TMCC2 (transmembrane and coiled-coil domain family 2)

Gene

• Entrez ID: 9911
• Gene name: Transmembrane and coiled-coil domain family 2
• Gene symbol: TMCC2
• Synonyms (NCBI Gene): HUCEP11
• Chromosome: 1
• Chromosome location: 1q32.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018734	hsa-miR-335-5p	Microarray	18185580
MIRT030027	hsa-miR-26b-5p	Microarray	19088304
MIRT646557	hsa-miR-6783-5p	HITS-CLIP	23824327
MIRT646556	hsa-miR-3183	HITS-CLIP	23824327
MIRT646555	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT646554	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT646553	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT646552	hsa-miR-145-3p	HITS-CLIP	23824327
MIRT646551	hsa-miR-4450	HITS-CLIP	23824327
MIRT646550	hsa-miR-6824-5p	HITS-CLIP	23824327
MIRT646549	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT646548	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT646546	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT646557	hsa-miR-6783-5p	HITS-CLIP	23824327
MIRT646556	hsa-miR-3183	HITS-CLIP	23824327
MIRT646555	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT646554	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT646553	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT646552	hsa-miR-145-3p	HITS-CLIP	23824327
MIRT646551	hsa-miR-4450	HITS-CLIP	23824327
MIRT646550	hsa-miR-6824-5p	HITS-CLIP	23824327
MIRT646549	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT646548	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT646546	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT1428322	hsa-miR-1321	CLIP-seq
MIRT1428323	hsa-miR-139-5p	CLIP-seq
MIRT1428324	hsa-miR-342-5p	CLIP-seq
MIRT1428325	hsa-miR-3654	CLIP-seq
MIRT1428326	hsa-miR-3926	CLIP-seq
MIRT1428327	hsa-miR-4270	CLIP-seq
MIRT1428328	hsa-miR-4441	CLIP-seq
MIRT1428329	hsa-miR-4638-3p	CLIP-seq
MIRT1428330	hsa-miR-4651	CLIP-seq
MIRT1428331	hsa-miR-4664-5p	CLIP-seq
MIRT1428332	hsa-miR-4739	CLIP-seq
MIRT1428333	hsa-miR-4756-5p	CLIP-seq
MIRT1428334	hsa-miR-4779	CLIP-seq
MIRT1428335	hsa-miR-491-5p	CLIP-seq
MIRT1428336	hsa-miR-608	CLIP-seq
MIRT1428337	hsa-miR-765	CLIP-seq
MIRT1428338	hsa-miR-1	CLIP-seq
MIRT1428339	hsa-miR-1207-3p	CLIP-seq
MIRT1428340	hsa-miR-1291	CLIP-seq
MIRT1428341	hsa-miR-206	CLIP-seq
MIRT1428342	hsa-miR-3202	CLIP-seq
MIRT1428343	hsa-miR-3673	CLIP-seq
MIRT1428344	hsa-miR-4435	CLIP-seq
MIRT1428345	hsa-miR-4488	CLIP-seq
MIRT1428346	hsa-miR-4533	CLIP-seq
MIRT1428347	hsa-miR-4640-5p	CLIP-seq
MIRT1428348	hsa-miR-4694-3p	CLIP-seq
MIRT1428349	hsa-miR-4697-5p	CLIP-seq
MIRT1428350	hsa-miR-4726-5p	CLIP-seq
MIRT1428351	hsa-miR-4731-5p	CLIP-seq
MIRT1428352	hsa-miR-522	CLIP-seq
MIRT1428353	hsa-miR-595	CLIP-seq
MIRT1428354	hsa-miR-613	CLIP-seq
MIRT1428355	hsa-miR-637	CLIP-seq
MIRT1428356	hsa-miR-644	CLIP-seq
MIRT1428357	hsa-miR-663b	CLIP-seq
MIRT1428339	hsa-miR-1207-3p	CLIP-seq
MIRT1428325	hsa-miR-3654	CLIP-seq
MIRT1428326	hsa-miR-3926	CLIP-seq
MIRT2461594	hsa-miR-4459	CLIP-seq
MIRT1428329	hsa-miR-4638-3p	CLIP-seq
MIRT2461595	hsa-miR-4695-5p	CLIP-seq
MIRT2461596	hsa-miR-4722-5p	CLIP-seq
MIRT2643467	hsa-miR-3919	CLIP-seq
MIRT2643467	hsa-miR-3919	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21593558, 24454821
GO:0005783	Component	Endoplasmic reticulum	IDA	21593558
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0042982	Process	Amyloid precursor protein metabolic process	IBA
GO:0042982	Process	Amyloid precursor protein metabolic process	IDA	21593558

Other IDs

• MIM: 619429
• HGNC: 24239
• e!Ensembl: ENSG00000133069

Protein

• UniProt ID: O75069
• Protein name: Transmembrane and coiled-coil domains protein 2 (Cerebral protein 11)
• Protein function: May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10267	Tmemb_cc2	286 → 697	Predicted transmembrane and coiled-coil 2 protein	Coiled-coil

• Sequence:

  MKRCRSDELQQQQGEEDGAGLEDAASHLPGADLRPGETTGANSAGGPTSDAGAAAAPNPG
  PRSKPPDLKKIQQLSEGSMFGHGLKHLFHSRRRSREREHQTSQDSQQHQQQQGMSDHDSP
  DEKERSPEMHRVSYAMSLHDLPARPTAFNRVLQQIRSRPSIKRGASLHSSSGGGSSGSSS
  RRTKSSSLEPQRGSPHLLRKAPQDSSLAAILHQHQCRPRSSSTTDTALLLADGSNVYLLA
  EEAEGIGDKVDKGDLVALSLPAGHGDTDGPISLDVPDGAPDPQRTKAAIDHLHQKILKIT
  EQIKIEQEARDDNVAEYLKLANNADKQQVSRIKQVFEKKNQKSAQTIAQLHKKLEHYRRR
  LKEIEQNGPSRQPKDVLRDMQQGLKDVGANVRAGISGFGGGVVEGVKGSLSGLSQATHTA
  VVSKPREFASLIRNKFGSADNIAHLKDPLEDGPPEEAARALSGSATLVSSPKYGSDDECS
  SASASSAGAGSNSGAGPGGALGSPKSNALYGAPGNLDALLEELREIKEGQSHLEDSMEDL
  KTQLQRDYTYMTQCLQEERYRYERLEEQLNDLTELHQNEMTNLKQELASMEEKVAYQSYE
  RARDIQEAVESCLTRVTKLELQQQQQQVVQLEGVENANARALLGKFINVILALMAVLLVF
  VSTIANFITPLMKTRLRITSTTLLVLVLFLLWKHWDSLTYLLEHVLLPS

• Sequence length: 709

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations