1. Gene
  2. ZCCHC12 - zinc finger CCHC-type containing 12 Gene

ZCCHC12 - zinc finger CCHC-type containing 12 Gene

Homo sapiens

Also known as SIZN; SIZN1; PNMA7A

Gene ID: 170261 | Gene type: protein coding

About ZCCHC12

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:118,823,824-118,826,968 (from NCBI)

This gene has 1 transcript (splice variant), 591 orthologues and 13 paralogues. Biased expression in endometrium (RPKM 50.3), brain (RPKM 9.1) and 1 other tissue.

Summary

This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

ZCCHC12 Products(2)

mRNA Protein Name
NM_001312891.2 NP_001299820.1 zinc finger CCHC domain-containing protein 12
NM_173798.4 NP_776159.1 zinc finger CCHC domain-containing protein 12
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZCCHC12 Protein Structure

PNMA

PNMA: PNMA (15 - 213)

  • 0
  • 100
  • 200
  • 300
  • 402 a.a.
Protein Preferred Names Protein Names

zinc finger CCHC domain-containing protein 12

paraneoplastic Ma antigen family member 7A

ZCCHC12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ZCCHC12 Q6PEW1 MAGEA11 Homo sapiens P43364-2 25416956
Intra
ZCCHC12 Q6PEW1 MAGEA11 Homo sapiens P43364-2 25416956
Intra
ZCCHC12 Q6PEW1 UBE2I Homo sapiens Q7KZS0 32296183
Intra
ZCCHC12 Q6PEW1 UBE2I Homo sapiens Q7KZS0 32296183
Intra
ZCCHC12 Q6PEW1 UBE2I Homo sapiens Q7KZS0 32296183
Intra
ZCCHC12 Q6PEW1 MAGEA11 Homo sapiens G5E962 25910212
Intra
ZCCHC12 Q6PEW1 MAGEA11 Homo sapiens G5E962 25910212
Intra
ZCCHC12 Q6PEW1 MAGEA11 Homo sapiens G5E962 25910212
Intra
ZCCHC12 Q6PEW1 PGK2 Homo sapiens P07205 28514442
Intra
ZCCHC12 Q6PEW1 PGK2 Homo sapiens P07205 33961781
Intra
ZCCHC12 Q6PEW1 ABHD5 Homo sapiens Q8WTS1 32296183
Intra
ZCCHC12 Q6PEW1 ABHD5 Homo sapiens Q8WTS1 32296183
Intra
ZCCHC12 Q6PEW1 ABHD5 Homo sapiens Q8WTS1 32296183
Intra
ZCCHC12 Q6PEW1 CD207 Homo sapiens Q9UJ71 32296183
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 25910212
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 32296183
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 25416956
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 25910212
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 25910212
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 32296183
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 25416956
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 32296183
Intra
ZCCHC12 Q6PEW1 PNMA1 Homo sapiens Q8ND90 25416956
Intra
ZCCHC12 Q6PEW1 MCRS1 Homo sapiens Q96EZ8 32296183
Intra
ZCCHC12 Q6PEW1 KPNA3 Homo sapiens O00505 32296183
Intra
ZCCHC12 Q6PEW1 KPNA3 Homo sapiens O00505 32296183
Intra
ZCCHC12 Q6PEW1 TFCP2 Homo sapiens Q12800 25910212
Intra
ZCCHC12 Q6PEW1 TFCP2 Homo sapiens Q12800 25416956
Intra
ZCCHC12 Q6PEW1 TFCP2 Homo sapiens Q12800 25910212
Intra
ZCCHC12 Q6PEW1 TFCP2 Homo sapiens Q12800 25910212
Intra
ZCCHC12 Q6PEW1 TMEM43 Homo sapiens Q9BTV4 32296183
Intra
ZCCHC12 Q6PEW1 TADA2A Homo sapiens O75478 32296183
Intra
ZCCHC12 Q6PEW1 TADA2A Homo sapiens O75478 32296183
Intra
ZCCHC12 Q6PEW1 FATE1 Homo sapiens Q969F0 32296183
Intra
ZCCHC12 Q6PEW1 SUMO1 Homo sapiens P63165 25910212
Intra
ZCCHC12 Q6PEW1 SUMO1 Homo sapiens P63165 25910212
Intra
ZCCHC12 Q6PEW1 SUMO1 Homo sapiens P63165 25416956
Intra
ZCCHC12 Q6PEW1 SUMO1 Homo sapiens P63165 25416956
Intra
ZCCHC12 Q6PEW1 SUMO1 Homo sapiens P63165 25910212
Intra
ZCCHC12 Q6PEW1 RUSF1 Homo sapiens Q96GQ5 32296183
Intra
ZCCHC12 Q6PEW1 TMEM79 Homo sapiens Q9BSE2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Potocki-Lupski Syndrome

PTLS

Chromosome 17p11.2 Duplication Syndrome

17p11.2 Microduplication Syndrome

Duplication 17p11.2 Syndrome

Trisomy 17p11.2

Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

17p11.2 Duplication Syndrome

Dup(17)(P11.2p11.2)

Pls

Chromosome 17, Trisomy 17p11 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ZCCHC12 VGNC VGNC:79660
Mus musculus ZCCHC12 MGD MGI:1919943
Rattus norvegicus ZCCHC12 RGD RGD:1359439
Bos taurus ZCCHC12 VGNC VGNC:50125