ZNF462 - zinc finger protein 462 Gene

Homo sapiens

Also known as WSKA; ZFPIP; Zfp462

Gene ID: 58499 | Gene type: protein coding

About ZNF462

Cytogenetic location: 9q31.2 Genomic coordinates (GRCh38): 9:106,860,158-107,013,634 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.5), thyroid (RPKM 2.5) and 23 other tissues.

Summary

The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

ZNF462 Products(2)

mRNA	Protein	Name
NM_001347997.2	NP_001334926.1	zinc finger protein 462 isoform 2
NM_021224.6	NP_067047.4	zinc finger protein 462 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27705803	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

ZNF462 Protein Structure

zf-H2C2_5

0
400
800
1200
1600
2000
2506 a.a.

Protein Preferred Names

Protein Names

zinc finger protein 462

zinc finger PBX1-interacting protein

ZNF462 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Validated Y2H	32296183
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Y2H Prey Pooling	32296183
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Y2H Array	32296183
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	TAP	27705803
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Weiss-Kruszka Syndrome

WSKA	Znf462 Disorder

Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16144	ZNF462 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ZNF462	MGD	MGI:107690
Canis familiaris	ZNF462	VGNC	VGNC:48734
Felis catus	ZNF462	VGNC	VGNC:67309
Macaca mulatta	ZNF462	VGNC	VGNC:79331
Bos taurus	ZNF462	VGNC	VGNC:37280
Rattus norvegicus	ZNF462	RGD	RGD:1562123

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