor_gain	1.0000
14:104588307:GGG:G	donor_gain	1.0000
14:104588307:GGGGT:G	donor_loss	1.0000
14:104588308:GG:G	donor_gain	1.0000
14:104588308:GGG:G	donor_gain	1.0000
14:104588308:GGGTG:G	donor_loss	1.0000
14:104588309:GG:G	donor_gain	1.0000
14:104588309:GGT:G	donor_loss	1.0000
14:104580001:CAGG:C	donor_loss	0.9900
14:104580002:AGG:A	donor_loss	0.9900
14:104580004:G:GA	donor_loss	0.9900
14:104580005:T:G	donor_loss	0.9900
14:104586410:CTTA:C	acceptor_loss	0.9900
14:104586412:TAGG:T	acceptor_loss	0.9900
14:104586413:A:G	acceptor_loss	0.9900
14:104586414:G:GT	acceptor_loss	0.9900
14:104586503:G:GT	donor_gain	0.9900
14:104586540:GGGT:G	donor_loss	0.9900
14:104586541:GGTA:G	donor_loss	0.9900

AlphaMissense

994 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:104587848:T:C	F71L	0.979
14:104587850:C:A	F71L	0.979
14:104587850:C:G	F71L	0.979
14:104587777:T:C	I47T	0.948
14:104587849:T:G	F71C	0.930
14:104587849:T:C	F71S	0.924
14:104587848:T:G	F71V	0.849
14:104587777:T:A	I47N	0.840
14:104587777:T:G	I47S	0.830
14:104587848:T:A	F71I	0.811
14:104587784:A:C	K49N	0.806
14:104587784:A:T	K49N	0.806
14:104588655:G:C	G119R	0.792
14:104588277:T:A	I82N	0.783
14:104587774:C:T	S46F	0.760
14:104588631:T:C	C111R	0.759
14:104588635:T:A	V112D	0.752
14:104588625:T:C	C109R	0.749
14:104587838:G:C	R67S	0.740
14:104587838:G:T	R67S	0.740
14:104588641:T:A	L114H	0.713
14:104587783:A:T	K49I	0.712
14:104588277:T:G	I82S	0.710
14:104587855:A:T	E73V	0.688
14:104587837:G:T	R67M	0.687
14:104587774:C:A	S46Y	0.681
14:104587843:T:C	V69A	0.681
14:104587842:G:C	V69L	0.678
14:104587842:G:T	V69L	0.678
14:104587842:G:A	V69M	0.677

dbSNP variants (sampled 300 via entrez): RS1000182284 (14:104578699 G>A,C), RS1000817289 (14:104584771 C>A,T), RS1001037569 (14:104584950 A>C,G), RS1001182520 (14:104579757 G>A), RS1001235503 (14:104586948 C>T), RS1001236366 (14:104579969 T>G), RS1001273182 (14:104590145 T>C), RS1001386206 (14:104589578 G>A), RS1001391812 (14:104580826 TG>T,TGG), RS1001994379 (14:104588935 C>T), RS1002169519 (14:104588936 G>A), RS1003034259 (14:104582155 G>A), RS1003048137 (14:104587513 G>A), RS1003068816 (14:104579816 C>T), RS1003245914 (14:104584384 C>T)

Disease associations

OMIM: gene MIM:619392 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007843_23	Rheumatoid arthritis	2.000000e-08
GCST008103_137	Bipolar disorder	2.000000e-06
GCST008115_19	Bipolar I disorder	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009963	bipolar I disorder

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Estradiol	increases expression, affects binding	1
Plant Extracts	affects cotreatment, decreases expression	1
Triclosan	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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