EPPIN - epididymal peptidase inhibitor Gene

Also Known as CT71; CT72; WAP7; WFDC7; SPINLW1; dJ461P17.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57119

About EPPIN

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,540,626-45,547,401 (from NCBI)

This gene has 4 transcripts (splice variants), 572 orthologues and 13 paralogues. Restricted expression toward testis (RPKM 44.7).

Summary

This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

EPPIN Products (2)

mRNA	Protein	Name
NM_001302861.2	NP_001289790.1	eppin isoform 2 precursor
NM_020398.4	NP_065131.1	eppin isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15590901	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in defense response to bacterium	IDA IDA: Inferred from direct assay	18331357	GOA
involved in negative regulation of calcium ion import	IMP IMP: Inferred from mutant phenotype	22075473	GOA
involved in negative regulation of flagellated sperm motility	IMP IMP: Inferred from mutant phenotype	22075473	GOA
involved in negative regulation of peptidase activity	IDA IDA: Inferred from direct assay	18331357	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	17567961	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	17567961	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	17567961	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

EPPIN Protein Structure

WAP

Kunitz_BPTI

0
100
133 a.a.

Protein Preferred Names	Protein Names
eppin	WAP four-disulfide core domain protein 7

Related Diseases

Diseases	Alias
Infertility
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Prostatic Cyst	Cyst Of Prostate
Atrophy Of Prostate
Orchitis	Inflammation Of Testis Orchititis Mumps Orchitis
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Fertile Eunuch Syndrome Pasqualini Syndrome HH23 46,Xy Disorder Of Sex Development Due To Lhb Deficiency 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Subunit Beta Deficiency 46,Xy Dsd Due To Lhb Deficiency 46,Xy Dsd Due To Luteinizing Hormone Subunit Beta Deficiency Leydig Cell Hypoplasia Due To Lhb Deficiency Leydig Cell Hypoplasia Due To Luteinizing Hormone Subunit Beta Deficiency Eunuchoidism With Spermatogenesis, Normal Fsh And Low Or Normal Interstitial Cell-Stimulating Hormone Hypogonadism, Hypogonadotropic, Type 23, With/Without Anosmia
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 4 CDLS4 Cornelia De Lange Syndrome, Type 4
Epididymis Disease
Spastic Paraplegia 14, Autosomal Recessive	SPG14 Hereditary Spastic Paraplegia 14 Autosomal Recessive Spastic Paraplegia Type 14 Autosomal Recessive Spastic Paraplegia 14 Spastic Paraplegia 14
Pelvic Varices	Varix Of Pelvis Pelvic Varicose Vein
Hypoglycemic Coma
Bladder Diverticulum	Diverticulum Of Bladder Diverticulum - Bladder Bladder Diverticula Vesical Diverticulum Bladder Sacculation
Spermatogenic Failure, X-Linked, 1	Sertoli Cell-Only Syndrome Germinal Cell Aplasia Del Castillo Syndrome SPGFX1 X-Linked Spermatogenic Failure 1 Congenital Absence Of Germinal Epithelium Of Testes
Spermatogenic Failure 9	Male Infertility Due To Globozoospermia SPGF9 Male Infertility Due To Round-Headed Spermatozoa Globozoospermia, Complete Globozoospermia, Total Globozoospermia Globozoospermia Syndrome Round-Headed Sperm Syndrome Globozoospermia Complete Globozoospermia Total
Latex Allergy
Prostatic Hypertrophy	Benign Prostatic Hypertrophy Prostatic Hyperplasia
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	Atr-X Syndrome Atr, Nondeletion Type Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Atrx Syndrome Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome Xlmr Hypotonic Face Syndrome Alpha Thalassemia X-Linked Intellectual Disability Syndrome Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia/Mental Retardation, X-Linked Alpha-Thalassemia X-Linked Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type X-Linked Alpha-Thalassemia/Mental Retardation Syndrome Xlmr-Hypotonic Face Syndrome Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
Phosphoglycerate Kinase 1 Deficiency	Pgk1 Deficiency Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency Phosphoglycerate Kinase Deficiency Pgk Deficiency Glycogenosis Due To Phosphoglycerate Kinase 1 Deficiency Gsd Due To Phosphoglycerate Kinase 1 Deficiency Deficiency Of Phosphoglycerate Kinase PGK1D Deficiency, Phosphoglycerate Kinase 1
Leydig Cell Hypoplasia	46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency 46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Disorder Of Sex Development Due To Lh Defects Lh Resistance Due To Lh Receptor Deactivation Leydig Cell Agenesis Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency Lch Hypoplasia, Leydig Cell
Luteoma	Leuteoma Of Pregnancy Luteoma Of Pregnancy
Adrenal Rest Tumor	Adrenal Rest Neoplasm
Male Reproductive System Disease	Genital Diseases, Male Disorder Of Male Reproductive System
Testicular Disease	Testicular Dysfunction Testicular Diseases Disorder Of Testis Testis Disorder Testicular Disorders
Ovarian Sex-Cord Stromal Tumor	Ovarian Sex Cord Tumor With Annular Tubules Ovarian Sex Cord-Stromal Tumor Stromal Tumor Of Ovary
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Testicular Torsion	Spermatic Cord Torsion Torsion Of Testis Torsion Of Testicular Cord Torsion Of Testicle Torsion Of Spermatic Cord Torsion Of Spermatic Cord Nos
Oligospermia
Ovarian Benign Neoplasm	Benign Ovarian Neoplasm
Reproductive System Disease	Abnormality Of The Genital System Genital System Disease Reproductive System Disorder
Adrenal Cortex Disease	Adrenal Cortex Diseases
Alveolar Echinococcosis	Echinococcus Multilocularis Infection Echinococcosis Alveolococcosis Multilocular Hydatid Small Fox Tapeworm
Embryonal Testis Carcinoma	Testicular Embryonal Carcinoma Embryonal Carcinoma Of Testis Embryonal Carcinoma Of The Testis
Androgen Insensitivity, Partial	Partial Androgen Insensitivity Syndrome Reifenstein Syndrome PAIS Androgen Insensitivity, Partial, With Or Without Breast Cancer Familial Incomplete Male Pseudohermaphroditism, Type 1 Androgen Insensitivity Syndrome, Partial Androgen Resistance Syndrome, Partial Reifenstein Syndrome, Partial Partial Androgen Resistance Syndrome Androgen Insensitivity Partial With Or Without Breast Cancer Androgen Insensitivity Syndrome Partial Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
Signet Ring Cell Adenocarcinoma	Signet Ring Cell Carcinoma Carcinoma, Signet Ring Cell Signet Ring Carcinoma Carcinoma Signet Ring Cell
Uterine Benign Neoplasm
Reproductive Organ Benign Neoplasm
Adrenal Hypoplasia, Congenital	X-Linked Adrenal Hypoplasia Congenita Congenital Adrenal Hypoplasia AHC Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism Adrenal Hypoplasia Congenita X-Linked Ahc Ahch Ahx Ahc With Hhg Cytomegalic Adrenocortical Hypoplasia Ahc With Isolated Gonadotropin Deficiency X-Linked Congenital Adrenal Hypoplasia Congenital Adrenal Hypoplasia, X-Linked Addison Disease, X-Linked Primary Adrenal Hypoplasia Adrenal Hypoplasia Congenital, X-Linked X-Linked Addison Disease X-Linked Adrenal Hypoplasia Congenital Congenital Hypoplasia Of Adrenal Gland Congenital Adrenal Gland Hypoplasia Congenital Small Adrenal Gland Adrenal Hypoplasia Cah - [Congenital Adrenal Hypoplasia]
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Aromatase Excess Syndrome	AEXS Increased Aromatase Activity Familial Hyperestrogenism Hereditary Prepubertal Gynecomastia Aromatase Activity, Increased Familial Gynecomastia Due To Increased Aromatase Activity Hereditary Gynecomastia Gynecomastia, Familial Familial Gynecomastia
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Adrenal Adenoma	Adenoma Of The Adrenal Gland Adrenal Incidentaloma Adrenal Cortical Adenoma Adrenocortical Adenoma
Hydrocele	Testicular Hydrocele
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Androgen Insensitivity Syndrome	Androgen Resistance Syndrome AIS Testicular Feminization Syndrome Androgen Receptor Deficiency Dhtr Deficiency Dihydrotestosterone Receptor Deficiency Ar Deficiency Testicular Feminization Tfm Androgen Insensitivity Androgen-Insensitivity Syndrome Goldberg-Maxwell Syndrome Complete Androgen Insensitivity Syndrome Cais Feminisation - Testicular Goldberg - Maxwell Syndrome Androgen Insensitivity Syndrome, Complete Morris Syndrome Ary AR Insensitivity Syndrome, Androgen Androgen Insensitivity Nos
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-171129	EP055		/	Unkown
HY-RS04449	EPPIN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EPPIN	RGD	RGD:1597722
Mus musculus	EPPIN	MGD	MGI:1922776